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Updated Obs and Gynae


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Updated Obs and Gynae

  1. 1. QUIZ
  2. 2. • Define Menorrhagia – Subjective patient-defined definition: periods unacceptably heavy and impairing her quality of life. – Research definition: total menstrual blood flow exceeds>80ml; not practical clinically • What are the pathological causes of abnormal menstrual bleeding? – Fibroids, PID, Endometriosis, Adenomyosis, endometrial hyperplersia, endometrial polyp, endometrial cancer, Cervical polyp/cancer • Which of these causes are often associated with pain (dysmenorrhoea}? – Endometriosis, Adenomyosis, PID • Which of the causes are associated with intermenstrual and/or post- coital bleeding? – Endometrial polyp/cancer, Cervical polyp/cancer, Excessive bleeding in the absence of an organic lesion • Define dysfunctional uterine bleeding (DUB). – Abnormal menstrual bleeding (excessive or unscheduled) in the absence of underlying organic pathology. • In relation to cycle regularity, what are the two types of DUB? – Ovulatory & Anovulatory
  3. 3. • What investigations may be performed for menstrual disorders? – FBC; pelvic ultrasound; hysteroscopy; endometrial biopsy - pipelle/curettage; cervical smear; FSH/LH/E2/test/PRL if oligo-amenorrhoea or perimenopausal. • What hierarchy of medical treatments are available for menstrual disorders? Mefenamic acid (NSAID) Tranexamic acid (antifibrinolytic) Combined Pill (COC) - Inhibit ovulation Luteal phase cyclical oral progestogen • What hierarchy of surgical treatments are available for menstrual disorders? Remove polyp or submucous fibroid by hysteroscope Myomectomy (laparoscopic or open abdominal) Endometrial ablation (second-generation) hysterectomy (subtotal or total; vaginal; abdominal or Laparoscopically-assisted vaginal hysterectomy)
  4. 4. True or False questions regarding Obstetric Hx & Exam 1. A woman at 38 weeks into her first pregnancy is para 1+0. F - The answer is para 0+0. Parity does not become 1 until after delivery. 2. A woman who has had a previous still birth at 32 weeks and a previous live birth at 40 weeks is para 2+0. T - The first figure includes deliveries beyond 24 weeks not live births 3. The expected date of delivery is 40 weeks after day of ovulation. F - The EDD is 38 weeks after ovulation or 40 weeks after LMP if cycle 28 days 4. Women ovulate reliably 14 days after stopping the OCP. F - Women who conceive after a pill period should have a scan to confirm gestation 5. In the absence of pregnancy menstruation occurs about 14 days after ovulation. T - The luteal phase is usually 14 days. The follicular phase is more variable 6. Ovulation occurs in the middle of the cycle irrespective of cycle length. F - Ovulation occurs 1.4 days before next menses 7. A birthweight of 2100g at 39 weeks is within the normal range. . F - A mature fetus should weigh more than 2500g 8. At 19 weeks gestation is best estimated by crown rump length on ultrasound. F - At 19 weeks the biparietal diameter is used. The crown rump length is used until 12 weeks 9. An elevated AFP is always associated with a fetal abnormality. F - An elevated AFP can be associated with wrong gestation or twins for example 10. Down syndrome can be diagnosed on the basis of a maternal blood sample. F - Down syndrome can only be diagnosed by amniocentesis, chorionic villus sampling or fetal blood sampling. A maternal estimate of AFP and HCG can give a personal risk of having a baby with Down. 11. Amniocentesis carries a miscarriage rate of approximately 1 %. T - This is the reported risk 12. A beta hCG pregnancy test becomes positive before a missed period. T
  5. 5. 13. In a patient with painless bleeding at 32 weeks the most likely cause is a placental abruption. F - A more likely cause is placenta praevia. Abruption would be associated with pain 14. Rhesus negative patients with bleeding before 24 weeks of pregnancy do not require an injection of anti-D. F - All Rhesus negative women with antepartum bleeding require anti D to prevent isoimmunisation 15. Pre eclampsia is associated with small for gestational age babies. T - Pre eclampsia is associated with SGA babies 16. Patients with pre eclampsia often need delivered primarily in the interest of the fetus. F - Delivery is usually in maternal interest to prevent complications of pre eclampsia 17. Regular antenatal checks of blood pressure will help identify pre eclamptic mothers. . T - Pre eclampsia is a condition of signs. Symptoms occur late in the progress of the disease 18. Diabetic mothers are more likely to have large for dates babies. T - The incidence of macrosomia can be reduced with good control of blood sugars 19. In a patient with a positive pregnancy test and an empty uterus on ultrasound scan, ectopic pregnancy must be considered a possible diagnosis. T - Ectopic should be excluded with laparoscopy 20. Oedema in pregnancy is best tested for by pressing over the medial malleolus. F - Best area is pre tibial 21. A linea nigra is suggestive of pregnancy. T - This is a sign of pregnancy 22. The blood pressure should be taken in pregnancy with the mother supine. F - In this position supine hypotension can occur. She should be sitting or semi prone 23. The uterine fundus reaches the umbilicus at 28 weeks of pregnancy. F - Reaches umbilicus at 22 weeks 24. The uterine fundus is first palpable abdominally at about 12 weeks. T - Palpable at about 12 weeks 25. An example of transverse lie is when the baby is in the right occipito posterior position. F - ROP refers to the position of the fetus (see definitions)
  6. 6. 26. The cephalic pole is more ballotable than the breech. T - This is one of the identifying features of the cephalic pole 27. If one fifth of the fetal head is palpable the head is engaged. T - This means that the widest diameter is through the pelvic brim 28. The fetal heart is most clearly heard over the fetal abdomen. . F - Listen over anterior shoulder 29. The supine hypotension syndrome is best treated by raising the patient’s legs. F - Turn to left side 30. A diabetic patient may show signs of polyhydramnios on examiantion T - This is a complication of poorly controlled diabetes in pregnancy.
  7. 7. 1. What symptoms/signs may herald the onset of labour? – 1) Regular uterine contractions – 2) Rupture of membranes – 3) Show 2. How is the diagnosis of labour confirmed? – 1) Cervical dilation – 2) Regular uterine contractions and/or descent of presenting part 3. Define the three stages of labour? – Stage 1 - Onset of regular uterine contractions until full dilation of cervix – Stage 2 - Full dilatation of cervix until delivery of the baby – Stage 3 - Delivery of baby until delivery of placenta 4. How is the progress of labour assessed? – 1) Cervical dilation and or cervical effacement – 2) Descent of presenting part 5. What aspects of maternal care need to be addressed in labour? – 1) Blood pressure – 2) Signs of infection - pulse/temperature – 3) Pain relief – 4) Fluid balance – 5) Reference to birth plan
  8. 8. 6. How is fetal well-being assessed in labour? – 1) Fetal heart rate – 2) Colour of liquor – 3) Fetal scalp pH 7. What forms of pain relief can be used in labour? – 1) Entonox – 2) Opiates – 3) Epidural – 4) Tens 8. What are the indications for an episiotomy? – 1) Imminent tear – 2) Fetal distress – 3) Forceps – 4) Preterm – 5) Breech – 6) Previous third degree tear
  9. 9. 9. What steps are taken to manage the normal third stage of labour? – 1) Syntometrine with anterior shoulder – 2) Signs of placental separation – 3) Examination of placenta for completeness – 4) Assessment of blood loss 10. How is the condition of the baby assessed at birth? Apgar score 2 1 0 - Colour Pink Blue White - Tone Active Movements Floppy - Heart rate > 100 20-100 <20 - Breathing Crying Irregular Gasps - Reflexes Cough Grimace None Total Score Good = 8-10 Moderate = 5-7 Poor = 0-4 11. What special tests are performed in a Rhesus negative mother and baby at delivery? – 1) Maternal - Kleihaur – 2) Fetal - Blood group/Rh, Direct Coombs
  10. 10. Answer True or False 1. The first contractions of labour are called Braxton Hicks contractions. F - Braxton Hicks are irregular contractions before labour 2. The membranes always rupture during the first stage of labour. F - Membranes may rupture before or during labour 3. The second stage of labour commences when the cervix is fully dilated. T - This is the definition of second stage 4. The third stage of labour lasts for 15 minutes after the delivery of the baby. F - There is no defined duration of third stage 5. The normal fetal heart rate is in the range 110 - 160 bpm. T - This is the normal range 6. Passage of meconium during labour is a sign of fetal wellbeing. F - Meconium is a sign of fetal distress 7. Effacement describes the descent of the fetal face during labour. F - Effacement describes shortening of the cervix 8. A partogram measures contraction strength. F - A partogram is the chart on which records of the observations during labour are recorded. A tocogram measures uterine contractions.
  11. 11. 9. The fetal head usually rotates from occipito lateral to occipito anterior during labour. T - This is the normal mechanism of labour 10. The fetal head is delivered by extension at the moment of crowning. T - This is the normal method of spontaneous delivery 11. The Apgar score gives a total of 5 marks. F - The Apgar gives a score out of 10 12. Syntometrine consists of a mixture of ergometrine and syntocinon. T - Syntocinon acts in 2 minutes and ergometrine in 7 minutes 13. Lengthening of the cord is a sign of placental separation. T - This is one of the signs 14. The placenta should be delivered before the uterine fundus contracts. F - Attempting to deliver the placenta from an uncontracted uterus may precipitate haemorrhage or uterine inversion
  12. 12. 1. Define stress incontinence. – Involuntary loss of urine in the absence of detrusor contraction e.g. on exercise, coughing 2. Define urge incontinence. – Involuntary loss of urine associated with detrusor contraction 3. With which urinary symptoms may a patient with stress incontinence present? – Leakage of urine on coughing, exercise; Good volumes; No frequency; No urgency; No nocturia 4. With which urinary symptoms may a patient with urge incontinence present? – Sudden desire to void and leaking urine without control; Frequency; Small volumes; Nocturia 5. What additional symptoms may be present in a patient with stress incontinence? – Symptoms of prolapse 6. What aetiological factors are associated with stress incontinence? – Smoking — chronic cough – Obesity – Post menopause – Multiparity 7. What examination / investigation should be performed on a patient presenting with incontinence of urine? – Abdominal/pelvic exam; – MSSU – Urodynamics – Voiding chart
  13. 13. 8. What conservative treatment measures are available for stress incontinence? – Weight loss – Stop smoking – Pelvic floor exercises/vaginal cones 9. What surgical procedures are available for stress incontinence? – Anterior repair – Colposuspension – Sling 10. What treatment measures are available for urge incontinence? – Treat any underlying infection – Anticholinergic drugs • Oxybutynin, tolterodine, trospium chloride, propiverine, and solifenacin. – Bladder training 11. Which other conditions can give rise to incontinence of urine? – Fistulae – Neurological abnormalities e.g. MS
  14. 14. True or False? 1. True stress incontinence of urine is caused by detrusor instability. – F - True Stress incontinence involves bladder neck weakness. Detrusor instability is associated with urge incontinence 2. The uterus can never be palpated abdominally except during pregnancy. – F - A fibroid uterus can be palpated 3. Low transverse scars for gynaecological surgery are always made above the hairline. – F - Below gives best access and cosmetic results 4. In a second-degree prolapse, the cervix can be seen at the vulva. – T - This is the definition 5. Bartholin’s gland is situated in the posterior third of the vulva. – T. They secrete mucus to provide vaginal lubrication and release a couple of drops of fluid just prior to orgasm
  15. 15. 1. Define the terms primary and secondary infertility. – Infertility in a patient with no previous pregnancies – Infertility in a patient who has previously been pregnant 2. What are the three main areas of investigation in a couple presenting with infertility? – Ovulation – Tubal patency – Semenal Analysis 3. For each of the above indicate features in the history which would support them as a cause for the couples infertility. – Amenorrhoea/oligoamenorrhoea – Previous PID/ruptured appendix/tubal surgery – Undescended testes/mumps orchitis 4. Indicate how each of the areas indicated in Q2 are investigated, and what results you would accept as normal for each investigation? – Mid luteal progesterone levels - > 30 nmol/l – Ultrasound - rupture of follicle >18mm – Laparoscopy and dye hydrotubation - Evidence of patency – Seminal analysis - volume/motility/sperm %normal forms 5. Name three conditions which can result in infertility which would be identified from ‘hormone profile’ of pituitary hormones. – Hyperprolactinaemia – Polycystic ovary syndrome – Premature menopause
  16. 16. 6. What methods are available to assess ovulation? – Mid luteal phase progesterone levels – Ultrasound – Temperature chart – Endometrial biopsy 7. What methods are available to induce ovulation? – Clomiphene – antioestrogen – Gonadotrophins 8. What are the complications of drugs used to induce ovulation? – Multiple pregnancy – Hyperstimulation syndrome – fluid builds up in abdominal or pleural cavity  abdo bloating & weight gain, vomiting, diarrhoea, dark urine, chest pain 9. What treatments are available to treat tubal disease? – Tubal surgery – IVF
  17. 17. 1. What reasons may lead a couple to request sterilisation? – Family complete – Not happy with other contraception, side effects, failure, tired of use 2. What is the commonest method used for female sterilisation? – Laparoscopic 3. What other methods of female sterilisation are available? – Mini laparotomy – Tubal Ligation – Hysterectomy 4. What is meant by interval sterilisation? – Sterilisation 6/52 after pregnancy i.e. post pueperium/involution 5. What factors must be discussed when counselling a patient for sterilisation? – Method – Complications – Permanent – Failure rate 6. What factors are associated with a high risk of regret following sterilisation? – Unstable marriage/change of circumstances – Psychiatric history – Young age – Decision under emotional pressure
  18. 18. 7. What must be excluded prior to performing a sterilisation? – Pregnancy 8. Why do some women notice a difference in their menstrual periods after a sterilisation procedure? – Stop OCP 9. What complications can arise during or after female sterilisation? – Anaesthetic complication – Haemorrhage – Rupture of abdominal viscus – Infection - PID, Wound – Psychological regret - loss of libido etc.
  19. 19. TRUE or FALSE 1. HRT is protective for osteoporosis and cardiovascular disease. – True 2. Primary infertility describes infertility due to a male factor – False – it is infertility when the patient ahs never been pregnant 3. Ovulation can be confirmed by measuring a day 21 progesterone level – T - A level of >30nmol/l confirms ovulation 4. Infertility affects 5% of all couples – F - It affects approx 15% of couples 5. Hysterosalpingography is a technique to confirm tubal patency – T - This is a radiological technique 6. Combined oral contraceptive pill is the commonest form of reversible contraception. – T - This is the commonest method 7. The progesterone only pill (POP) should be taken every day. – T - Advised to be taken at the same time each day 8. Contraceptive depoprovera injections are given once per month. – F - Once every 3 months 9. All current IUCDs contain copper. – F - There is a levonogestral IUCD (Mirena) 10. Contraceptive failure rates are expressed in thousand women years. – F - Hundred women years
  20. 20. 11. During laparoscopic sterilisation, the fallopian tubes are usually divided surgically. – F - Rings or clips 12. Mini laparotomy sterilisation may be performed after previous abdominal surgery. – T - May be adhesions increasing risk of laparoscopy leading to bowel damage 13. Vasectomy can be performed under local anaesthetic. – T - This is the advantage of vasectomy 14. Interval sterilisation is performed at the same time as termination. – F - Performed at an interval 6 weeks after last pregnancy 15. In the Billings method the woman records her daily temperature. – F - Cervical mucus is charted
  21. 21. Genetics - True or False? 1. Alleles are alternative forms of a gene at the same locus – True 2. When drawing a pedigree, a filled in circle is used to denote an affected female. • T - Females are designated by circles, males by squares. A diamond is used if the sex is unknown. A coloured in symbol denotes affected status. 3. The son of a woman with an autosomal dominant disorder has a ½ chance of inheriting the disorder. – True 4. Males and females are affected in equal proportions in autosomal recessive inheritance. – True 5. The healthy sib of a person with an autosomal recessive condition has a risk of ½ of being a carrier. – F - At conception a child whose parents are both carriers of an autosomal recessive condition has an equal possibility of the following genotypes – homozygous for the normal gene, heterozygous carrier, heterozygous carrier, homozygous affected. A sib of an affected person therefore has a risk of ¼ + ¼ = ½ of being a carrier at conception. However, when a sib is shown to be healthy, the risk of being an affected homozygote is removed. There remain only three possibilities – not a carrier, carrier, carrier. Therefore the risk is 2/3. 6. A carrier is a healthy person who is a heterozygote for a recessive trait. – T - Also refers to a person with a balanced chromosomal translocation 7. Artificial insemination by donor sperm will greatly reduce the risk of a couple with a baby with a rare autosomal recessive condition having another affected baby. – T - The carrier frequency for the disorder must be known. Although AI will reduce the risk, it may still be higher than expected if the autosomal recessive condition is common in the population from which the sperm donor is taken (eg the risk before carrier testing that a male in some Mediterranean populations is a carrier for thalassa emia is 1/6). 8. A male affected with an X-linked trait cannot transmit the disorder to his sons – T - A father passes on his Y chromosome to his sons. All the daughters of a male with an X-linked trait will be obligate carriers. 9. Females are never affected with X-linked recessive diseases. – F - Rarely a woman can be homozgous for an X-linked trait – eg colour blindness, when her father is affected and her mother is a carrier. If a woman has signs of an X-linked recessive disorder, then chromosome analysis should be performed to determine if she has a structural abnormality of the X chromosome, or has Turner syndrome.
  22. 22. 10. In mitochondrial inheritance, affected males never pass the disease onto their children. – T - Mitochrondria are inherited in the egg. 11. Human chromosome analysis by light microscopy can be performed only on peripheral blood cells. – F - Chromosome analysis can be performed on almost any dividing cells – commonly on skin fibroblasts, amniocytes and chorionic villus cells. 12. There are 45 autosomes in the normal human karyotype – F - There are 44: an autosome is any chromosome other than the sex (X or Y) chromosomes 13. Reciprocal translocations are rarely inherited. – F - Reciprocal translocations can occur between any chromosomes, and are usually inherited. One partner in 1/20 couples with recurrent miscarriages are said to be translocation carriers. 14. Robertsonian translocations are found in 25% cases of Down syndrome. – F - A Robertsonian translocation is the cause of Down syndrome in <5% of people with Down syndrome – when found, parents should be karyotyped to determine if the translocation is inherited, in which case other family members may be at high risk. 15. The primary purpose of genetic counselling is to reduce the incidence of genetic disease in the population. – F - Genetic counselling is an information giving process by which patients or relatives at risk of a genetic disorder are given information about the consequences of the disorder, the probability of developing or transmitting it, and the ways in which this may be prevented or ameliorated. It should be “non-directive”, allowing families to make their own choices
  23. 23. 1. What are the main causes of bleeding in early pregnancy? – Threatened miscarriage – Missed miscarriage/early fetal demise – Incomplete miscarriage – Septic miscarriage – Ectopic pregnancy – Hydatidiform mole 2. What factors may predispose to: • first trimester miscarriage? – Genetic abnormalities – Hormonal factors (PCOS) – Maternal factors – pyrexial illness, acute and chronic – Uterine abnormalities • second trimester miscarriage? – Previous second trimester miscarriage – Bacterial vaginosis, and other vaginal infections – Cervical incompetence – Genetic abnormalities – Maternal medical disorders (Lupus, ACA) – Uterine abnormalities – Intrauterine infection • ectopic pregnancy? – Previous ectopic pregnancy – PID – Tubal surgery – Sterilisation – IUCD
  24. 24. 3. Make a note of the clinical features typically associated with: • Threatened miscarriage – Symptoms of pregnancy – Bleeding – Abdominal cramps/minimal pain – Uterus appropriate for dates – Cervix closed • Inevitable miscarriage – Bleeding – Pain – Uterus appropriate for dates – Cervix open – Passage of Products of Conception • ruptured ectopic pregnancy – Shock – Peritonism – Cervical excitation – Uterus small for dates • tubal abortion – Abdominal pain/peritonism – PV bleeding – Uterus small for dates – Cervix closed – Shoulder pain 4. What investigations may be used in the assessment of patients with bleeding in early pregnancy? – Pregnancy test; serum hCG; – abdominal/pelvic examination; – transvaginal pelvic ultrasound – Laparoscopy; FBC and G&S
  25. 25. 5. What are the common steps in the management of: • threatened miscarriage? – Speculum/PV assessment – Ultrasound; – Reassurance – Anti-D may be needed • incomplete miscarriage? – Speculum/PV assessment – Evacuation of uterus (may use polyp forces if products protruding out of os otherwise GA ERCP); – Syntometrine may be useful, – send specimen for histopathology – may need Anti-D • ectopic pregnancy? – IVI fluid resuscitation /X match blood – Immediate surgery: Laparoscopy/laparotomy – Salpingectomy – Replenish lost blood 6. What clinical features suggest a diagnosis of a hydatidiform mole? – Bleeding – Large for dates uterus – Passage of grape like vesicles – Hyperemesis – Early PPIH or thyroid dysfunction – Markedly elevated hCG 7. What local causes in the vagina may predispose to bleeding in early pregnancy? – Cervical erosion – Cervical carcinoma – Cervical polyp
  26. 26. 1. Define antepartum haemorrhage (APH). – Genital tract bleeding after 24 weeks of pregnancy 2. What is placenta praevia? – Placenta lying in the lower segment of the uterus alongside or in front of the presenting part 3. How does placenta praevia typically present? – Painless PV bleeding – Incidental finding on ultrasound – Fetal malpresentation 4. What clinical findings would support a diagnosis of placenta praevia as the cause of APH? – Non tender uterus – Abnormal fetal lie – High presenting part – Shock compatible with blood loss observed – Normal fetal heart 5. What is placental abruption? – Premature separation of the placenta which is normally sited 6. How may placental abruption present? – Abdominal painconstant; greatest in concealed abruption; – Vaginal bleeding – Shock 7. What clinical findings would support a diagnosis of placental abruption as the cause of APH? – Tender/tense uterus – Difficulty in feeling fetal parts – Shock not compatible with blood loss observed – Fetal distress or absent FH 8. What other conditions may present as an APH? – Vasa praevia – Local causes (e.g. cervical cancer or erosion)
  27. 27. 9. What are the major complications of placental abruption? – Maternal death – Renal failure – DIC – IUD (intrauterine Death) – PPH (postpartum haemorrhage) 10. What would be your initial management of a patient admitted with an APH? – IV access and ivi infusion-fluid resuscitation – FBC and Xmatch – Stop haemorrhage if severe: necessitates fetus and placenta delivery – Check fetus; FHR and CTG 11. What investigations would you perform on a patient admitted with an APH? – FBC – Clotting screen – G+S – Ultrasound - placental site – CTG-fetal assessment
  28. 28. 1. What is the classification of hypertension in pregnancy? – Chronic (if present before 20 weeks) or Pregnancy induced (if present de novo after 20weeks) 2. What features are commonly associated with hypertension to give a diagnosis of preeclampsia? – Proteinuria (>0.3g/24hr or 0.5g/L) – Oedema 3. What Factors are associated with an increased incidence of pre eclampsia? – Family History – First pregnancy – Extremes of age – Twins – Pre-existing hypertension; – Renal disease – Diabetes 4. What investigations should be carried out in a patient with pre eclampsia to assess maternal and fetal wellbeing? – Mother: continuous BP measurement urinary output (hourly) urinary protein (ideally over 24hr) bloods [FBC, U+E’s, urates, LFTs, clotting, G&S] fundoscopy reflexes & clonus cervical status – Fetus: Growth Lie UA Doppler and Liquor Volume by ultrasound scan CTG-Fetal heart rate pattern
  29. 29. 5. What are the main maternal and fetal complications of pre eclampsia – Maternal: Death Eclampsia DIC HELLP syndrome CVA Renal failure Liver Capsule bleeding and failure Pulmonary oedema Cardiomyopathy/heart failure – Fetal: death IUGR hypoxic ischaemic encephalopathy 6. What symptoms may precede eclampsia? – None – headache, – visual disturbances – epigastric pain – nausea/vomiting – nasal congestion 7. What is the immediate management of a patient having an eclamptic fit? – Establish clear airway (use adjunct to prevent tongue aspiration) – position of patient – stop convulsion- iv MgSO4 8. What drug is used in the initial control of Eclamptic fits? – Magnesium sulphate (4g loading dose over 20 minutes then 1g/hr infusion) 9. What drugs are commonly used to control hypertension? – Labetalol – Hydralazine – Nifedipine
  30. 30. Part 1 1. Following delivery of a baby what simple steps should be taken after the cord has been clamped and cut? – All babies need to be kept warm; they should be dried and wrapped in warm towels. – Ifthe baby is pink and crying, they should be given to the mother. 2. Describe the Apgar score • Score of 0,1 or 2 for 5 dimensions. Scores are taken at 1 and 5 minutes after birth (sometimes at 10, 15 and 20 minutes if the baby is very sick) – Colour – Tone – Respirations / Vocalisation – Heart Rate – Reflex irritability 3. List 3 causes of acute birth asphyxia – Cord around neck – Shoulder dystocia – Placental abruption Part 2 1. What is the commonest cause of neonatal jaundice? – Physiological jaundice 2. Why does this occur? • Neonatal liver less efficient at conjugating bilirubin • short RBC life span • high postnatal Hb • reduced fluid intake • Bruising.
  31. 31. 3. What is the commonest mechanism for early neonatal jaundice (within 1st 24 hours)? – RBC haemolysis (e.g. Rhesus isoimmunisation, ABO incompatibility) 4. Define direct, indirect, conjugated, unconjugated and total serum bilirubin – Conjugated (direct) bilirubin is the amount of bilirubin which has been conjugated with glucuronic acid by the liver. – Unconjugated (indirect) bilirubin is the amount which has not been conjugated. – Total bilirubin is the sum of the two. – NB: Unconjugated bilirubin is lipid-soluble and may cross the blood-brain barrier. 5. At approximately what level may unconjugated hyperbilirubinaemia cause problems? – In term babies treatment (phototherapy) is usually initiated if unconjugated serum bilirubin reaches around 300mmol/l or more. Problems (sensorineural deafness or even kernicterus) may occur if SBR is >400mmol/l. – In preterm or sick infants these figures are much lower. 6. What is the commonest cause of prolonged neonatal jaundice? – Breast milk jaundice 7. List 3 pathological causes of (i) prolonged unconjugated jaundice – Hypothyroidism – Galactosaemia – Prematurity. (ii) prolonged jaundice with an elevated conjugated component. – Biliary atresia – congenital infection – neonatal hepatitis – a1 antitrypsin deficiency 8. List simple observations/tests which will help differentiate causes of prolonged jaundice. – Observe urine and stools (dark urine and pale stools suggests obstructive jaundice). – Check urine for reducing substances (Clinitest). Positive result may indicate galactosaemia or other problems with sugar metabolism. – Check thyroid function screening test (hypothyroidism). – Look for other signs of congenital infection.
  32. 32. Part 3 How may the following congenital abnormalities be diagnosed and what is the treatment? 1. accessory digit – observed on screening examination surgical removal 2. cleft lip and palate – lip may be diagnosed antenatally or observed on screening examination  surgical repair of lip at 3 months  repair of palate at 1 year 3. unilateral undescended testis – observed on screening examination  review at 6 weeks , if still undescended after 1 year - orchidopexy 4. congenital dislocation of the hip – Ortolani manoeuvre at screening examination, – confirm by US  splinting 5. duodenal atresia – may be diagnosed antenatally – or present with bile-stained vomiting – or abdominal distension usually in first 2 days  Surgical treatment 6. lumbar myelomeningocoele (neural tube defect, spina bifida) – Lumbar myelomeningocoele (spina bifida)- may be diagnosed antenatally (scan) and suspected due to raised maternal serum alfa-fetoprotein. At birth, a midline defect in the posterior elements of the vertebrae is noted with protrusion of the meninges and neural elements through an external dural sac. The infant suffers lower limb paralysis or bladder/bowel dysfunction.
  33. 33. Part 4 1. List 4 common problems of prematurity and describe the basic management of each – Hypothermia/thermoregulation problems  thermoneutral range, overhead heaters, incubators, clothing. – Hypoglycaemia  careful monitoring, frequent milk feeds, dextrose infusion. – Apnoea of prematurity  stimulation, caffeine or theophylline (respiratory stimulants). 2. What is surfactant and what is its physiological role? – Surface active material -90% lipid (mainly phospholipid), 10% protein – Decreases alveolar surface tension. Promotes alveolar stability and prevents atelectasis. – Release stimulated by a number of agents including lung inflation and hyperventilation. – Forms monomolecular layer on alveolar surface - hydrophobic fatty acid chains, hydrophilic polar head. – Surfactant deficiency is common in babies born prematurely (hyaline membrane disease or respiratory distress syndrome). 3. List 3 forms of treatment for surfactant deficiency (hyaline membrane disease, respiratory distress syndrome) – Additional oxygen – Continuous positive airways pressure (CPAP) – Intermittent positive pressure ventilation (IPPV) – Exogenous surfactant. 4. What are the approximate survival rates for normally formed babies born at the following gestations: • 23 weeks – <10% • 24 weeks – 40-50% • 26 weeks – 50-60% • 28 weeks – 80-90% • 30 weeks – >95%
  34. 34. Obs and Gobs 56
  35. 35. To do list:• WRITE UP LECTURES AS YET UNWRITTEN • Ethics & Law – Consent and pregnant minors – Consent during labour/limits to paternalistic intervention on behalf of the fetus: ethical aspects of the timing and management of delivery / benefits and difficulties with birth plans. – Human Fertilisation and Embryology Act: legal aspects of infertility treatment – Ethical aspects of infertility treatment: interpreting section 13(5) considerations about the welfare of the future child. – Miscarriage Act & Human Fertilisation and Embryology Act: legal aspects of miscarriage – Ethical aspects of miscarriage: status of the fetus, conscientious objection and its limits, termination for fetal abnormality, quality of life assessments, risk of poor quality of life assessments – Sterilisation, contraception, removal of contraceptive devices and assistance with fertility: medical intervention and the determination of the welfare of the future child, why is there more (ethical & legal) discretion in some areas than others? – Arguments for and against the non-directiveness principle in genetic counselling – Ownership of genetic information and family entitlement to genetic information: arguments for and against the duty to warn other family members of genetic problems within families. • State the definition of menorrhagia and its clinical features • Demonstrate knowledge of the pathological causes of heavy, painful and intermenstrual bleeding • Describe and be able to interpret the results of methods used in the investigation of abnormal menstrual bleeding • Describe the conservative and surgical management of menorrhagia and painful menstruation • 4 Describe events occurring at the menopause and their management • 4.3 Demonstrate knowledge of therapeutic measures taken to manage these symptoms • 4.4 Describe long term protective effects of hormone replacement therapy • 4.5 Counsel a patient with menopause regarding hormone replacement therapy
  36. 36. Demonstrate an understanding of the processes involved in antenatal care and pregnancy surveillance 1.6 Demonstrate knowledge of the common complications encountered in obstetric practice 1.7 Examine a pregnant woman 2. Demonstrate a knowledge of the methods used to screen pregnancies for fetal abnormality and growth 3. Demonstrate understanding of normal labour 3.1 Demonstrate an understanding of the events surrounding the onset of labour 3.2 Understand the causes and consequences of pre-term labour 3.3 Understand the mechanisms of normal labour and delivery 3.4 Demonstrate a knowledge of the symptoms and signs of labour 3.5 Define the stages of labour 3.6 Demonstrate a knowledge of and understand methods of maternal and fetal monitoring in labour 3.7 Assess the progress of labour using a partogram 3.8 Demonstrate a knowledge of the types of analgesia used in labour 3.9 Be aware of methods and sequelae of operative delivery 4. Demonstrate knowledge of the events occurring in puerperium 4.1 Demonstrate knowledge of the hormonal changes in the puerperium Levels of oestrogen, progesterone (and other hormones to do with conception and birth) drop suddenly after the baby is born. 4.2 Demonstrate knowledge of the anatomical changes in the puerperium 4.3 Discuss the mechanisms whereby breast milk is produced and ejected 4.6 To be able to counsel a patient following childbirth with regards to family planning 4.7 Discuss the management of pain in the puerperium
  37. 37. 5. Psychological aspects of the puerperium 5.1 To know the incidence of maternity blues, depression and puerperal psychosis 5.2 To understand the relevant predisposing factors behind the conditions above 5.3 To be able to instigate appropriate management for these conditions. 5.4 To be aware of the importance of counselling patients about events during childbirth which the women may have not been mentally prepared. 1. Describe causes, investigation and management of prolapse and incontinence 1.1. State the definition of prolapse and its clinical features 1.3. Demonstrate knowledge of the pathological causes of prolapse 1.5. Describe the conservative and surgical management of prolapse 4. Assess a patient for fertility control 4.2. Describe medical aspects of termination of pregnancy 5. Ethical and legal aspects of fertility control 5.1. Summarise the legal, ethical and medical aspects of termination of pregnancy Genetics 1. Determine which pregnancies are likely to be at increased risk of genetic disorder or fetal malformation 2. Draw a family tree 3. Recognise patterns of inheritance shown by autosomal dominant and recessive, and Xlinked recessive traits 4. Consider the possibility of chromosomal translocation as a cause of recurrent pregnancy loss. 5. Identify family members at risk 6. Understand the principles of genetic counselling 7. Outline genetic mechanisms which cause developmental abnormalities 8. Outline environmental factors which can affect fetal development
  38. 38. Pregnancy 1. Demonstrate knowledge of the management of massive haemorrhage 1.1 To demonstrate knowledge of the pathophysiological events of haemorrhage 1.2 To understand the haematological investigations needed in a patient with massive haemorrhage 1.3 To understand how blood is cross-matched 1.4 Know the principles of siting an intravenous cannula: with particular reference to the siting of a large cannula in a large vein 1.5 To understand the clinical rationale of circulating blood volume replacement with: • Crystalloid • Colloid • Blood products 1.6 To understand that as well as red cells, other blood products such as platelets and fresh frozen plasma need to be replaced 1.7 To understand the potential problems of continuing haemorrhage, such as disseminated intravascular coagulopathy 2. To be able to demonstrate knowledge and a management strategy for subjects with a) early pregnancy and b) late pregnancy haemorrhage 2.1 To understand the specific clinical diagnosis of threatened, incomplete and complete miscarriage 2.2 To be able to describe the medical and surgical management of patients who are/have miscarried 2.3 To understand why products of conception need to be investigated both histopathologically and cytogenetically 2.4 Post natal follow up of women with miscarriage 2.5 To understand the definition of recurrent miscarriage and its significance
  39. 39. 3. To be able to demonstrate knowledge and management of antepartum haemorrhage 3.1 To be able to define antepartum haemorrhage 3.2 To be able to describe and manage a subject with abruptio-placentae 3.3 To be able to describe and manage a patient with placenta praevia 3.4 To know the recommendations of the recent maternal mortality report on managing massive obstetric haemorrhage with particular reference to abruptio-placentae and placenta praevia 4. To demonstrate knowledge of the management of hypertension of pregnancy 4.1 To demonstrate how to take a blood pressure in pregnancy and the different estimates of systolic and diastolic blood pressure 4.2 To be able to test a urine sample for protein and to describe possible factors that may indicate false positivity of proteinuria detection 4.3 To be able to define "significant" proteinuria 5. To be able to describe the classification and predisposing factors of hypertension in pregnancy 5.1 To describe common maternal complications of pregnancy induced hypertension 5.2 To describe the common perinatal complications of pregnancy induced hypertension 5.3 To assess and describe the management of hypertension of pregnancy 5.4 Report on timing and management of delivery 5.5 To understand the concerns of patients with pregnancy induced hypertension and how to counsel her
  40. 40. 6. To demonstrate knowledge of the management of a patient with diabetes in pregnancy 6.1 Describe the classification of diabetes in pregnancy with reference to pre-existing insulin dependent diabetes and gestational diabetes 6.2 To observe and understand how an oral glucose tolerance test (GTT) is performed 6.3 To understand the rationale of pre-pregnancy counselling and advice in diabetic women 6.4 To describe the theoretical teratogenic risks to a pregnancy of a diabetic woman 6.5 To understand the rationale of altering pharmacotherapy in diabetes prior to pregnancy 6.6 To describe the effects of pregnancy on insulin dependent diabetes 6.7 To describe the effects of insulin dependent diabetes on pregnancy 6.8 To report on timing and management of delivery 7. To demonstrate knowledge of the management of a patient with anaemia in pregnancy 7.1 Describe the classification of anaemia in pregnancy 7.2 To understand the rationale of pre-pregnancy counselling and advice in anaemic women 7.3 To understand the investigations done for anaemia and interpretation of the results 7.4 To understand the rationale of prescribing iron therapy in pregnancy 7.5 To describe the effects of anaemia on pregnancy, delivery and puerperium 8. Complications of the puerperium 8.1 To be able to define secondary postpartum haemorrhage 8.2 To appreciate the historical importance of puerperal sepsis and the modern improvements that keep the incidence of this disorder at a low incidence 8.3 The management of mastitis and breast abscesses 8.4 To be able to give advice to women regarding incontinence, faecal and urinary
  41. 41. Oncology 1 Describe causes, investigation and management abnormal cervical cytology 1.1 Demonstrate a knowledge of the classification, interpretation and importance of cervical cytology 1.2 Demonstrate a knowledge of the clinical, aetiological and histological features of premalignant and malignant diseases of the cervix 1.3 Describe the treatment and follow up of cervical intraepithelial neoplasia (CIN) 1.5 Counsel a patient with an abnormal cervical smear 2 Describe causes, investigation and management uterine and adnexal pathology 2.2 Demonstrate knowledge of the pathological causes of postmenopausal bleeding 2.3 Describe and be able to interpret the results of methods used in the investigation of postmenopausal bleeding 2.4 Give examples of conditions which can present with a uterine and adnexal pathology 2.5 Demonstrate a knowledge of the other clinical features of pelvic masses 2.6 Describe and be able to interpret the results of methods used in the investigation of pelvic masses 2.7 Demonstrate a knowledge of the histopathology of conditions associated pelvic masses 2.8 Be aware of the concerns patients have about gynaecological malignancy Neonatology 1. Understand the principles of the new-born examination 1.1. Observe and practice the new-born examination. Be familiar with the common abnormalities found in the screening examination.
  42. 42. 2. Understand the basic physiological adaptations, which occur in babies at birth. 2.1. Cardiorespiratory adaptation - Lung inflation, surfactant, circulatory changes from fetus to neonate. 2.2. Birth asphyxia and the basic principles of neonatal resuscitation 3. Understand the common problems which occur in the new-born baby 3.1 Describe the diagnosis and management of common minor and major congenital anomalies 3.2 Neonatal jaundice - understand the aetiology of physiological jaundice and be able to investigate and diagnose the common causes of pathological jaundice 3.3 Respiratory problems - be able to understand the presenting features, investigation and outcome of transient tachypnoea, surfactant deficiency, congenital pneumonia, meconium aspiration. 3.4 Prematurity - describe the common problems encountered by infants born prematurely, particularly ... temperature instability surfactant deficiency apnoea hypoglycaemia. Have an appreciation of the outcome for such infants. 3.5 Small for gestational age infants and infants of diabetic mothers - understand the problems encountered by these groups particularly blood sugar control. 4. Infant feeding and nutrition 4.1 Describe the basic components of breast milk and infant formula 4.2 Understand the nutritional requirements for normal infant growth 5. Important conditions affecting newborn babies 5.1 Be aware of important symptoms in babies e.g. cyanosis, collapse, seizures, hypotonia. 5.2 Have some understanding of assessment of ill babies, the importance of differential diagnoses and the initiation of treatment.
  43. 43. Ethics & Law • Fraser (Gillick) Competance – Young person understands the health professionals advice – HCP cannot persuade the young person to inform his or her parents & will not allow the doctor to inform the parents that he or she is seeking contraceptive advice – The young person is likely to begin or continue having sexual intercourse with or without contraceptive treatment – Unless he or she receives contraceptive advice or treatment, the young person’s mental health or physical health or both are likely to suffer – The young person’s best interests require the health professional to give contraceptive advice or treatment or both, without parental consent
  44. 44. Ethics & Law • Who has parental responsibility? – Mother of child – Father of the child if married to the mother at insemination or birth – The unmarried father of the child can obtain parental responsibility: • Marrying the mother • Written agreement with mother • Court order • Father appointed child’s guardian after mother’s death – NB: Parental responsibility remains after a divorce – The law assumes that the child of a married woman is the child of her husband
  45. 45. Ethics & Law • Non-Directiveness in genetic Counselling – Tell them the facts but do not tell them what to do • For – You should not prescribe your ethics and moral beliefs onto a patient – Autonomy remains with mother • Against – Mother does not have medical degree – May regret a decision to terminate later in life or vise versa.
  46. 46. Ethics & Law • Assisted Conception – An important question is whether a disease model fits the problem of infertility and therefore whether infertility treatment should be available on the NHS – Artificial Insemination by Husband (AIH) • Partner’s sperm is collected washed and injected into the woman’s vagina – no ethic – Posthumous AIH • Need consent to store sperm from husband • The husband will not be considered the father even though it is his sperm being used – Artificial Insemination by Donor • Donors need to be over the age of 18. they no longer have the right to remain anonymous • Donor is not to be treated like the father – In vitro Fertilisation (IVF) • No more than 2 embryos or eggs should be implanted due to issues of risks of multiple births & ethics of selective reduction • Issues re disposal of embryo – Embryo Donation • The recipient woman who bears the child will be considered the legal mother
  47. 47. Ethics & Law • Assisted Conception – Surrogacy • True Surrogate = the ova and womb of a surrogate are used with the sperm of the commissioning father • Host Surrogate = ova *sperm of commissioning couple is implanted into surrogate mother • No surrogacy agreement is enforceable (protecting from third party commissioning) • Child is to be treated as the child of the commissioning couple PROVIDED one or both the commissioning couple’s gametes were used to create the embryo • To obtain a parental order the procedure must be in a licensed clinic & cannot be “DIY” & all applicants must be husband & wife • The gestational mother is the legal mother even though it is clear she will not be the social mother • Placement Orders are subject to certain conditions: – Application made within 6 months of the birth of the child – At the time of the application the child’s home is with the commissioning couple – Both applicants >18 – The woman who carried the child has freely & with full understanding of what is involved, agreed unconditionally to the making of the order$ – The woman’s agreement is not given less than 6 weeks after teh birth – No money or benefit other than for reasonably incurred expenses is given or received by the commissioning couple in relation to the arrangement and making of the parental order unless authorised by the court – Section 13(5) • A woman shall not be provide with treatment service unless account has been taken of the welfare of any child who may be born as a result of treatment & any other child that may be affected by the birth • Legally have to consider parental commitment, age, health, ability to provide a stable environment, &care for a disabled child.
  48. 48. Ethics & Law • Termination of Pregnancy – The1967 Abortion Act allows termination before 24 weeks of gestation if it: • Reduces the risk to mother's life or • Reduces the risk to her physical or mental health or • Reduces the risk to physical or mental health of her existing children or • The baby is at substantial risk of being seriously mentally or physically handicapped – There is no upper limit on gestational time if there is: • Risk to the mother's life • Risk of grave, permanent injury to the mother's physical/mental health (allowing for reasonably foreseeable circumstances) • Substantial risk that, if the child were born, it would suffer such physical or mental abnormalities as to be seriously handicapped. Such TOPs must be conducted in an NHS hospital. • NB: <1% TOPs are performed after 20 weeks. This is usually following amniocentesis, or in very young girls who have concealed or not recognised the pregnancy.
  49. 49. Ethics & Law • Termination of Pregnancy – TOP in girls under 16 years – Form HSA1 must be signed by 2 doctors in girls under 16 years age. GMC guidelines are that girls <16 years may be able to reach an informed decision depending on their capacity to comprehend everything involved in the procedure. – However, in those cases where a competent underage girl refuses termination, it may be possible for a parent or guardian to authorise termination if it is the girl's best interests. In Scotland, parental consent cannot be given if a competent girl has refused termination. – In girls <16 years deemed unable to reach an informed decision, a parent or guardian may give consent to or refuse termination. However, you may ask a court to overrule if you believe that it is not in child's best interests to consent to or refuse treatment.
  50. 50. Terminology • Menarche – a woman’s first menstruation • The menopause means literally the last period • The term climacteric or peri-menopause is used to describe the years either side of the menopause. • Premature (early) menopause – Before 35 • Regular menstrual cycles – Less than 8 days variation between longest and shortest menstrual cycle
  51. 51. Drugs in O&G • Ergometrine – alpha-adrenergic, dopamine and serotonin (5-HT2) receptors to exert a powerful stimulant effect on the uterus – use in obstetrics to facilitate delivery of the placenta and to prevent bleeding after childbirth by causing smooth muscle tissue in the blood vessel walls to narrow, thereby reducing blood flow. It is usually combined with oxytocin (syntocinon) as syntometrine. • Oxytocin – A naturally occurring hormone that can also be produced as a drug. Actions: • Letdown reflex – in lactating (breastfeeding) mothers, oxytocin acts at the mammary glands, causing milk to be 'let down' into a collecting chamber • Uterine contraction – important for cervical dilation before birth and causes contractions during the second and third stages of labour. • Contributes to orgasm • Mifepristone – a synthetic steroid compound used as an abortifacient in the first two months of pregnancy, and in smaller doses as an emergency contraceptive.
  52. 52. Menstrual cycleThree Phases 1. Menstruation (Day 1- 4) – The first day of menstruation (bleeding) is classed as the first day of the menstrual cycle – Spasms of spiral arterioles (GE contracts, PGF dilates) – Extravastion and endometrial shedding – Fibrinolysis splits fibrinogen preventing clotting – Menstrual Phase is the period of shedding of the endometrial lining 2. The Follicular (Proliferative) Phase (Day 4 -14)  FSH matures the follicle which secretes oestrogen   Gradually increasing amounts of oestrogen  menses stop and uterus lining thickens • Ovulation (Day 14) – This defines the transition from Follicular to Luteal Phase – Mid-cycle (24-36hrs after LH surge) the dominant follicle releases an ovum (egg) – Oestrogen causes a surge of Luteinizing Hormone (LH) 3. The Luteal (Secretory) phase (Day 14- 28) – Without fertilisation the egg only lives for 1day. – The remains of the dominant follicle by lutenisation forms a Corpus Luteum (CL). The Corpus Luteum produces a large quantity of Progesterone which causes the endometrium to prepare for possible Implantation of an embryo – If implantation does not occur within two weeks the CL involutes causing a sharp drop in progesterone and oestrogen. This drop causes the uterus to shed its lining in the process called Menstruation.
  53. 53. Test • In Menstruation what causes the shedding of the lining? – Ans: Drop in progesterone and Oestrogen • What prevents the blood from clotting in menstruation? – Firbinolysis • In the Follicular Phase what causes the release of Oestrogen? – FSH matures the follicle and it is the follicle which secretes oestrogen • What phase comes after the Follicular Phase? – Ovulation is the boundary before the Luteal or Secretory Phase • When does this occur? – Day 14 • What secretes Progesterone in the Secretory phase and what does this progesterone do? – Corupus Luteum. The progesterone causes the endometrium to prepare for implantation (spiral arteries)
  54. 54. Delayed Menarchy (>16 yrs) • Imperforate Hymen  Haemocolpos – Pelvic Pain! (“Dragging” in nature) • Vaginal Agenesis – Lower 1/3rd forms normally so not easy to spot • Embryogenesis – Upper 2/3rds forms along with the abdo organs whereas the lower 1/3rd forms from t anogenital plate – Prevents menstrual loss from escaping – Primary Amenorrhoea in teenage girl with normal sexual development complaining of: • Intermittent abdominal pain • Palpable lower abdominal swelling • Bulging, bluish membrane at end of vagina • Testicular Feminisation – Phenotype is XX but genotype is XY; testes are present – X-linked recessive inheritence – Treat patients as female but gonadectomy (due to cancer risk) after puberty, then oestrogen replacement therapy – Infertile
  55. 55. Delayed Puberty • Hypothalamic/ Pituitary Failure – E.g Prolatinoma / Thyroid • Gonadal Dysgenesis • Turner’s Syndrome – 45X • Amenorrhaoea, infertility, Short Stature, Failure of secondary sexual characteristics (see title of page!) • Webbing of neck • Increased Carrying angle • Cardiac Problems e.g. Coarctation of the aorta • Streak ovaries (prematurely failed ovaries due to aplasia) • If Y chromosome is present gonadectomy is advisable as the risk of malignancy is high! • Give Growth Hormone to prevent short stature before commencing Oestrogen Replacement Therapy
  56. 56. Primary Dysmenorhhoea • Definition: Pain soon after menarchy for which an organic or psychological cannot be found • Mechanism: – Local release of Prostaglandins  uterine spasm (usually associated with ovular cycles) • Clinical Features: – Colicky abdo pain occurring shortly after the onset of menses. – Tends to improve with age and after pregnancy • Management: – Exclude organic causes by history and examination – usually normal findings – Explanation – reassure no pelvic disease – Runs in families – Simple Analgesics – Prostaglandin synthetase inhibitors such as mefanamic acid – Combined OCP to suppress ovulation – Surgery like forced cervical dilation and presacral neurectomy are never indicated
  57. 57. Secondary Dysmenorrhoea • Definition: Painful periods for which an organic or psychosexual cause is demonstrated • Features: – Commences in adult life – Begins several days before the menses • Causes – Endometriosis – Adenomyosis – Chronic Pelvic Inflammatory Disease • Management – Laparoscopy can be helpful – Mainstay of treatment is to deal with the underlying cause…
  58. 58. Dysmenorrhoea & Dyspareunia • Primary dysmenorrhoea is not associated with pathology. It occurs soon after menarche and is characterised by crampy, mid-line, lower abdominal pain on the first day of menstruation and ending within 24-48 hours. • Secondary dysmenorrhoea is associated with pathology (e.g. endometriosis). It occurs later in life, is usually pre-menstrual, in the back and lower abdomen, and lasts throughout menstruation. • Superficial dyspareunia is pain experienced at the vaginal introitus at the time of penetration. • Deep dyspareunia is pain felt in the pelvis or lower abdomen during or several hours after sexual intercourse.
  59. 59. Endometriosis • Definition: – The presence of endometrial tissue in sites other than the uterine cavity • Common sites: – Broad Ligaments – Pelvic peritoneum such as Uterosacral ligaments – Pouch of Douglas – Ovary – causing endometromas (chocolate cysts) – Fallopian Tubes – Uterine Muscle – this is called Adenomyosis • Diagnosis can only be truly made at histology • Features – Reproductive years but usually between 30-40 years – 50-70% nulliparous women and remaining majority of low parity – High social class • Symptoms – Severity NOT correlated with disease stage – Heavy often irregular menses – Secondary Amenorrhoea – Deep dyspaurenia (painful intercourse) – Pelvic Pain – Subfertility
  60. 60. Endometriosis • Pathogenesis – Retrograde Menstruation - backflow of menstrual fluid, epithelial cells ,and debris through the uterine tubes and into the peritoneal cavity. Since the fallopian tubes are open-ended (they are not joined to the ovaries, but open nearby), menstrual fluid can drip into the pelvic cavity. It is suspected that, in women who experience endometriosis, the endometrial tissue contained in the menstrual fluid sticks to whatever structures it lands on (such as the ovaries) and starts to grow. – Mechanical transplantation at time of surgery e.g. hysterectomy, rarely caesarean section – Venous lymphatic “metastasis” – account for rare pulmonary endometriosis – Immunologic – Genetic • Diagnosis – Bimanual Examination • Tender nodules on uterosacral ligaments at bimanual examination • Pelvic tendernss • Pelvic Fixation • Thickness of retrovaginal septum • Adnexal mass • Fixed tender retroverted uterus • Mullerian duct anomalies – Laparoscopy gives definite diagnosis • Differentials – Gastrointestinal Dx – Urinary Tract Dx – Pelvic Inflammatory Dx – Ovarian Cysts and Tumours
  61. 61. Endometriosis… • Management – Simple analgesics if symptoms mild and limited disease – Hormonal – best approach to younger women wishing to achieve a pregnancy after surgery • Continuous combined oral contraception / progestogen therapy for 6-9 months • Danazol for 6-9 months – Inhibits ovulation – Abolishes menses or virtually so – Androgen properties – side effects  stop rx if virilisation develops i.e. voice changes • GnRH agonists e.g. Zoladex, gestrinone – Injection every month – Side effects: Gives menopausal symptoms – Do not give for more than 6 months as it causes osteoporosis • Serozet – Progesterone only pill • Myrina
  62. 62. Endometriosis… • Management – Surgical • CO2 laser vaporisation of deposits • Small deposits can undergo diathermy • Large chocolate cysts require excisions • Hysterectomy and BSO
  63. 63. Adenomyosis • Endometrial tissue found deep in uterine muscle • Occurs in older more multiparous women – Increasing severe menorrhagia – Secondary dysmenorrhoea – Gradually enlarging tender uterus • Virtually impossible to diagnose without first removing uterus and getting histology • Generally don’t get better (until remove the uterus - hysterectomy)
  64. 64. Abnormal Menstrual Bleeding • Benign tumours e.g. fibroids • Malignant tumours • Inflammatory causes – PID, endometriosis • Dysfunctional Uterine Bleeding (DUB) – anovular – ovular • Others – Thyroid disorders – Von willibrand’d dx – Idiopathic thrombocytopaenia – Anticoagulant therapy
  65. 65. Fibroids (Leiomyomata) • Commonest tumour of female genital tract • Present in 20% of women over 35 years • Growth may be related to oestrogen stimulation • Types – Intramural (within uterine wall) – Subserous (projecting from peritoneal surface) – Submucous (indenting uterine cavity) • associated with heavy irregular periods – Intraligamentary (between layers of broad ligament) – Cervical • Gross Characteristics – Small, medium, large or multiple – White and whorled
  66. 66. Fibroids (Leiomyomata) • Symptoms – Majority symptomless – Heavy regular periods (rarely irregular bleeding from fibroid polyp) – Pressure symptoms on bladder / rectum – Abdominal swelling – Pain not common unless fibroid has become complicated – Rare association with polycythaemia • Complication in pregnancy of fibroids: – Subfertility – Abortion / preterm labour – Malpresentations – Obstructed labour (rare)
  67. 67. Fibroids (Leiomyomata) • Complications of Fibroids (pathological changes) – Hyaline degeneration • Common • Painful enlarged, soft fibroid where cystic degeneration follows – Red degeneration (necrobiosis) • Occurs typically in pregnancy due to infarction during mid-pregnancy – Calcification (womb stone) • postmenopausal – Sacromatous change • 2%. These spread very rapdly. • Histology is leiomyosarcoma – Infection (abscess) - rare – Torsion of pedunculated fibroid • Management – Depends on reproductive needs – Conservative (no rx) – Myomectomy after GnRH agonist to shrink the fibroids for women who are subfertile – Hysterectomy is definitive
  68. 68. Dysfunctional Uterine Bleeding (DUB) • 60% of cases of abnormal menstrual bleeding • Abnormal bleeding from the uterus NOT due to organic disease • Can be: – OVULAR ANOVULAR
  69. 69. Anovular DUB • Symptoms – Prolonged irregular cycle (after 6-8 weeks ammeorrhoea) – Ends in heavy, persistent bleeding with clots – Commonest at extremes of menstrual cycle • Mechanism – Failure of ovulation (unruptured follicle)  Excessive oestrogen production and unopposed progesterones Endometrial hyperplasia – ‘swiss cheese’ endometrium • Cystic glandular hyperplasia (metropathia haemorrhagica) • Management – Progestogens in second half of cycle – Hysterectomy
  70. 70. Ovular DUB • 70% of cases of DUB • Symptoms – Heavy regular menses with loss >80mls per cycle – 35-45 yrs – Normal endometrium • Mechanism – Not fully understood – ? Local disorder of prostaglandins and endometrial receptors ie. Excess vasodilator over vasoconstrictor prostaglandins – Failure of spiral artery constriction
  71. 71. Ovular DUB • Management – Conservative when reproductive function is still needed • Prostaglandin synthetase Inhibitors e.g. mefanamic acid • Antifibrinolytic therapy e.g. tranexamic acid (cyclokapron) • Combined OCP – (Progesterone therapy of NO value) • Luteal phase cyclical oral progestogen • Mirena Coil – Small dose of IU progesterone  uterus thins – Surgical when family is complete • Endometrial Ablation (less invasive but ? Long term side effects) – Laser – Cryosurgery – Resection – Diathermy with rollerball – microwave • Hysterectomy +/- BSO – Abdominal SE: 5-10% get stress incontinence or prolapse – Vaginal Psychological – Laproscopic assisted – Subtotal Hysterectomy – leave cervix to reduce SEs and possibly to improve orgasm, but cervical cancer risk!
  72. 72. PMS • Occurs in the 2 weeks leading up to menstrualtion (luteal phase) in some women • The most common symptoms are irritability, tension & dysphoria (unhappiness). Can also cause abdo bloating, abdo cramps, breast tenderness or swelling, insomnia, haedache, fatigue, acne, mood swings, & changes in libido. • Symptoms tend to decrease in perimenopausal women, and disappear at menopause • Risk factors: High caffiene intake, Stess, Older, Smoking, Family Hx, allergies, twins, • Has been used as an evolutionary idea against Monogamy - an infertile male/ potentially fertile female partnership would tend to break down, thus allowing a new pair-bond to be formed • Rx: – Conservative • Avoid, caffiene, alcohol. Eat little and often. Take fish oils. Aerobic exercise. Calcium supplementation. – Medical • SSRIs. • Hormonal interventions – COCP, GnRH agonists.
  73. 73. Folliculogenesis • Folliculogenesis is the maturation of the ovarian follicle, a densely-packed shell of somatic cells that contains an immature oocyte. • Folliculogenesis describes the progression of a number of small primordial follicles into large preovulatory follicles that enter the menstrual cycle. • Folliculogenesis ends when the remaining follicles in the ovaries are incapable of responding to the hormonal cues that previously recruited some follicles to mature. • The primary role of the follicle is oocyte support. From birth, the ovaries of the human female contain a number of immature, primordial follicles. These follicles contain a similarly immature primary oocyte. A clutch of follicles begins folliculogenesis, entering a growth pattern that will end in death or in ovulation (the process where the oocyte leaves the follicle). • Over the course of roughly a year, the primordial follicle undergoes a series of critical changes in character, both histologically and hormonally. Two-thirds of the way through, the follicles have transitioned to tertiary, or antral, follicles. They become dependent on hormones emanating from the host body, causing a substantial increase in growth rate. • With a little more than ten days until the end, most of the original group of follicles have died (a process known as atresia). The remaining cohort of follicles enter the menstrual cycle, competing with each other until only one follicle is left. This remaining follicle, the preovulatory follicle, ruptures and discharges the oocyte (that has since grown into a secondary oocyte), ending folliculogenesis.
  74. 74. Sterilisation Female Sterilisation • Methods – Laparoscopic clip sterilisation – Salpingectomy – Hysteroscopic sterilisation (Essure) • The history needs to cover – Is she sure? – Partner has considered vasectomy – Reversible contraception has equivalent efficacy (mirena/ Implanon) – Current Contraception and reason for change • Counselling needs to cover – Risk of ectopic pregnancy – Failure rate – Irreversability
  75. 75. Menopause • The menopause means literally the last period, but the term climacteric or peri-menopause is used to describe the years either side of the menopause. • Many women have several years of irregular periods and the climacteric can take place any time between 40 and 60. • Loss of production of oestrogen, as ovulation declines, results in recognised physical changes such as vasomotor symptoms of hot flushes, night sweats and vaginal dryness and psychological symptoms such as increased depression, irritability, or low libido are often reported. • There is little association between menopausal status and psychological symptoms and probably only vasomotor symptoms are associated with the time of the menopause. Women may encounter more stressful events during the climacteric, and family and sociocultural factors may be more important than changes in hormones. Physical changes may cause depression in postmenopausal women, and certain health problems may begin in middle age such as diabetes mellitus, weight gain and urinary incontinence. Different perspectives have been presented in order to account for changes during the menopause....
  76. 76. Biomedical model The menopause is seen as a hormone deficiency disease. Vasomotor symptoms occur because of a decline in the levels of oestrogen produced by the ovary. These symptoms respond well to oestrogen therapy and a number of well-controlled studies have shown the benefits of oestrogen therapy. However all women suffer declining levels of oestrogen but not all report either vasomotor symptoms or psychological changes. Cultural model Society may take a negative view of the menopause. In some societies in which ageing is associated with increased status and wisdom the menopause is seen positively. Mayan Indians in rural Mexico experience loss of oestrogen production in the same way as western women, although it occurs at a relatively early age (usually between 41 and 54). In a study of 54 women it was found that they did not report hot flushes or night sweats, nor did they suffer from osteoporosis (Martin et al 1993). The interviewer was a Mayan nurse’s aide and fluent in Spanish and Mayan. From their hormone levels about 80% would be expected to have hot flushes but not one of the 54 women reported hot flushes. This suggests a strong cultural component. Women may see the menopause negatively as a loss of femininity or positively as an end to the demands of childbearing. Psychosocial model Symptoms may be associated with stressful life events. If menopausal symptoms are assessed using standardised scales it is found that life stress contributes far more to menopausal symptoms than menopausal status, and worries about work and adolescent children are major factors influencing depression. Children leaving home may be a cause of grief, but there may be just as many problems if they don’t leave home and remain dependent.
  77. 77. MENOPAUSE • Post-menopausal = “Period free for >12 months” • Cessation of menses – average age 51 years in the UK • Early (premature) menopause – before 45 years • Climacteric – transition from reproductive to non-reproductive phase of life • Menopausal symptoms due to reduced oestrogens and progesterones – Hot Flushes – Night Sweats – Loss of Libido – Skin & vaginal Dryness – Lethargy / Depression • Gonadotrophins (LH/FSH) rise in response to ‘ovarian failure’ • Measurement of LH/FSH used in diagnosis, but there is no reliable test for the menopause • Combined HRT when uterus present and unopposed oestrogens when hysterectomy has been performed
  78. 78. HRT • Only about 1 in 10 women see’s her doctors because of menopausal symptoms. • All HRT contain an oestrogen hormone. HRT replaces that oestrogen that the ovaries no longer produces. • HRT is available as skin patches, gels, nasal sprays or implants. • However, if you just take oestrogen, the lining of the uterus builds up which increases the risk of uterine cancer • Therefore, the oestrogen is usually combined with a progestogen. • If you start HRT when you are still having periods or have just finished periods you will normally be advised to use a “cyclical combined HRT”  light (1or 3) monthly bleed • If you start HRT a year of more after your periods have stopped (post-menopausal) you will normally be advised to take a “continuous combined HRT”. • If you have had a hysterectomy you can take oestrogen-only HRT.
  79. 79. HRT • Benefits – Stops hot flushes & night sweats within a few weeks – Reverse vaginal & vulva changes within 1-3 months – Reduced risk of osteoporosis – Reduce risk of colorectal ca • Risks – Venous Thromboembolism (~doubled risk) • Lower risk if use patches cf. tablets – Breast Cancer (~doubled risk) • When off HRT for 5 years have same risk as someone who’s never used HRT – Stroke – Uterine cancer – Ovarian cancer
  80. 80. HRT Alternatives • Pessary • Vaginal oestrogen cream • SSRIs • .....see mentor • Tibilone
  81. 81. Tibolone • Tibolone is a man-made hormone that can be used as an alternative to HRT. It has some oestrogen, progestegen and androgen. • Effective in treating sweats and hot flushes • Reduces risk of osteoporosis • Greater efficacy to old HRT • May improve libedo • Associated with a small increased risk of stroke • Small increased risk of uterine ca and breast ca • ***In younger women the risks of Tibilone are about the same as HRT, but for women older than 60, the risks associated with taking tibilone start to outweigh the benefits because of the stroke risk ***
  82. 82. Genetics
  83. 83. Genetics Terminology • Anticipation – a disorder manifests at an earlier age and/or increases in severity in successive generations. Characteristic of dynamic mutations (trinucleotide repeats). E.g. myotonic dystrophy (CTG), Fragile X syndrome (CGG), Huntington’s Disease (CAG) • Genetic Heterogeneity – The phenomenon that a disorder can be caused by mutations at different loci. E.g. Adult PKD can be caused by mutations occurring in genes on chr 16 or 4. • Mosaicism – An error in mitotic cell division results in two cell lines with different genetics constitutions. This can be due to DNA replication errors resulting in a new mutation in a single gene, or aberrant cell division resulting in structural or numerical chromosome abnormalities. Mosaicism in the gonads can explain how apparently normal parents can transmit autosomal dominant conditions to >1 offspring. Somatic Mosaicism occurs more frequently - the effect on the phenotype depends on its timing during development and consequently the relative proportions of the two cell lines. • Imprinting – A gene or area of chromosome showing different expression depending on the parental origin. E.g. If the normal pattern of imprinting on 15q11-13 has failed this can cause Prader Willi Syndrome (polyphagia, short stature etc.) or Angleman syndromes depending on which parent has the altered expression of 15q. Imprinting problems can be inherited.
  84. 84. Genetics Terminology • Uniparental Disomy – When one individual inherited both of the chromosomes of a homologous pair from one parent. • Variable Penetrance – Variable proportion of people with affected gene with the clinical condition • Variable Expression – Some signs but not all occur clinically – Everyone who has the affected gene shows some disease signs (but different ones) to varying severities. • Reciprocal Translocations – Breakage of 2 non-homologous chromosomes with exchange of the fragments • Robertsonian Translocations – Acrosomic Chromosomes = 13, 14, 15, 21 & 22 – Clues: Multiple misscarriages, stillbirths and malformations.
  85. 85. Genetics • Single Gene Disorders – Copying errors before meiosis – Dominant, recessive or x-linked • Chromosomal Disorders – Multi-organ systems • Why is meiosis necessary? – Reduction Division – Variation - crossover • Why is mitosis necessary? – Production of identicle daughter cells • Only 1.2% of DNA is coding sequence • Mitochondria have 37 genes • 3000 genes encode untranslated RNA which bind to the back of mRNA to stop it translating. These are called microgenes.
  86. 86. Genetics • Risk factors for genetic Dx: – Family Hx – Consanguinity – Increased maternal age – Specific Populations • Mediteranian  Thalassaemia • Askanasi Jews  Tay Sachs Disease • Northern European  Cystic Fibrosis – Teratogen exposure • Sodium Valproate  Spina bifida • Phenytoin  Cleft lip and palate
  87. 87. Autosomal Dominant • Each child of someone with an autosomal dominant disorder has a ½ chance of inheriting the gene alteration • Common AD conditions – Dominant Otosclerosis (abnormal groth of middle ear  conductive hearing loss) – Familial hypercholesterolaemia – Von willibrand disease (deficiency of von willibrand factor, required for platelet adhesion) – Adult PKD – Huntingtons – Neurofibromatosis – Myotonic Dystrophy (multisystem dx – muscle wasting, cataracts, heart defects, myotonia. Anticipation - age at onset decreases c generations) – Marfans • AD conditions are more common than AR
  88. 88. Autosomal Recessive • Each child of 2 carriers of an AR defect has a 50% chance of being a carrier and ¼ chance of being affected. • The risk of a healthy sibling being a carrier is 2 in 3. (We know they are not affected) • Common AR Conditions: – Cystic Fibrosis • The hallmarks of cystic fibrosis are salty tasting skin, appetite but poor growth and poor weight gain, excess mucus production, and coughing/shortness of breath. Males can be infertile due to the condition congenital bilateral absence of the vas deferens. Often, symptoms of CF appear in infancy and childhood. Meconium ileus is a typical finding in newborn babies with CF. – Recessive Mental Retardation – Congenital deafness – Phenylketonuria (PKU) • Deficiency of Hepatic Phenylalanine Hydroxlase which helps metabolise the AA phenylalanine into tyrosine. Phenylalanine accumulates and is converted into phenylpyruvate (also known as phenylketone), which is detected in the urine. Rx = Diet low in phenyalanine and high in tyrosine. • Brain damage done is irreversible so early detection is crucial
  89. 89. X-linked recessive inheritance • When the mother is a carrier female offspring have a ½ of being a carrier, and male offspring have a ½ chance of being affected. • Example of X-linked conditions: – Fragile X Syndrome • Expansion of CGG trinucleotide repeat  elongated face, large or protruding ears, flat feet, larger testicles, low muscle tone, intellectual disability & shyness. Unlike other X-linked conditions, females can have symptoms – Non-specific X-linked mental retardation – Duchenne Muscular Dystrophy • Mutation in DMD gene encoding dystrophin. • Symptoms appear before age 6 and may be visible in early infancy – pseudohypertrophy of calves, can’t ascend stairs, – Gower's sign: The child helps himself to get up with upper extremities: first by rising to stand on his arms and knees, and then "walking" his hands up his legs to stand upright. • Rapid progression of muscle degeneration, eventually leading to loss of ambulation and death. – Haemophilia A (factor VIII) • cofactor for factor IX in the activation of factor X in the coagulation cascade • Sites of bleeding include joints, muscles, gut and brain. – Haemophilia B (factor IX)
  90. 90. X-linked Recessive inheritance • When the father is affected any male offspring cannot be affected but all daughters will be carriers
  91. 91. X Linked Dominant Inheritance • These are uncommon! • If a male is affect all his female offspring will be affected but no males will be affected • If female is affected ½ boys and ½ girls will be affected • Pedigrees can look very similar to Mitochondrial Inheritance! • Examples – Vitamin D – Resistant Rickets • Males worse affected than females – Goltz Syndorme • Lethal in males
  92. 92. X-linked Dominant vs Mitochondrial • Note: Mitochondria are always from the egg and are not transmitted in sperm • Affected female: – X-linked  ½ boys & ½ girls affected – Mitochondrial  All children affected • Affected male: – X-linked  All girls & no boys affected – Mitochondrial  No offspring affected
  93. 93. Chromosomal Translocations Robertsonian vs Reciprocal • Translocation = transfer of material between chromosomes, requiring breakage of both chromosomes, with repair in an abnormal arrangement • If the translocation results in no loss or gain of DNA, the individual is often clinically normal and is said to have a balanced translocation. A balanced translocation carrier is however at risk of producing chromosomally unbalanced gametes. • Reciprocal = breakage of two non-homologous chromosomes with exchange of the fragments. Any of the chromosomes can be involved. 1 in 500 • Robertsonian = Two long arms of two of the acrocentric chromosomes (13, 14, 15, 21 & 22) fuse together to produce a “new” chromosome. The short arms are lost but this doesn’t matter. The total chromosome number is reduced to 45. 1 in 1000. NB the short arms contain genes for ribosomal RNA for which there are multiple copies on the other acrocentric chromosomes
  94. 94. Robertsonian Translocations • Robertsonian carriers are generally assypmtomatic BUT they can produce unbalanced gametes resulting in monosomic or trisomic gametes • The commonest robertsonian translocation is between one chromosome 13 and one chromosome 14. – Carrier = 45,XY,der(13;14)(q10;q10) – Unbalanced = Trisomy 13 – Patau Syndrome • These babies usually die within the first few weeks or months of life • The most important Robertsonian Translocation is Trisomy 21 der(14;21) – Down’s Syndrome The clinical features of regular trisomy 21 and a robertsonian translocation involving 21 are exactly the same as both result in 3 copies of the genes on chromosome 21. The recuurence risks differ depending on whether Down is caused by regular trisomy or an unbalanced Robertsonian translocation – NB Trisomy 14, 15 and 22 are lethal • Pedigree features of robertsonian translocation – Mother young age/normal when gave birth to Downs kid – Children with features of downs in many generations – Miscarriage in early pregnancy
  95. 95. • In clinical practice the risk of having a liveborn downs child… – For a female Robertsonian 14;21 carrier is ~10% – For a male Robertsonian 14;21 carrier is ~1% – This is thought to be due to loss of spontaneous miscarriage & selection of sperm carrying translocation
  96. 96. Reciprocal Translocation • The breakpoints are different from family to family • Causes partial trisomy and partial monosomy • It is not possible to predict likelyhood of each possible gamete as the position of breakpoint • Unbalanced translocations can result in stillbirth, abortion, malformation &/or mental retardation. • Pedigree features of Reciprocal translocations – Multiple Miscarriages – Children in consecutive generations with congenital abnormalities
  97. 97. Note on Downs • Most Downs is caused by meiotic non-disjunction; not by translocations
  98. 98. Note on Downs... • 1 in 800 live births • Commonest chromosomal lesion • Other trisomies ... – 18 = Edwards (1 in 6000) – 13 = Patau’s (1 in 8000) • Increased risk with maternal age • Characteristic features – 40-50% have cardiac lesions
  99. 99. Downs Syndrome Features “SHE SLAB” • Symian crease NB normal in ~2% • Hypertelorism • Epicanthic fold • Sandal gap (space between big toe & 2nd toe) • Low set ears • ASD / VSD • Brushfield Spots – White or grey spots on the periphery of the iris • If a mother has 1 baby with downs Syndrome the chance that her next child will have Downs is increased by 1%
  100. 100. Down’s Syndrome Screening • Frequency – <25yrs 1 in 1400 – 35 1 in 500 – 40 1 in 80 – 45 1 in 20 • Nuchal translucency (12-16 weeks) >13mm • Triple Test (12-16 weeks) (βHCG, oestrogen, AFP) – Bleeding & BMI can alter the result – 60-70% sensitivity • Amniocentesis – 1% risk of miscarriage – Down falls: Amniotic fluid can be contaminated by maternal fluid or mosaic pattern of foetal cells • Chorionic Villous Sampling (Biopsy of placenta (cultured)) – 2% risk of miscarriage – More reliable & able to find out about metabolic disorders.
  101. 101. Mitochondrial Mutations • Mitochondria possess their own genetic material, coding for enzymes in energy-yielding reactions • Mutations cause certain human diseases, particularly involving the neuromuscular system (called Mitochondrial Myopathies). • In addition to these other examples include, Diabetes Mellitus and Deafness (DAD) & Leber’s Hereditary Optic Neuropathy (LHON) • As mitochondrial are inherited only from the mother, transmission of such a disease is exclusively through female relatives. • Affected men cannot transmit the dx
  102. 102. Summary / Test • What has these patterns? – 1) Males & females affected in equal proportions, Vertical Transmission & All forms of transmission are observed. • ANS: Autosomal Dominant – 2) Males and females are affected, but females are affected more frequently, Females are usually less severely affected than males because of lyonisation & While affected females can transmit the disorder to male and female children, affected males transmit it only to their daughters, all of whom are affecte • Ans: X-linked Dominant – 3) Males affected almost exclusively, Transmitted through carrier females to their sons (“knights move” patterns) & affected males cannot transmit the disorder to their sons. • Ans: X-linked Recessive – 4) Males and Females affected in equal proportions, Individuals affected in a single sibship in one generation & Consanguinity in the parrents provides further support. • Ans: Autosomal Recessive
  103. 103. Drawing a pedigree 1. Choose one parent. Ask about their siblings and their children, then parents • Name, DOB, Relevant symptoms, Diagnoses & age at diagnosis, Cause of death and age at death 1. Build the tree up from the bottom starting with affected children and siblings. 2. Ask for miscarriages, stillbirths or deaths 3. Ask about children with other partners 4. Ask about consanguinity 5. Date and sign the pedigree
  104. 104. Ethics and genetics • Breaking Confidentiality – The law takes a utilitarian view  If you believe more harm will come of not breaking confidentiality then you can break it. • Adult onset conditions – Do NOT test children for adult onset conditions, unless the child shows signs of the condition.
  105. 105. Neural Tube Defect • Normal Risk = 0.11 % • Mothers with a previous NTD foetus have 10x increased risk (1%) • Mothers with a previous NTD baby have a 40x risk (4%) – Folic acid reduces this risk by 75% to 1% • Risk factors – Folate intake • 400mcg Should be taken 4 months preconceptually to 12 weeks gestation • Periconceptual folic acid reduces the probability of reoccurance by 75% – Epilepsy Meds esp. Sodium valproate! – Folate antagonists – Diabetes – Celtic Origin – Variant in MTHFR gene (methyltetrahydrofolate reductase) – Multiparity AND age – Poor socioeconomic status
  106. 106. Incontinence Terminology • Frequency = >8x /day or <2 hourly • Nocturia – >1x in <70yr old – >2x in >70yr old – >3x in >80yr old
  107. 107. Urinary Incontinence Four types: 1. Urge – Involuntary bladder contractions due to Detrusor Instability 1. Stress – On raising intrabdominal pressure, overcomes urethral closing pressure 1. Overflow – If bladder cannot empty completely, frequency can increase + dribbling occurs – Cause can be obstruction or weak detrusor muscle 1. Neuropathic – Damage to nerve supply causes loss of control – Bladder dysfunction with detrusor overactivity & sphincter disturbance – Cause can be: Parkinsons, MS, Diabetes, Dementia, Spina Bifida & Malignancy
  108. 108. Urinary IncontinenceUrge Incontinence – Involuntary contractions during the filling phase – Underlying abnormality is overactive detrusor – Sudden urge to pass urine, which often results in incontinence – Usually idiopathic – Most common in middle-aged women – Look for evidence of – Stroke, Parkinsons, Dementia – Other causes: – UTI, diabetes, diuretics, “senile” vaginitis, urethritis – 20% women aged 20-65 have one UTI a year – Investigations – Urodynamics – Shows regular contractions of the detrusor while the bladder is filling – Management – Conservative – Bladder retraining, maximise access to toilet, advice on toilet regime & avoid caffiene – Medical – Anticholinergics – TOLTERIDINE – OXYBUTYNIN (patches) – SEs: Blurred Vision, Dry mouth, constipation ALWAYS ASK ABOUT GLAUCOMA – Botulinum Toxin – Injected into bladder via cystoscope – Surgical – Clam Ileostomy – rare; last resort
  109. 109. Urinary IncontinenceStress Incontinence – Involuntary loss of urine when pressure in the bladder rises above that of the urethral closing pressure – Sudden increase in intra-abdominal pressure (cough, sneeze) cause incontinence – Common in middle aged multiparous women – Caused by pelvic floor weakness secondary to childbirth – Investigations – Examination – Look for a cystocoele (bladder protruding into ant. Vagina) – Bladder Diary – Record frequency and volume – MSU – Look for UTI – Cystometry / Urodynamics – Shows flow of urine when pt coughs – Management – Conservative – Kegel exercise for 6 months + Weight loss + Fluid advice – Weight loss – Stop smoking – Decrease caffeine intake – Medical – Topical oestrogen for atrophic vagiitis – SSNRIs + duloxetine. Anticholinergics for mixed picture e.g. Tolteridine – Surgical 1. Artificial Urinary Sphincters + Urethral Bulking agents (e.g. collagen) 2. Vaginal Slings – Low morbidity – Transvaginal proceedure carried out under LA & as a day case 1. Burch Colposuspenion – lift the bladder neck and fixed to the back of the pubic bone – GOLD STANDARD
  110. 110. Urinary Incontinence Neuropathic – Damage to nerve supply causes Detrusor Overactivity and sphincter disturbance – Causes – Dementia, Parkinsons, Diabetes, MS, Spinal Cord Lesion, Spina Bifida, Malignancy – Management – Treat the cause – Treat Complications – (Including Incontinence, Recurrent UTIs, High Vesical Pressure)
  111. 111. Urodynamics • Role: Differentiate between DI and sphincter incompetence • May show: – Reduced Bladder Capacity – High Bladder Pressure (increases to >15cmH20 during filling phase) – Spontaneous detrusor activity during filling phase or contraction in response to provocation such as change in posture
  112. 112. Prolapse • A prolapse occurs when weakness of the supporting structures allows the pelvic organs to sag within the vagina. • The weakness may be congenital but is usually results from stretching during childbirth. Poor perineal repair reduced support. • Weakness is exacerbated by menopausal atrophy & coughing & straining. • They are not a danger to health apart from a third degree uterine prolapse with a cystocoele, when ureteric obstruction can occur. • Cystocoele – upper front wall of vagina & bladder bulge. Residual urine in the cystocoele may cause frequency & dysuria • Urethrocoele – lower anterior wall of vagina bulges  displaces urethra and impairs sphincter  stress incontinence • Rectocoele – middle posterior vaginal wall & rectum bulge, May have to reduce hernia prior to defecation. • Enterocoele – upper post. Wall may contain loops of bowel from the pouch of douglas
  113. 113. Prolapse • 10% Lifetime Risk • 30% Reoccurence rate • Factors: Multiparity (even with C/S) Traumatic Delivery (Forceps > Ventouse) Length of time in / past menopause • Rectocoele – High posterior. Put finger in bulge through PR. – “Digitate to defecate” • Push prolapse back up to defeacate • Enterocoele – Low posterior. Cannot put finger in bulge via PR
  114. 114. Prolapse • Uterine Prolapse 1st degree – cervix stay in vagina 2nd degree – cervix protrudes from the introitus when standing or staining 3rd degree (procidentia) – Uterus lies outside the vagina. Vagina becomes keratinized and the cervix may ulcerate • Symptoms of Prolapse “Dragging or something coming down worse during the day. Cystitis, frequency, stress incontinence & difficulty in deafecation • Examine vaginal walls in left lateral position with a sims speculum & ask the patient to bear down • Do urodynamic studies to exclude detrusor over-activity & assess voiding • Prevention: lower parity, kegel exercises
  115. 115. Prolapse • Treatment: • Conservative: Lose weight, Stop smoking (cough), Stop straining. Kegel Exercises Topical Oestrogen if menopausal Ring Pessaries • Surgical: Repair Surgery • Indications for surgery are: failure of pessary, patient who wants definitive treatment, prolapse combined with urinary or faecal incontinence. • Cystocoele /Urethrocoele  Anterior Colporrhaphy (central plication of the fibromuscular layer of the anterior vaginal wall. Mesh reinforcement may also be used. Performed transvaginally. Intraoperative complications are uncommon but haemorrhage, haematoma, and cystotomy may occur) or Colpsuspension (performed for urethral sphincter incontinence associated with a cystourethrocele. The paravaginal fascia on either side of the bladder neck and the base of the bladder are approximated to the pelvic side wall by sutures placed through the ipsilateral iliopectineal ligament) • Uterine Prolaspe  Hysterectomy / sacrohysteropexy / Sacrospinous fixation / Iliococcygeal Hitch • Rectocoele  Posterior Colporrhaphy
  116. 116. Infertility • Definition: Inability to conceive after 1 year of regular unprotected intercourse • Primary (70%) – never been pregnant before • Secondary (30%)– Has been pregnant before • Female Causes (41%) – Anovulation – Pelvic Adhesions / Endometriosis – Tubal Damage •Male Causes (25%) - Lack of sperm -Lack of sperm viability
  117. 117. Infertility • Causes of anovulation – Ovarian (high FSH) • Primary ovarian Failure • Ovarian Dysfunction – Higher Centres (low FSH) • Pituitary Failure • Hyperprolactinaemia • Hypothalamic Dysfunction • Thyroid Dysfunction • Causes of Tubal Damage – Congenital – Traumatic (pelvic and abdo surgery) – Pelvic Inflammatory Disease (PID) • E.g. Chlamydia (especially if >1 episode) – Neoplastic
  118. 118. Assessment of Infertility • Ovulation – Mid-luteal progesterone • Progesterone levels 7 days before the end of the cycle • Level 6 ng/ml or 19 nmol/L indicates Ovulation • Level <5 nmol/L suggests Ovulation did not occur – Transvaginal (TV) scanning for follicular monitoring – Check breasts for galactorrhoea (Prolactinoma) • Tubal Damage – Hysterosalpingogram • X-ray & dye – Selective Salpingography • Canulate fallopian tube + dye + x-ray – Laproscopy and dye (methylene blue) test • Sperm – Seminal Fluid Analysis • >20million /ml • >50% motility • >15% Normal forms Triple Swabs High vaginal Swabs - Bacterial vaginosis (also do wiff test c KCl) - Trichomoniasis Endocervical - Chlamydia Urethral - Chlamydia
  119. 119. Treatment of infertility • Ovulation Induction – Clomiphene • Selective Oestrogen Receptor Modulator (SERM) – Prevents oestrogen negative feedback so ↑FSH & LH • high rates of twins • Tubal Surgery • Assisted Conception – Intrauterine Insemination (IUI) – In Vitro Fertilisation (IVF) – Intra Cytoplasmic Sperm Injection (ICSI) • NB – lose natural selection in that best swimmers don’t get picked, but no increase in karyotype abnormalities • Support and counselling
  120. 120. Treatment of Male Infertility • Mild  Super Ovulation + IUI • Moderate  IVF • Severe  ICSI
  121. 121. Treatment of PCOS • Weight Loss!!!! • Clomiphene – high rates of twins • Metformin • Gonadotrophins • Ovarian Drilling – Nobody knows why it works!
  122. 122. Birth Control Methods • Failure Rates: Pearl Index (Units – 100 women years) – No contraception (young woman) 80-90% – Male condom 2-15% – POP 0.3 - 4% – COC 0.3% - 2% – Copper IUCD 0.3% - 1% – Injectable 0 – 1% – Implants 0 – 1% – Mirena IUS <0.5% – Steralization (F) 0 – 0.5% – Steralization (M) 0 – 0.05%
  123. 123. Birth Control methods • Natural Family Planning – “Safe Period” of time when not ovulating • Subtract 21days from the shortest cycle = first day of fertile phase. • Subtract 10 days from the longest cycle last day of fertile phase • E.g. for a 23-35 day cycle, Days 2-25 fertile period  – Symptothermal Method • Using temperature, cervix & cervical mucus changes and calendars – Temp – The Basal Body Temperature (BBT) raises under the influence of Progesterone. Therefore BBT raises around ovulation. It stays high for most of the rest of the cycle. – Cervical Mucus – become softer at clearer at ovulation • Failure rate ~2-20 per100 w.years – Lactational Amenorrhoea • Criteria – Baby under 6 months – Fully breast feeding i.e. 6-8 feeds per 24hrs – Amenorrhoea – Pregnancy Risk ~2% – Persona • Personal hormone monitoring system, identifies fertile and infertile phases • Stores info from 6 previous cycles • 93-95% effective • Withdrawal Method (Coitus Interruptus) – Failure rate 4-19 per 100 woman years
  124. 124. Birth Control Methods • Barrier Methods – Male Condoms • Latex – spermicide (Nonoxil 9) coated – can be allergic – Non spermicidal • Polyurethane – avantl – Stronger – Less sensitive to heat and humidity – Not damaged by oil based lubricants – Female Condoms • Polyurethane – stronger & not damaged by oil based lubrication • 17cm long with inner and outer ring • Problems: Prominent, noisey, Penis can be placed between vag wall & femidom  – Diaphragms, Caps & Spermicides • FR – 4-20 per 100 women years • Should be left in for 6 hours after sexual intercourse
  125. 125. Birth Control Methods • Hormonal Methods – Oral Combined – Progesterone Only – Transdermal – Evra patch – Injection – Implant – Mirena – Intrauterine System