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Fetal therapy

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Hello everyone
This presentation will give a insight into the recent advances in fetal therapy. Hope it might help you
Thanking you
Dr Ankit gupta
MD Pediatrics
Kims karad

Published in: Health & Medicine
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Fetal therapy

  1. 1. D R AN K I T G U P TA M M D P E D I AT R I C S K I M S , K AR AD FETAL THERAPY
  2. 2.  FETAL THERAPY  A branch of fetal medicine  Focused on the health of the baby even before birth  Includes a series of interventions on the ‘sick’ fetus with the aim of achieving fetal well being  Interventions may be  Medical  Surgical  Team work  Obstetricians, pediatricians, geneticists, endocrinologists and surgeons working together for early diagnosis and management
  3. 3. HIGH RISK PREGNANCIES  Primary selection  Maternal under nutrition  Presence of chronic illness like DM, hypothyroidism and thyrotoxicosis  Bad obstetric history  Rh negative blood group  Secondary selection  Maternal infections, APH, anemia,  Multiple pregnancy  PROM, Poly or Oligohydraminos  Rh isoimmunization, PIH, early onset of labor
  4. 4. MALFORMATION  DEFINITION  A structural defect in the body due to abnormal embryonic or fetal development  For ex – cleft lip and cleft palate  Zygote  Fertilization of sperm and ova  Embryo  Upto 8 weeks of gestation  Fetus  9th week till birth
  5. 5. PATTRENS OF MALFORMATION  SYNDROME  Group of anomalies due to single or similar etiologies. For ex – Down syndrome due to trisomy 21  Associations  Clusters of malformations that occur together . For ex VACTERL association  Disruption  Extrinsic event during normal development. For ex – amputation of digits or limbs  Deformation  Physical force act upon previously formed structure. For ex – club feet
  6. 6. IDENTIFICATION OF ANAMOLIES  Early diagnosis may reduce the birth of abnormal babies  Hope in future to achieve normal growth with the aid of genetic engineering  Fetus with life threatening defects are managed with therapeutic abortion
  7. 7.  Prerequisites for prenatal diagnosis and termination of pregnancy  Treatment of disorder not available or expensive  Termination of pregnancy acceptable to couples  Risk of genetic disorder higher than the diagnostic procedure ( Trisomies, neural tube defects )  Accurate prenatal diagnostic tests available
  8. 8. ULTRASONOGRAPHY  Non invasive non-ionozing method  Replaced radiographic techniques for antenatal diagnosis and assessment and fetal maturity, growth and malformations  Pregnancy can be diagnosed and timed accurately before the appearance of a positive conventional pregnancy test  Fetal sex can be identified as early as 8-10 weeks
  9. 9.  ADVANTAGES  Widely available and no known adverse effects  Newer techniques, including high resolution multiplanar imaging, 3D imaging, and doppler imaging have improve its yield  DISADVANTAGES  Poor images with an engaged fetal or oligohydraminos  Success is operator dependent
  10. 10. FETOSCOPY  Fetoscopy  Endoscopic procedure during pregnancy to allow access to the fetus, the amniotic cavity, the umbilical cord, and the fetal side of the placenta  Fetoscopy allows medical interventions such as a biopsy or a laser occlusion of abnormal blood vessels or the treatment of spina bifida
  11. 11. ASSESSMENT OF FETAL WELL BEING  FETAL ACTIVITY RECORD  Simple method  Counting the no. of movements or ‘quickening’ made by baby during third trimester of pregnancy  NON STRESS MONITORING  Simultaneous record of FHR, uterine contractions and fetal movements provide useful information  Fetus is considered ‘reactive’ and without distress if  Demonstrate acceleration of heart beats by 15 or more for 15 sec in association with fetal movements at least twice in a 20 minute period  For demonstration of fetal hypoxia
  12. 12.  OXYTOCIN CHALLENGE TEST (OCT)  Useful test to assess integrity of uteroplacental unit  Uterine contractions are induced with oxytocin and their effects on fetal heart rate is monitored  Positive OCT indicative of fetal hypoxia  Negative OCT indicator of adequacy of utero-placental unit  If OCT shows permanent late deceleration, baby should be delivered if L/S ratio indicates fetal maturity
  13. 13.  FETAL BIOPHYSICAL PROFILE  Most accurate and non-invasive method to assess fetal well being and assessed by real time USG  Based on five parameters as shown in table  Acc to score interventions are taken  Score 8 - 10 – Normal fetus  Score 6 – Indicative of chronic asphyxia  Score 4 – Compromised fetus  Score 0-2 – Severe degree of chronic asphyxia
  14. 14. MANNING SCORE VARIABLE NORMAL ABNORMAL Posture Flexed Extended Fetal breathing movements At least 1 episode of FBM of at least 30 sec duration in 30 min Absent FBM or < 30 sec Gross body movements At least 3 body/limb movements in 30 min 2 or less Reactive FHR At least 2 episodes of FHR acceleration of 15 bpm of at least 15 sec duration in a period of 30 min Less than 2 episodes Amniotic fluid volume At least 1 pocket of AF measuring 1 cm or more No AF pocket or < 1 cm
  15. 15.  DOPPLER VELOCIMETRY STUDIES  Reliable to assess the adequacy of utero-placental circulation to fetus  Normal flow is from mother to fetus  Absence of umbilical artery end diastolic flow (AEDF) or reversal of umbilical artery end diastolic flow (REDF) are ominous  FETAL SCALP BLOOD SAMPLING  Good correlation between fetal scalp pH of 7.15 and severe birth asphyxia at birth  If scalp pH less than 7.10, baby should be delivered
  16. 16. BIOCHEMICAL SCREENING  ALPHA-FETO PROTEIN( AFP )  Glycoprotein produced by yolk sac and fetal liver during second month  Peak levels achieved around 14 weeks of gestation and then production wanes off gradually
  17. 17.  MATERNAL SERUM ALPHA-FETO PROTEIN (MSAFP)  A useful non invasive test to monitor high risk pregnancies  Fetal AFP transferred to mother through placenta and amniotic membranes  Median level around 25ng/ml at 16 weeks and incerases till 30 weeks  Maintained for next 5-6 weeks and then falls rapidly  Optimum time for screening is 16-20 weeks of gestation  If high or low should be repeated with USG to confirm diagnosis
  18. 18.  Elevated MSFAP  Fetal causes  Open neural tube defects: anencephaly, open meningomyelocele  Multiple pregnancy  Missed or threatened abortion or fetal death  Fetal infections  Turner syndrome  Extrophy bladder  Exomphalos and gastrochisis  Underestimated gestation
  19. 19.  Maternal causes  Below average maternal weight  Low MSAFP levels  Fetal autosomal aneuploidy (Down syndrome, trisomy 18)  Molar pregnancy  Diabetes mellitus  Over estimated gestation  Above average maternal weight
  20. 20.  HUMAN CHORIONIC GONADOTROPHIN  Produced during pregnancy and helps in maintenance of corpus luteum  Initially produced by trophoblast, later by placental synchitiotrophoblast  During Normal pregnancy  Increase in hCG levels till 8th week followed by gradual decline  In Molar pregnancy  Continue to rise beyond 8th week  Also elevated in Down’s syndrome
  21. 21.  UNCONJUGATED ESTRIOL (UE3)  Produced by fetal adrenal gland is handled by placenta and conjugated by fetal liver  Lower in pregnancies with Down’s syndrome  TRIPLE TEST  Evaluation of three maternal serum factors namely AFP, hCG and UE3 for evaluation for Down’s syndrome  In Down’s syndrome  AFP and UE3 decreased  hCG levels increased
  22. 22. TRIPLE TEST DISOREDRS MSAFP UE3 Beta hCG INHIBIN A Open NTD Increased No change No change No change Down’s syndrome Decreased Decreased Increased Increased Trisomy 18 Decreased Decreased No change No change
  23. 23. PRENATAL CYTOGENETICS  Chromosomal aneuploidies and chromosomal abnormalities (deletion, translocation) can be diagnosed prenatally  Indications are  Advanced maternal age  Previous child with aneuploidy  Parental chromosomal abnormalities  Fetal abnormalities detected on USG Cells used are  Chorionic villus sampling (CVS)
  24. 24.  Amniocytes obtained by amniocentesis  Fetal blood by cordocentesis  Result is available  Within 72 hours with CVS and cordocentesis  2 to 3 weeks with amniotic fluid
  25. 25. AMNIOCENTESIS  Diagnostic  Detection of chromosomal abnormalities.  Downs syndrome  Trisomy 18, 13.  Inborn errors of metabolism.  Sex linked disorder – Turners, klinefelters, fragile x syndrome.  NTD – by AFAFP levels  Fetal lung maturity by measuring ratio of Lecithin and sphingomycelin in later pregnancy.  Spectrometric analysis of AF determination of degree of fetal hemolysis in Rh neg mother.  Therapeutic  Decompression of polyhydroamnios.
  26. 26. •STEPS OF AMNIOCENTESIS- 1. Under all aseptic precautions a 20 or 22-G needle is used, under USG guidance needle is inserted in two rapid steps. 2. Once in amniotic cavity fluid is aspirated 1st ml of fluid is discarded because of possible contamination. 3. Total of 20ml of fluid is aspirated and used for fetal karyotyping and for AFP levels. 4. At end of procedure puncture site is observed with help of USG for any bleeding and fetal cardiac activity is documented at end of procedure. 5. Bloody tap is discarded as it overestimate the AFP levels
  27. 27. CHORIONIC VILLUS SAMPLING  CVS, a biopsy of the developing placenta is performed at 10 to 13 weeks of gestation for indications similar to Amniocentesis.  Advantages over Amniocentesis are  Performed earlier in gestation.  Early diagnosis and patient can have option of 1st trimester abortion. (more safer then 2nd trimester.)  Two commonly used approaches  1) Transcervical  2) Transabdominal.  Sample consist of placental tissue (~20 mg).
  28. 28. CORDOCENTESIS  Direct fetal blood is obtained from the umblical vessel with USG guidance  Diagnostic tests  Direct karyotyping  DNA studies  Diagnosis of hematologic problems. For ex – thalassemia, hemophillia  Diagnosis of fetal infections  Complications may be fetal loss, preterm labor, chorioamnionitis
  29. 29. PROCEDURES FOR ANTENATAL DIAGNOSIS PROCEDURE TIMING RISKS INDICATIONS CVS 9-12 weeks (transcervical) >12 weeks (transabdominal) Fetal loss 3-5%, feto-maternal hemorrhage and limb defects Molecular, cytogenetic and biochemical studies Amniocentesis 16-18 weeks Fetal loss 0.5-1%, feto-maternal hemorrhage and respiratory problems Molecular, cytogenetic and biochemical studies Cordocentesis > 18 weeks Fetal loss 1-5% Hematological, infections and cytogenetic studies
  30. 30. MATERNAL MEDICATION  Developing fetus is immature both structurally and functionally  Drug safe for mother may be harmful and damaging to fetus  Women are exposed to various potential reproductive toxins without being aware of as  Occupational, environmental and household chemicals e.g. solvents, pesticides, and hair products
  31. 31.  Timing of intake of drugs have the most influence on the effect  For instance ‘Periconceptional period’ is most vulnerable as women do not realize they are pregnant until they miss the period  So, married woman should avoid unnecessary medications two weeks preceding menstruation  During first trimester results in miscarriage or congenital malformations  During later period effects mostly neonate rather than the fetus
  32. 32.  Effect of drug may be evident even during later life  For eg diethylstilbestrol resulted in adenocarcinoma in the female offspring during 2nd or 3rd decade of life  Therefore pediatrician should always be alert to recognize and manage a baby who show effects of in-utero medication
  33. 33. TERATOGENS  Any agent that can disturb the development of an embryo or fetus  May include radiation, maternal infections, chemicals and drugs  Teratogens are usually discovered after an increased prevalence of a particular birth defect  Harm depends on a range of factors including:  the type of drug  the size of the dose  how often it’s taken  the stage of fetal development (gestational age) at the time of drug exposure
  34. 34. HUMAN TERATOGENS DRUGS FETAL EFFECT RETINOIC ACID CNS DEFECTS, VSD, ASD, TOF LITHIUM EBSTEIN ANAMOLY PROPYLTHIOURACIL HYPOTHYRODISM WARFARIN SKELETAL ANAMOLIES, NASAL HYPLASIA ALCOHOL FETAL ALCOHOL SYNDROME THALIODOMIDE LIMB REDUCTION DEFECTS VALPROIC ACID NEURAL TUBE DEFECTS PHENYTOIN DYSMORPHIC FEATURES, CLEFT LIP AND PALATE MISOPROSTOL LIMB MALFORMATIONS METHOTREXATE GROWTH RESTRICTION, SYNDACTYLY, SKELETAL DEFECTS
  35. 35. MATERNAL CONDITIONS FETAL EFFECT DIABETES NEURAL TUBE DEFECTS, SACRAL AGENESIS, CHD, RENAL ANAMOLIES SYSTEMIC LUPUS ERYTHEMATOSUS CARDIAC CONDUCTION ABNORMALITIES MATERNAL PHENYKETONURIA MICROCEPHALY MYSTHENIA GRAVIS NEONATAL MYSTHENIA EXPOSURE TYPE FETAL EFFECT RADIATION MISCARRIAGE PROLONGED HEAT EXPOSURE MICROCEPHALY SMOKING GROWTH RESTRICTION LEAD LOW BIRTH WEIGHT MERCURY CNS ANAMOLIES
  36. 36. INFECTIONS FETAL EFFECT CYTOMEGALOVIRUS MICROCEPHALY, CHORIORETINITIS TOXOPLASMOSIS HYDROCEPHALUS, CHORIORETINITIS, VISUAL IMPAIRMENT RUBELLA CATRACTS, MICRO-OPTHALMIA, GLAUCOMA, CHORIORETINITIS, CHD SYPHILLIS MENIGIOENCEPHALITIS, SNUFFLES, PERIOSTITIS
  37. 37. RADIATION  Large doses of radiation (20-50 rad) may cause  Fetal death ( 3rd to 4th post conception week )  Microcephaly, severe mental retardation, and growth retardation ( 4th to 15th week )  Higher incidence of leukemia and cancer to the children born  Women may be unaware of the hazard she is exposed to at the time of conception. So it is recommended  Radiological studies restricted to 2 weeks post-menstruation period  No pelvic X–ray during first trimester
  38. 38.  X-ray(0.1 rad) and CT scan(5 rad) should be avoided as much possible  Available data suggest no harmful effect on fetus of diagnostic MRI or USG
  39. 39. FETAL THERAPY  MEDICAL  LUNG MATURITY INDUCTION  INFECTIONS  Rh ISOIMMUNIZATION  THROMBOCYTOPENIA  CAH  THYROID DISORDERS  NEURAL TUBE DEFECTS  FETAL HEMATOPOIETIC STEM CELL TRANSPLANTATION  FETAL ARRUTHMIAS, SUPRAVENTRICULAR TEACHYCARDIA AND CONGENTIAL COMPLETE HEART BLOCK
  40. 40.  SURGICAL  OBSTRUCTIVE UROPATHY  HYDROCEPHALUS  TWIN TO TWIN TRANSFUSION  CONGENITAL DIAPHRAGMATIC HERNIA
  41. 41. MEDICAL  ACCELERATION OF FETAL MATURATION  HYALINE MEMBRANE DISEASE (HMD) OR RESPIRATORY DISTRESS SYNDROME (RDS)  Commonest cause of neonatal mortality in preterm babies  Lack of surfactant due to immaturity of lungs is main abnormality  Pulmonary maturity assesed by results of Lecithin/Spingomyelin ratio or Phosphatidyl glycerol  When induction of premature labor unavoidable,  Betamethasone 12mg IM OD for 2 doses  Dexamethasone 6 mg IM BD for 4 doses  Betamethasone preffered, and should be given 24hours to 7 days before delievery
  42. 42. FETAL INFECTIONS  EARLY ONSET GROUP B STREPTOCOCCAL INFECTIONS (GBS)  Rare in INDIA compared to WEST  Early infections leads to respiratory distress indistinguishable from HMD while late cause meningitis  Predisposing factors  Prolonged rupture of membrane  Peripatal febrile maternal illness  Prematurity  Intrapartum prophylaxis with antibitoics is administered
  43. 43. DIFFERENCE BETWEEN RDS AND GBS CRITERIA HYALINE MEMBRANE DISEASE GROUP B STREPTOCCOCAL INFECTION PROM > 12 HOURS RARE COMMON PERIPATAL FEBRILE ILNESS RARE COMMON GESTATIONAL MATURITY INVARIABLY PRETERM MOSTLY PRETERM ONSET FIRST 6 HOURS ALWAYS AFTER 3 HOURS COURSE OF ILLNESS VARIABLE SHORT AND FULMINANT XRAY CHEST GROUND GLASS INCREASED LUNG MARKING GASTRIC ASPIRATE NORMAL POLYMORPHS
  44. 44. RDS vs GBS
  45. 45. TORCH  STANDS FOR  T for Toxoplasmosis  O for others (syphillis, gonococcal ophthalmia, malaria, tuberculosis, varicella, hepatitis B, parvovirus B19, HIV)  R for Rubella  C for Cytomegalovirus  H for Herpes simplex  Acronym have become obsolete, VERTICALLY TRANSMITTED INFECTIONS
  46. 46. CLINICAL FINDINGS IN TORCH INFECTION IUGR HEPATOSPLE NOMEGALY AND JAUNDICE OPHTHALMIC NEUROLOGI CAL AND OTHERS CYTOMEGA LOVIRUS 60-70% TWO-THIRD COTTAGE CHESSE WITH KETCHUP TYPE OF CHORIORETI NITIS MICROCEP HALY, PERIVENTRI CULAR CALCIFICATI ON RUBELLA 60-70% 50-60% JAUNDICE UNCOMMON CATARACTS, MICROOPHT HALMIA, SALT AND PEPPER TYPE OF CHORIORETI NITIS MENINGOE NCEPHALITI S, CHD NAMELY – PDA, PULMONAR Y STENOSIS
  47. 47. INFECTION IUGR HEPATOSP LENOMEG ALY AND JAUNDICE OPHTHALMIC NEUROLOGI CAL AND OTHERS TOXOPLASM OSIS 20-30% 40-50% CENTRAL DESTRUCTIVE CHORIORETINI TTIS HYDROCEPH ALY, CEREBRAL CALCIFICATI ON SYPHILIS UNCOMMON 30-40% KERATITIS SNUFFLES, PERIOSTITIS, CHINDRITIS, DEAFNESS
  48. 48. SCREENING  Widespread practice of one time screening of pregnant women for TORCH infection  But routine screening not recommended as  Difficult to differentiate between primary and reinfection  Sensitivity and specificity of tests of doubtful value  Created unncessary confusion , NOT COST EFFECTIVE  So only mother showing symptoms of any disease should be screened  If any evidence of active infection, USG and cordocentesis to confirm fetal diagnosis
  49. 49. DIAGNOSIS  To screen pregnant women and newborns for antibodies to the infectious diseases  Results are either positive or negative  Presence of IgM antibodies indicate current infection  In mother  IgM – CURRENT INFECTION  IgG – PAST INFECTION  In baby  IgM – ACTIVE INFECTION  IgG – PASSIVE TRANSFER OF ANTIBODIES FROM MOTHER
  50. 50.  If IgM positive in baby active infection present  If IgG positive in baby titre to be compared with mothers titre ( 10 fold rise )  Also increasing IgG titre in baby suggestive of active infection
  51. 51. PREVENTION  TOXOPLASMOSIS  Spiramycin 2gm/day throughout pregnancy  After 20 weeks add sulfadiazine and pyrimethamine  Folinic acid 5mg twice a week along with pyrimethamine  CYTOMEGALOVIRUS  Avoidance of unnecessary blood transfusions and use of CMV negative or leukocyte depleted blood  Avoid use of donor breast milk  HERPES SIMPLEX  10 days course of acyclovir  In genital herpes, elective cesarean section
  52. 52.  Mother to be treated with appropriate therapeutic agents  Family needs to be counseled and option for MTP if fetus severely affected
  53. 53.  VERTICAL TRANSMISSON OF HIV  25 – 35% risk of mother to child transmission (MTCT) of HIV during perinatal period  30% occur during pregnancy while 70% during labor and delivery  Through breast milk – 10 – 15%  Risk can be reduced to < 2% by  Prophylaxis given to mother during pregnancy and labor  To infant during first week of life  Elective cesarean delivery  Complete avoidance of breast feeding
  54. 54.  Breastfeeding  Important modality of transmission of HIV infection  Controversial whether to be given or not  Factors that increase the risk of transmission  Detectable levels of HIV in breast milk  Presence of mastitis  Low maternal CD4+ T cell count  Exclusive breast feeding rather than mixed feeding  Current UN recommendation  If replacement feeding is acceptable, feasible, affordable, sustainable, and safe, (AFASS) breastfeed to be avoided  ‘Early and abrupt’ cessation of breastfeeding
  55. 55. NEURAL TUBE DEFECTS  Most common congenital malformation affecting the brain and spinal cord  Due to failure of closure of neural tube  Predisposing factors  Folic acid deficiency  Antiepileptic drugs (valproate)  Folic acid antagonists  Maternal fever and irradiation  Recurrence rate  If one pregnancy affected – 2-3%  If two pregnancy affected – 10%
  56. 56.  DIAGNOSIS INVESTIGATION FINDINGS MATERNAL SERUM RAISED AFP AMNIOTIC FLUID RAISED AFP AND ACETYL CHOLINESTERASE USG TRANSVAGINAL TRANSABDOMINAL SKULL VESSEL ABSENT IN ANCEPHALY SPINA BIFIDA – SPLAYING OF SPINE EVIDENCES OF HYDROCEPHALUS, LEMON SIGN, BANANA SIGN AND LOWER LIMB DEFECTS CHROMOSOMAL STUDIES IF NTD ASSOCIATED WITH CHROMOSOMAL DISORDER
  57. 57.  Prevention  Folate 0.4mg daily in normal pregnancy  Folate 4mg daily in high risk or previously NTD affected pregnancy  Fortification of staple foods with folic acid
  58. 58. RHESUS ISO-IMMUNIZATION  ANTI-D IMMUNOGLOBULIN  Destroy the Rh positive RBC of the fetus which seeps into the maternal circulation before they initiate the antibody-antigen response and prevent the sensitization  All unsensitized Rh negative mother should receive prophylactic injection of anti – D when  After birth of each Rh positive baby  After abortion of Rh positive conception  Situations with increased risk of feto-maternal hemorrhage  Injection of anti-D immunoglobulin(300mcg) should be given within 72 hours of delivery
  59. 59.  Occasional failures may occur due to  Prior sensitization  Feto-maternal leak in early pregnancy  Large amount of hemorrhage
  60. 60.  IMMUNE HYDROPS  Hemolytic disease of the fetus  Condition of fetal anemia caused by Rh isoimmunization  Antibody screen – to detect presence and titer of maternal antibodies  Serial amniocentesis for measurement of bilirubin or serial codocentesis for direct measurement of hemotocrit, reticulocyte count and bilirubin are done  Intrauterine blood transfusion  Intraperitoneal or intravascular  Intravascular by codocentesis have replaced intraperitoneal transfusion
  61. 61.  Combination achieves a more stable Hct and delays time for next transfusion  Aim of transfusion to raise hematocrit to 45-50%  Hct falls at rate of approx. 1% per day so repeated transfusion requires every 15-20 days till pulmonary maturity or gestational age of 35 weeks  O negative, CMV negative allogenic or maternal blood tested for infection, washed, packed, filtered, irradiated with 2500 Gy and then transfused  Baby born with adult O negative blood
  62. 62. INTRA UTERINE BLOOD TRANSFUSION
  63. 63. CONGENITAL ADRENAL HYPERPLASIA  Congenital adrenal hyperplasia(CAH) is a family disorder caused by reduced activity of enzymes required for cortisol biosynthesis in the adrenal cortex  The most common defect is 21-hydroxylase(21-OH) deficiency , which accounts for >90% of all cases of CAH  Clinical consequences of 21-OH deficiency arise primarily from over production and accumulation of precursors proximal to the blocked enzymatic step  These precursors are shunted into the androgen biosynthesis pathway, producing virilization in the female fetus or infant and rapid postnatal growth with accelerated skeletal maturation, precocious puberty, and short adult stature in both males and females
  64. 64.  Following birth of a child with CAH, subsequent pregnancy should be monitored by CVS at 8-9 weeks  If fetus affected  Mother should receive oral dexamethasone 1 mg daily throughout pregnancy to prevent musculization of female fetus  Therapy to be continued if fetus is to be found to be female, otherwise stopped
  65. 65. THROMBOCYTOPENIA  Mothers with active ITP should receive corticosteroid therapy during last 2 weeks of pregnancy  In iso-immune type of fetal thrombocytopenia ( as evidenced by platelet antigen PLA and history of previous sibling affected)  Transfusion of maternal platelets and immunoglobulin through the umbilical vessels by cordocentesis  If cordocentesis not feasible  High doses of iv IVIG 1gm/kg to the mother can prevent fetal thrombocytopenia
  66. 66. SYSTEMIC LUPUS ERYTHOMATOSUS  If mother is suffering from SLE, then fetus is at risk to develop Complete heart block because of damage to AV node.  This can be prevented by giving Tab Dexamethasone 4mg per day during pregnancy because it cannot be metabolized by placenta and is available to the fetus in an active form.
  67. 67. DIABETES MELLITUS  Commonest endocrinal disorder during pregnancy  Duration and severity of maternal diabetes and quality of its control determine the outcome of the offspring  Infant of diabetic mother  Macrosomia  Susceptible to birth injuries  Metabolic imbalance  Greater risk to develop HMD  Polycythemia  Increased incidence of congenital malformations
  68. 68.  Management  Diabetes to be effectively controlled with insulin  Oral hypoglycemic agents contraindicated due to risk of teratogenesis and intractable hypoglycemia in newborn  Strict maintenance of normoglycemia significantly reduce neonatal morbidity and mortality  Pulmonary maturity to be assessed  L/S ratio > 3.5 and SPC > 1000 mcg/dl  Large baby to be delivered by CS
  69. 69. THYROID DISORDERS  MATERNAL HYPOTHYROIDISM  Associated with early fetal deaths  Placental transfer of thyroid blocking immunoglobulin may cause fetal hypothyroidism  Can be prevented by increasing dose of thyroxine to mother  MATERNAL THYROTOXICOSIS  High doses of anti thyroid drugs during later pregnancy may cause fetal goiter and hypothyroidism because they readily cross placental barrier  Propylthiouracil drug of choice due to reduced passage across placenta and excretion in the breast milk  After initial stabilization with anti thyroid drugs, sub-total thyroidectomy is the treatment of choice
  70. 70. STEM CELL TRANSPLANTATION  Hematopoietic stem cell (HSC) transplantation an attractive theoretical option  No graft versus host disease  Prior to 14 weeks, bone marrow has not developed sites for hematopoiesis  Thymic processing of self antigens not started  Foreign HSC should engraft without inducing an immune rejection  Bone marrow can be transplanted postnatally from same donor
  71. 71.  DISADVANTAGES  Fetal and maternal risk  Technical expertise  Expense  Diseases amenable  Sickle cell disease and thalassemias  Immune deficiency diseases  Inborn errors of metabolism
  72. 72. SUPRAVENTRICULAR TACHYCARDIA  Must be treated if  Are sustained and associated with hydrops  Impending congestive heart failure  Maternal treatment started after 12-24 hours of fetal cardiac monitoring  Digoxin is the first line drug  Determination of electrolyte, BUN, and creatinine prior to digoxin loading  Propranolol, procainamide and quinidine have also been used
  73. 73. COMPLETE HEART BLOCK  Prevalence:1/15,000-1/22,000 live birth  HR > 55/min with normal LV function  Rx Dexamethasone-orally to mother  •HR < 55/min with abnormal LV function  Rx Dexamethasone-orally with β agonist  Weekly follow up by obstetrician with fetal echocardiography
  74. 74. SURGICAL  Three approaches  Ultrasonography guided  Inadequate function, migration, iatrogenic gastrochisis  Fetoscopic techniques  Risk of bleeding, rupture of membranes and chorioamnionitis  Open fetal surgery  Chorioamnionitis, bleeding, direct trauma
  75. 75. OBSTRUCTIVE UROPATHY  Fetoscopic techniques can be used for fulguration of posterior urethral valve, placement of vesicoamniotic shunts, and vesicostomy  In severely affected fetus with bladder neck obstruction  Marsupialization of the urinary bladder with vesicoamniotic shunt have been performed with variable results  In cases with oligohydraminos, outcome poor due to hypoplastic lungs  Open surgery have a high mortality rate of 45%
  76. 76. HYDROCEPHALUS  Ventriculoamniotic shunts  Used for decompression of obstructive hydrocephalus have had poor outcome  Thus their use not indicated  Fetal surgical procedure  Both open and endoscopic, have been used to repair myelomenigocele in utero  Open procedure is performed at 24-30 weeks and is shown  To reduce both hindbrain herniation and  Requirement of shunt posnatally
  77. 77. DIAPHRAGMATIC HERNIA (CDH)  Intrauterine therapy indicated in fetuses with poor prognosis  Those with liver in the chest  Those with a low lung to head ratio (<1.0) on USG  Current fetal surgery is tracheal occlusion  Causes enlargement of the lungs and pushing abdominal viscera into the abdomen  Trachea occluded by external metal clips  Survival rate of 33% compared to 10% with conventional postnatal therapy
  78. 78. TWIN TO TWIN TRANSFUSION  May lead to syndrome of acardia due to large arterial anastmoses  Umbilical cord ligation is done in the acardiac twin  Other procedures  Serial amniocentesis to reduce polyhydraminos  Occlusion of vascular anastomosis by YAG laser photocoagulation
  79. 79. GENE THERAPY  Means replacement of missing gene by introduction of foreign  In most gene therapy a normal gene is inserted into genome to replace an abnormal, disease causing gene.  A carrier molecule called a vector (virus-lentivirus) must be used to deliver the therapeutic gene to the patient’s target cells  Research shows that gene transfer to the developing fetus targets rapidly expanding populations of stem cells, which are inaccessible after birth, and indicates that the use of integrating vector systems results in permanent gene transfer
  80. 80.  For clinicians and parents, fetal gene therapy would give a third choice following prenatal diagnosis of inherited disease, where termination of pregnancy or acceptance of an affected child are currently the only options  MAY BE HELPFUL IN  HEMOPHILLIA B  ALPHA THALESSEMIA

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