1. Prenatal screening and diagnostic techniques allow for the detection of fetal chromosomal abnormalities and genetic disorders. Techniques include first and second trimester screening, cell-free DNA screening, chorionic villus sampling, amniocentesis, and cordocentesis.
2. First trimester screening incorporates factors like maternal age, nuchal translucency, and biochemical markers. Second trimester screening analyzes maternal serum markers. Cell-free DNA screening analyzes fetal DNA in maternal blood. Invasive techniques like CVS and amniocentesis allow for karyotyping.
3. Genetic counseling is recommended to discuss family histories, risk factors, screening results
Lecture on prenatal genetic diagnostic techniques and their value in detection of prenatal genetic anomalies. This lecture details techniques employed in the common diagnostic interventions used in prenatal period and their usefulness.
PGD is a state-of-the-art procedure used in conjunction with In Vitro Fertilization (IVF) in which the embryo is tested for certain conditions prior to being placed in the womb of the woman.
Lecture on prenatal genetic diagnostic techniques and their value in detection of prenatal genetic anomalies. This lecture details techniques employed in the common diagnostic interventions used in prenatal period and their usefulness.
PGD is a state-of-the-art procedure used in conjunction with In Vitro Fertilization (IVF) in which the embryo is tested for certain conditions prior to being placed in the womb of the woman.
THIS PRESENATATION IS FOR THE MEDICAL STUDENTS WHO ALSO HAVE GENETICS AND IF THEY NEED TO GIVE A SEMINAR BASED ON THIS TOPIC THIS PRESENATATION SHALL PROVE USEFUL
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
Prenatal Testing, deteksi kelainan bawaan sejak dalam kandunganHendrik Sutopo
Pengenalan mengenai prenatal diagnosis.
Memberikan gambaran sekilas mengenai cara-cara untuk mengetahui kelainan bawaan sejak janin dalam kandungan.
lebih ditujukan untuk kalangan medis.
Non Invasive Prenatal Testing (NIPT)
THIS PRESENATATION IS FOR THE MEDICAL STUDENTS WHO ALSO HAVE GENETICS AND IF THEY NEED TO GIVE A SEMINAR BASED ON THIS TOPIC THIS PRESENATATION SHALL PROVE USEFUL
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
Prenatal Testing, deteksi kelainan bawaan sejak dalam kandunganHendrik Sutopo
Pengenalan mengenai prenatal diagnosis.
Memberikan gambaran sekilas mengenai cara-cara untuk mengetahui kelainan bawaan sejak janin dalam kandungan.
lebih ditujukan untuk kalangan medis.
Non Invasive Prenatal Testing (NIPT)
Prenatal diagnosis refers to the testing and diagnosis of a fetus during pregnancy. The goal of prenatal diagnosis is to identify any potential genetic or chromosomal abnormalities, structural defects, or other conditions that may affect the health of the fetus or the pregnancy.
There are several types of prenatal diagnostic tests that can be used, including:
Chromosomal analysis: This test can detect chromosomal abnormalities such as Down syndrome, Turner syndrome, and others. The most common method is chorionic villus sampling (CVS) done between 10-12 weeks of pregnancy, and amniocentesis done between 15-20 weeks of pregnancy.
Ultrasound: This is a non-invasive test that uses high-frequency sound waves to create images of the fetus and placenta. It can detect structural defects such as cleft lip, neural tube defects, and other problems.
Cell-free DNA testing: This is a non-invasive test that analyzes small fragments of DNA from the placenta that are present in the mother's blood. It can detect chromosomal abnormalities such as Down syndrome and Trisomy 13, 18, and 21.
Maternal serum screening: This is a blood test that measures certain proteins and hormones in the mother's blood. It can detect certain chromosomal and genetic conditions such as Down syndrome, Trisomy 18 and 13, and neural tube defects.
It's important to note that prenatal diagnosis is a personal decision and should be made after a discussion of the risks, benefits, and limitations of the test with the healthcare provider. The results of prenatal diagnostic testing can have significant emotional, social, and medical implications, and genetic counseling is recommended before and after the test to help families make informed decisions.
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Defecation
Normal defecation begins with movement in the left colon, moving stool toward the anus. When stool reaches the rectum, the distention causes relaxation of the internal sphincter and an awareness of the need to defecate. At the time of defecation, the external sphincter relaxes, and abdominal muscles contract, increasing intrarectal pressure and forcing the stool out
The Valsalva maneuver exerts pressure to expel faeces through a voluntary contraction of the abdominal muscles while maintaining forced expiration against a closed airway. Patients with cardiovascular disease, glaucoma, increased intracranial pressure, or a new surgical wound are at greater risk for cardiac dysrhythmias and elevated blood pressure with the Valsalva maneuver and need to avoid straining to pass the stool.
Normal defecation is painless, resulting in passage of soft, formed stool
CONSTIPATION
Constipation is a symptom, not a disease. Improper diet, reduced fluid intake, lack of exercise, and certain medications can cause constipation. For example, patients receiving opiates for pain after surgery often require a stool softener or laxative to prevent constipation. The signs of constipation include infrequent bowel movements (less than every 3 days), difficulty passing stools, excessive straining, inability to defecate at will, and hard feaces
IMPACTION
Fecal impaction results from unrelieved constipation. It is a collection of hardened feces wedged in the rectum that a person cannot expel. In cases of severe impaction the mass extends up into the sigmoid colon.
DIARRHEA
Diarrhea is an increase in the number of stools and the passage of liquid, unformed feces. It is associated with disorders affecting digestion, absorption, and secretion in the GI tract. Intestinal contents pass through the small and large intestine too quickly to allow for the usual absorption of fluid and nutrients. Irritation within the colon results in increased mucus secretion. As a result, feces become watery, and the patient is unable to control the urge to defecate. Normally an anal bag is safe and effective in long-term treatment of patients with fecal incontinence at home, in hospice, or in the hospital. Fecal incontinence is expensive and a potentially dangerous condition in terms of contamination and risk of skin ulceration
HEMORRHOIDS
Hemorrhoids are dilated, engorged veins in the lining of the rectum. They are either external or internal.
FLATULENCE
As gas accumulates in the lumen of the intestines, the bowel wall stretches and distends (flatulence). It is a common cause of abdominal fullness, pain, and cramping. Normally intestinal gas escapes through the mouth (belching) or the anus (passing of flatus)
FECAL INCONTINENCE
Fecal incontinence is the inability to control passage of feces and gas from the anus. Incontinence harms a patient’s body image
PREPARATION AND GIVING OF LAXATIVESACCORDING TO POTTER AND PERRY,
An enema is the instillation of a solution into the rectum and sig
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There is a movement towards home-based care for the elderly, next generation scanning and MRI devices, wearable technology, artificial intelligence incorporation, and online connectivity. Experts also see a focus on predictive, preventive, personalized, participatory, and precision medicine, with rising levels of integration of home care and technological innovation.
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One of the most developed cities of India, the city of Chennai is the capital of Tamilnadu and many people from different parts of India come here to earn their bread and butter. Being a metropolitan, the city is filled with towering building and beaches but the sad part as with almost every Indian city
Navigating the Health Insurance Market_ Understanding Trends and Options.pdfEnterprise Wired
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2. FIRST TRIMESTER SCREENING
11- 13+6 weeks
CRL of 45- 84mm.
Maternal age
Nuchal translucency
Maternal serum beta hCG
Maternal serum PAPP-A level
Additional ultrasound markers
3. Maternal age
Trisomy 13,18 ,21- ↑ses with maternal age
detection rate ↑ to 75-80%(maternal age+ NT)
Nuchal translucency
maximum thickness of subcutaneous translucent area
between skin and soft tissue overlying fetal spine at the back
of neck.
CRL 38- 84mm
4. NUCHALTRANSLUCENCY
Mid sagittal view
Head in neutral position in
line with spine
Fetal neck skin
differentiated from amnion
by fetal movt
Widest part should be
measured
Callipers should be placed
in inner border of white line
5. BIOCHEMICAL MARKERS IN FIRST TRIMESTER
beta hCG and PAPP-A
Beta hCG MoM
normal 1
Trisomy 21 2
Trisomy 18 0.2
Trisomy 13 0.5
PAPP-A MoM
Normal 1
Trisomy 21 0.5
Trisomy 18 0.2
Trisomy 13 0.3
Beta hCG is lower in women who are HIV positive
6. ADDITIONAL FIRST TRIMESTER ULTRASOUND MARKERS
1. Nasal bone
2. Reversed a wave in ductus venosus
3. Tricuspid regurgitation
4. Wide fronto maxillary fascial angle
7.
8. COMBINED FIRST TRIMESTER SCREENING
NT+ β Hcg +PAPP-A
79-87%
Maternal age affects first trimestic aneuploidy scan
<35years :- 67-75%
>35years :- 90-95%
9. SECOND TRIMESTER SCREENING
Between15 and 21 weeks of gestation
Detailed ultrasound scan
Maternal serum beta hCG
Maternal serum AFP
Maternal serum uE3 level
Maternal serum inhibin A level
10. Beta hCG- peaks at 15 wks→ gradually falls at17-22wks
Trisomy 21- increased in both trimesters
Alpha fetoprotein- produced by liver and gastrointestinal
tract of fetus
- marker of open spina bifida
- Trisomy 21 ↓ by 25%
Free Estriol- Trisomy 21 ↓ by 25%
Inhibin A- ↑ to 1.77 MoM in trisomy 21
11. COMBINED FIRST AND SECOND TRIMESTER
SCREENING
Integrated screening
NT+ serum analytes at 11 to 14 weeks+ quadruple
markers at 15 to 20 weeks
Highest Down syndrome detection rate( 94-96%)
Sequential screening
stepwise sequential screening
contingent sequential screening
12. CELL FREE FETAL DNA SCREENING
Non invasive prenatal screening
Not recommended for multiple gestation
High specificity and sensitivity for trisomy 18 and 21
Doesnot assess risk of fetal anomalies such as neural tube defects
or ventral wall defects
Recommended for women >35 yrs
usg findings of increased risk of aneuploidy
H/O trisomy affected offspring
positive first or second trimester screening result
parent wth balanced robertsonian translocation
ACOG 2015
13. GENETIC COUNSELING
3% of newborns have major congenital anomalies.
Etiologic factors:
1. Chromosomal abnormalities
2. Single gene disorders
3. Polygenic or multifactorial disorders
4. Teratogenic disorders due to exposure of
exogenous factors
14. MATERNAL RISK FACTORS
Maternal age > 35 years
Family history of neural tube defects
Previous baby born with neural tube defect
Previous child with chromosomal anomaly
One or both parents – carriers of sex linked or
autosomal traits
One parent is known to carry a balanced
translocation
History of recurrent miscarriage
16. Uncontrolled diabetes mellitus in the
periconceptional period
Contact with infection
Presence of soft tissue markers
Abnormal maternal serum screening
17. INVASIVE PROCEDURE FOR PRENATAL
DIAGNOSIS
Chorionic villus sampling
Amniocentesis
Cordocentesis or percutaneous umbilical blood
sampling
18. CHORIONIC VILLUS SAMPLING
Diagnosed by italian biologist Giuseppe simoni,
1983
Diagnosis of genetic disorders
3 approaches:
Transcervically-10wks to 13 wks
Transabdominally-10wks to term
Transvaginal(rare)
20. ADVANTAGES OF TRANSCERVICAL
CVS
Genetic diagnosis is achieved at an early
gestational age.
Comfortable to the patient
Technically simple.
21. DISADVANTAGES
High risk of fetal loss than traditional amniocentesis
Chromosome composition & enzyme composition
of the chorionic villus is ocassionally different from
the fetal cells
Difficult if the placenta is above the lower one third
of the uterus
22. CONTRAINDICATIONS
-Positive neisseria gonorrhoea culture of the cervix
-Active genital herpes
-Active bleeding
-Maternal coagulopathy
-Cervical stenosis
-Severe cervicitis
-Uterine myomas
-IUD inside the pregnant uterus.
23. TRANSABDOMINAL CVS
It certainally reduces the potential risk of infection
when compared to vaginal procedure.
Two techniques
-Single needle
-Two needle
25. ADVANTAGES OF TRANSABDOMINAL
CVS
Minimal risk of infection
It does not cause vaginal bleeding
Performed in the second and third trimester.
26. DISADVANTAGES
Amount of tissue obtained is less than that with
transcervical cvs.
Patient discomfort is more.
Difficult to perform if placenta is posterior.
33. Carried out as an op procedure.
Early:11-14 , Late: 14-16
Proper counselling.
USG examination.
34.
35. Main risk factors:
-Rh isoimmunization in Rh negative mothers.
-Infection
36. Other risks:
-Changes with the gestational age
-Preprocedure or concominant use of the USG.
-Size of the needle
-Number of needle insertions
-Characteristics of the amniotic fluid
-Experience & ability of the indivudual performance.
39. PRECAUTIONS
Prior sonographic localisation of placenta is
desirable to prevent bloody tap and fetomaternal
bleeding
Prophylatic administration of 100mg of anti-D
immunoglobulin in Rh-negative nonimmunized
mother.
40. CORDOCENTESIS
Described in 1983 by Fernand Daffos.
Procedure to obtain fetal blood.
INDICATIONS:
-Fetal transmission of toxoplasmosis
-Rapid karyotype of the fetus with anatomic
deformities
-Chromosomal abnormalities
45. CVS
AMNIOCENETESI
S
CORDOCENTESIS
TIME Transcervical 10-
13wks,
Transadominal 10
weeks to term
After 15
weeks(early 12-14
weeks)
18-20 weeks
MATERIALS FOR
STUDY
Trophoblast cells Fetal fibroblasts
Fluid for
biochemical study
Fetal white blood
cells(others-infection
and biochemical study)
KARYOTYPE
RESULT
Direct preparation:
24-48 hrs
Culture: 10-14
days
Culture:3-4weeks 24-48hrs
FETAL LOSS 0.5-1% 0.5% 1-2%
ACCURACY Accurate Highly accurate Highly accurate
TERMINATION OF
PREGNANCY
1st trimester-safe 2nd trimester-risky 2nd trimester-risky
46. HISTORY
Introduced initially in 1990, at
Hammersmith Hospital,
London
By Handyside .
Combines advances in
molecular genetics & ART
47. PGD INDICATIONS
Procedure is offered to couples:
With known genetic disorders
- autosomal recessive
- autosomal dominant
- x linked disorders
- triplet repeat disorders
requesting sex selection for X-
linked disorders
Chromosomal abnormalities
48. PGD INDICATIONS
The procedure has also been offered to couples:
undergoing IVF at risk for aneuploidy
maternal age > 35 years
Prior trisomic conception
with recurrent pregnancy losses
Prior failed IVF cycles (>3 prior embryo transfers
with high quality, morphologically normal embryos)
Requesting PGD for HLA-typing (to allow selection
of embryos that are histocompatible with live
siblings)
Requesting sex selection for “family balancing”
Cancer predisposition syndromes.
49. PRECONCEPTIONAL PRENATAL DIAGNOSTIC
TECHNIQUES ACT(PC PNDT)
Why this act ?
. Prohibition of sex selection
. Detection of genetic abnormalities/
metabolic disorders/ chromosomal
abnormalities/ congenital malformations/ sex
linked disorders
. Prevention of sex determination leading to
female feticide
50. Genetic counseling centre- a gynecologist or a
pediatrician having 6 months experience/ 4wks
experience in genetic counseling/ a medical
geneticists
Genetic laboratory- a medical geneticist/ a lab
technician having 1 yr experience in conducting
prenatal diagnostic procedures
Genetic clinic/ ultrasound clinic
gynecologist having experience of performing at
least 20 procedures
a sonologist/ imaging specialist/ registered
medical practitioner/ medical geneticists
