This PPT gives you clear idea about Parental Genetic Testing and various screening options

2. Parental Genetic Testing
SHOULD YOU GET TESTED?

3. What is Prenatal Genetic Testing?
• Screens for genetic mutations which could result in a birth defect
• Includes screening and diagnostic tests
• Gives insight into the health of your baby before he or she is born
• Tests are optional but are usually recommended by most doctors

4. Screening vs Diagnostic Testing
• Screening tests identify the risks of your baby being born with a birth
defect
• Normally offered during first or second trimester
• Includes blood tests and ultrasounds
• Cannot make a definitive diagnosis
• Diagnostic tests are performed when a screening test detects a
potential problem
• More invasive than screening tests
• Carry slight risk for miscarriage
• Include CVS or amniocenteses

5. Who is offered prenatal genetic testing?
• Most doctors will recommend all pregnant women get screening
tests
• It is especially recommended for:
• Mother or father with a family history, or another child, with genetic disorders
• Couples concerned about how their lifestyle will affect their baby
• Couples related genetically, such as first cousins or close blood relatives

6. Screening Test Options
• NIPT – Also known as a non invasive prenatal test, NIPT screens the
mother’s blood for potential problems as early as 9 weeks of
gestation
• Quad Screen – Completed during second trimester to measure levels
of four substances found in your blood
• Prenatal cell-free DNA screen – Examines the fetus’ DNA found in the
mother’s blood. Can also determine baby’s blood type and gender

7. Diagnostic Screening Options
• CVS – also known as a chorionic villus sampling, CVS diagnosis birth
defects and is usually performed in the first trimester by taking a
sample of the mother’s placenta. Women who get a CVS have a
slightly elevated risk of miscarrying.
• Amniocentesis – performed in the second trimester to diagnosis
chromosomal abnormalities and genetic conditions. A sample of the
amniotic fluid is taken and examined.This test also increases your
chance of miscarriage.

8. Common Disorders Found Through Prenatal
Genetic Testing
• Down syndrome
• Trisomy 13
• Spina bifida
• Anencephaly
• Cystic fibrosis
• Sickle cell anemia

9. You’ve Got Your Results – Now What?
• Results for most tests will be available within a couple of weeks
• Prenatal genetic testing give you more time to prepare for any
potential health problems your baby may face after birth
• A genetic counselor can help you better understand your results and
the options available for you and your family
• A counselor may also recommend additional testing to diagnosis
what a screening test found

10. For more Details :
Contact Us:
Medgenome Labs Pvt. Ltd.
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Narayana Health City,
#258/A, Bommasandra, Hosur Road,
Bangalore - 560 099, IndiaT: +91 (0)80 67154900 /67154901
Visit us at : https://www.medgenomeclaria.com/
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