Parental Genetic Testing (1)

1
(No Transcript)
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 mothers 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 mothers blood. Can also
  determine babys 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 mothers 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
Youve 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.3rd Floor, Narayana Netralaya
Building,Narayana Health City,258/A,
Bommasandra, Hosur Road,Bangalore - 560 099,
India T 91 (0)80 67154900 /67154901 Visit us
at https//www.medgenomeclaria.com/
Connect with Us
11
Thank You