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Genetic Testing and Genetic Counseling in Kolkata

What is genetic testing and counselling?

Prenatal genetic screening tests are nowadays commonly suggested by all pregnancy doctors (Obstetricians) to look for genetic abnormalities in the fetus, if any. Our doctors at IFM suggest the expecting mothers undergo this painless test to check early genetic disorders within the fetus. This is a simple process where blood samples are taken from the pregnant mother, and ultrasound examinations are done. Our team of doctors generally suggests undergoing the NT scan (nuchal scan) and NIPT test (Non-invasive screening for down syndrome) as a part of genetic testing in Kolkata. 

What to expect during genetic counselling?

Fetal medicine experts and genetic counsellors at IFM will record the genetic history of the patient’s family on both sides and provide advice on the following matters.

  • Assessment of genetic issues in family history
  • Expert advice on non-invasive tests that should be conducted
  • Emotional counselling for pregnant mothers detected genetic problems in the unborn fetus.
  • Complete and comprehensive family counselling to overcome the negative thoughts related to genetic disorders.
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Why is genetic testing and counselling necessary?

Genetic testing is necessary to early detect genetic problems that might be persisting in your unborn child. There’s always a chance of reoccurrence of past family health problems. These tests will mentally prepare you for the type of precautions and treatments you should be using after your child’s birth.

Our experienced fetal medicine specialists point out the following reasons that make genetic testing necessary during pregnancy.

  • It helps in the detection of abnormalities of the brain and spinal cord in the fetus.
  • It also helps to check any defects in the facial structure, abdomen, and unborn child’s heart.
  • It helps to detect whether the mother is a carrier of genetic disorders like Thalassemia, Sickle cell disease, Spinal muscular atrophy, Duchenne muscular dystrophy, Fragile X syndrome, Down syndrome or other chromosomal disorders.

What is NIPT, and how does it help?

NIPT( Non Invasive Prenatal Test ) is not a compulsory test during pregnancy. NIPT is done as a screening test for Down syndrome ( Trisomy 21 ). It usually takes 2 weeks for the report to come. There is, however, 3% – 5 % possibility that the report may not come due to low fetal fraction. It is important to know that NIPT is not a 100% confirmatory test for Down syndrome.It is therefore advisable not to do NIPT in patients who are already at high risk of Down syndrome. For them CVS or Amniocentesis is advisable.

NIPT provides 99% sensitivity for prediction of Down syndrome. Bioinformatics technology is used to evaluate the DNA structure of the unborn fetus from blood sample taken from the expectant mother.

Pregnant women, irrespective of their genetic family history, may undergo this test to get primary screening done to see whether there is high risk of having Down syndrome in the unborn child.