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Prenatal care is important for a healthy pregnancy. Typically, prenatal visits to clinicians involve health check-ups and counselling at regular intervals along with some prenatal tests. However, in the past decade, advancements in diagnostic technology have greatly improved healthcare providers' ability to monitor and detect potential complications early on and offer timely and appropriate assistance to new parents.One of the most significant advancements in prenatal care in recent years has been the development of Non-Invasive Prenatal Testing (NIPT), a screening test that detects genetic abnormalities in the foetus. These tests provide comprehensive information that allows parents to make decisions regarding their pregnancy, such as seeking more diagnostic testing or planning for the care of a child with special needs. Genetic testing helps parents better plan for their children's health and wellbeing.
Speaking to the HealthSite on Mother's Day 2023, Dr Mokshadayini S., Consultant, MedGenome Labs - Gynaecologist and Obstetrician, elaborates on the importance of NIPT testing for expectant mothers, its role in prenatal care and the latest advancements in genetic testing for maternal health.
Non-invasive prenatal screening test (NIPT) uses advanced bioinformatics technology to check for chromosomal abnormalities in the developing foetus. The test analyses the DNA strands, or cell free DNA (cfDNA), present in the mother's blood and can be helpful in determining chromosomal disorders like Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), or Patau syndrome (trisomy 13).
It is one of the safest and most effective screening procedures which poses no threat to the mother or the foetus, as compared to invasive diagnostic procedures such as amniocentesis or chorionic villus sampling (CVS). NIPT is believed to be 99 per cent more accurate, more sensitive, and capable of detecting chromosomal abnormalities. NIPT tests can be done from the 10th week of pregnancy to delivery.
NIPT testing is recommended by healthcare professionals as it avoids the risk of miscarriages and allows early detection of potential genetic disorders.
The latest advancements in NIPT testing include:
"Much of pregnancy care is about minimizing risk to the foetus. The NIPT prenatal test is an important screening tool used for assessing the genetic risk of a foetal chromosomal abnormality in the first trimester of pregnancy. It's highly recommended when an expecting mother has risk factors for these genetic disorders. During this time, taking help of a genetic counsellor can be extremely helpfulfor families navigating the complex and emotional world of genetics and pregnancy," Dr Mokshadayini concluded.
NIPT testing can help expectant mothers make informed decisions about their pregnancy and reduce unnecessary invasive procedures.
Happy Mother's Day to all the women around the world who have embraced the role of motherhood!
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