By Dr. Gauri Agrawal, Founder-Director, Genestrings Diagnostic Centre & Seeds of Innocence
One of life’s greatest joys is having a child. There are, however, some genetic diseases that you or your spouse may carry and pass on to your unborn or newborn child. This invariably sets in motion a lifelong chain of events involving treatment and the resulting psychological distress. However, scientific advances in the field of reproductive genetics have reduced that possibility to near zero. The testing, known as Non Invasive Prenatal Screening aids in the identification of up to autosomal aneupolidies and sex chromosome aneuploidies including microdeletion of genetic defects in the foetus. The Non-Invasive Prenatal Test (NIPT) examines the genetic information contained in this DNA to look for a variety of anomalies. The test has a high sensitivity to Down syndrome (lifelong intellectual disability in the child). With this test, expecting parents can be confident that their child will be born free of genetic diseases.
In August, 2020, the American College of Obstetricians and Gynecologists (ACOG) and the Society for Maternal-Fetal Medicine (SMFM) suggested that non-invasive prenatal testing be made available to all pregnant women, regardless of their age or risk status. Its accuracy for detecting common trisomies has vastly increased since its commercial introduction ten years ago, and it has now established a standard of treatment in many nations throughout the world.
Researchers are now investigating how NIPT can be expanded to detect more mutations, and efforts are being made to combine testing for foetal abnormalities with the search for biomarkers of maternal health that could indicate if a woman is at risk of developing pregnancy complications such as pre-eclampsia (a pregnancy complication characterised by high blood pressure and signs of organ damage, most commonly the liver and kidneys.)
Who should opt for NIPT?
This test is generally suggested for women who, based on their age, personal or medical history, or family history, are at a high risk of having a child with Down Syndrome or other genetic abnormalities such as Edwards Syndrome (a genetic condition in babies that causes severe disability), Patau Syndrome (multiple and complex organ defects in the baby) and Turner Syndrome (medical and developmental issues, such as short stature, failure of the ovaries to develop, and heart defects in the child.)
Women who become pregnant later in life, such as at the age of 30-35, have a considerably higher risk of having a child with Down syndrome or other genetic disorders. This one-time screening technique is designed to be safe for both the mother and the unborn, with no scarring or invasion. Under the expert care of doctors, there is no invasion of the uterus or the foetus.
The Way Forward
NIPT should be done on all pregnant ladies between the ages of 22 and 50, regardless of risk, in order to identify pregnancies with an increased risk of a chromosome abnormality in the foetus. Fertility centres that have their own in-house lab facility reduce the risk of sample mishandling by removing logistics and raising the likelihood of efficacy and accuracy through state-of-the-art equipment. Labs offering NIPT should provide quick turnaround time at affordable costs, and post-diagnosis proper consulting by trained doctors should be there.
