Childbirth is a roll of the dice. A genetic gamble. And the stakes couldn’t be higher—life, or at least its quality. In India, chromosomal abnormalities—which can result in conditions ranging from Down to Patau syndrome—occur in 1 in every 166 children conceived. The rate of Down Syndrome, 1 in 800. Odds no parent is comfortable with. Nor should they be. India is home to the largest number of children born with genetic disorders in the world.

Faced with such a predicament, prospective parents are an anxious lot. With 25 million births each year in India, there’s a lot of anxiety to go around.

For a while now, science has allowed parents and doctors to stack the deck in their favour. At least to some extent. Various prenatal screening methods have allowed expecting parents a glimpse of the risks facing their unborn children. A chance to avoid having a child that will endure a compromised quality of life, or at least the opportunity to prepare for the challenges to come.

But these, too, are far from perfect. A trade-off between accuracy and safety. Non-invasive methods such as triple or quadruple screen tests are safe. However, with detection rates of 69% and 81%, respectively, there’s still a decent amount of uncertainty. Then there are the invasive procedures such as chorionic villus sampling (CVS) and amniocentesis. Highly accurate (98-99%), but with grave risks. In CVS, the risk of miscarriage is 1 in 200, while amniocentesis is slightly less risky, with miscarriages occurring in only 1 out of every 1,000 cases. Russian roulette, indeed.

A new generation of testing, however, may provide the succour that so many expecting parents desperately crave.

Non-invasive prenatal test (NIPT), developed in 2011, is the gold standard of prenatal testing. It requires a small amount of blood drawn from the mother’s arm, testing the child’s genes in the mother’s blood. Since it’s non-invasive, the risk of miscarriage plummets to zero. If that wasn’t already proof of its superiority, NIPT diagnoses 85% of all chromosomal abnormalities and has an accuracy of over 99%.

The possibility of false results

The current prenatal screening tests for chromosomal abnormalities like double marker test have false positive rates of 2–7%, while NIPT’s false positive rate is less than 0.1%.

A no-brainer then, right?

Ideally.

NIPT has taken the developed world by storm. They are convinced that it is the prenatal test of the future. First introduced in 2011 in the US, the UK’s National Health Service is going to offer it to about 10,000 women this year who are considered at greater risk of giving birth to a baby with genetic disorders.

AUTHOR

Ruhi Kandhari

Ruhi writes on the impact of healthcare policies, trends in the healthcare sector and developments on the implementation of Electronic Health Records in India. She has an M. Sc. in Development Studies from the London School of Economics.

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