BookmarkBookmarkTick

Geneticists Weigh in on Non-Invasive Prenatal Tests

NIPTs can offer big benefits—but they also have some limitations.
ByAnisa Arsenault
Associate Editor
Updated
Apr 2017
Hero Image

Non-invasive prenatal tests (NIPTs) are advanced screenings for genetic diseases. The key word being screenings. They can tell you that your baby might have a problem, but false alarms are still possible. The confusion about when to get one and whether the touted 99 percent accuracy is true might be what prevented experts from issuing a position statement on NIPTs. But two major groups of human geneticists have finally done so.

The Social Issues Committee of the American Society of Human Genetics (ASHG) and the Public and Professional Policy Committee of the European Society of Human Genetics (ESHG) came together to draft a statement, published in the European Journal of Human Genetics.

While current prenatal screenings vary from country to country, women generally begin with a combined first-trimester screening (cFTS). If any blood or ultrasound markers appear abnormal, they can follow up with an amniocentesis, an invasive diagnostic test that comes with a small risk of miscarriage. Your doctor will stick a needle into your belly, extracting about an ounce of amniotic fluid, which will be tested for chromosomal abnormalities.

The biggest benefit of NIPTs, according to the geneticists, is they have higher detection rates and fewer false alarms than cFTS. Blood tests identify DNA pieces floating outside of cells in a mother’s blood stream and determine if the appropriate number of chromosomes are attached to this cell-free DNA; an extra 21st chromosome could be indicative of Down syndrome.

Writers explain that even if women receive an abnormal result from a NIPT, they should still follow up with a second diagnostic test—an amnio—before considering a termination of the pregnancy. And that’s what ob-gyn Susan Gross, MD, told The Bump when first introducing us to the ins and outs of NIPTs. They’re useful tools, but they’re just screenings. You’ll want a diagnostic test to tell you if something is actually wrong.

Related Video

“Throughout our discussion, we kept in mind that the goal of prenatal screening is to enable autonomous, informed reproductive choices by pregnant women and their partners, not to prevent the birth of children with specific abnormalities,” said Yvonne Bombard, PhD, of the ASHG.

Writers noted that the cost of NIPTs will have to come down if they’re to become more mainstream. But should they become more mainstream? The writers also addressed the superfluous use of screenings, leading to alarm when there may be no problem at all.

“We are excited about the potential of NIPT to produce more accurate results and reduce the need for invasive testing,” said Martina Cornel, MD, PhD, of the ESHG. “However, in view of its future potential, the responsible introduction and expansion of this technology remains an important challenge. In countries where prenatal screening is offered as a public health service, governments and public health authorities should take a more active role in this regard.”

25 slides

The Best Movies to Watch While Pregnant

profile picture of Holly Pevzner
Holly Pevzner
Contributing Writer
black and white image of woman and doctor's hands looking at sonogram

US Birth Rates Hit Their Lowest Level in 35 Years, CDC Reports

profile picture of Nehal Aggarwal
Nehal Aggarwal
Associate Editor
Published
05/21/2020
couple looking away over body of water

CDC: Birth Rates in the US Have Reached an All-Time Low

profile picture of Stephanie Grassullo
Stephanie Grassullo
Associate Editor
Published
08/02/2019
woman in her third trimester of pregnancy

There’s Finally Science to Prove That Pregnant Women Need Their Personal Space

profile picture of Stephanie Grassullo
Stephanie Grassullo
Associate Editor
Published
07/02/2019
mid-section of couple holding hands and walking

CDC: Birth Rates in the US Haven’t Been This Low in More Than Three Decades

profile picture of Stephanie Grassullo
Stephanie Grassullo
Associate Editor
Published
05/15/2019
meghan markle in new york city for her baby shower

Meghan Markle's NYC Baby Shower Stirs Convincing Theories on the Royal Baby's Sex

profile picture of Stephanie Grassullo
Stephanie Grassullo
Associate Editor
Published
02/21/2019
meghan markle's birth location is revealed

The Lindo Wing Is Reportedly Prepping for Meghan Markle's Delivery

profile picture of Stephanie Grassullo
Stephanie Grassullo
Associate Editor
Published
02/01/2019
couple is forced to pack up their stuff and move after having a baby.

Landlord Forces Couple to Move Because They Had a Baby

profile picture of Stephanie Grassullo
Stephanie Grassullo
Associate Editor
Published
01/29/2019
surprised baby's face

There Aren't Enough Babies Being Born in the US, CDC Says

profile picture of Stephanie Grassullo
Stephanie Grassullo
Associate Editor
Published
01/10/2019
Article removed.