Non Invasive Prenatal Tests (NIPTs)
There are no dangers to the mother or the fetus from these screening tests, but positive screening results are not diagnostic - Andrea Greiner MD
image by: LJ Pregnancy Co
HWN Recommends
To NIPT or Not to NIPT? That Is the Question
There are many conversations had between an expectant mother and her prenatal care provider — for the most part, these are positive in nature and revolve around ensuring the health of both the patient and her unborn child. However, for every positive conversation, there is one a bit heavier in subject matter, one often discussed and debated amongst the medical community, between a woman and her partner, and doctor to patient — the screening and diagnosis of fetal genetic disorders and which course of action be followed.
All parents want the best reassurance for their pregnancy and to protect their unborn to their greatest capability. What is imperative is that a woman understands…
Resources
F.D.A. Warns Patients About Some Prenatal Genetic Tests
The agency warned doctors not to diagnose genetic disorders based on these results alone and stressed the need to follow positive screenings with more reliable “diagnostic” testing. It said it was “aware of reports” that some women “have ended pregnancies based only on the results” of these genetic screening tests.
Prenatal Care May Look Very Different After Coronavirus
The shift from in-person visits to telehealth appointments could be here to stay.
A Womb Without a View
Major birth defects come as a surprise for most parents, but they don’t have to.
The Alarming Inaccuracy of Prenatal Testing
When I was pregnant with my first child, I got an important call from my doctor’s office. I remember very little of the specifics aside from where I was standing (on the sidewalk, outside of a management training seminar I had to do for work), and the dread I felt as the call proceeded. I’d had a prenatal screening, and the medical professional on the other end was telling me that the fetus was at a higher than average risk for one of the disorders they were screening for.
What Kind of Baby Do You Want?
Prenatal testing has offered up a lot more information—but that information comes with serious ethical questions.
Better Prenatal Testing Does Not Mean More Abortion
Between 70 and 85 percent of women in the U.S. confronted with a prenatal diagnosis of Down syndrome choose abortion -- but that number used to be higher.
Breakthroughs in Prenatal Screening
In the nearly four decades since amniocentesis became widely accepted, new techniques have gradually improved the safety and accuracy of prenatal diagnosis. Prenatal tests for more than 800 genetic disorders have been developed. And the number of women who must undergo amniocentesis or C.V.S. has been greatly reduced.
DNA Blood Test Gives Women A New Option For Prenatal Screening
Even though the newer blood tests do look at fetal DNA, they can't give a definitive answer like an amniocentesis can because they're analyzing scraps of fetal DNA in the mother's blood that are all mixed up with her own DNA.
New Genetic Tests for Women Who Are Expecting
A growing array of tests to check if women are carriers for mostly rare diseases.
New Prenatal DNA Test For Down Syndrome Dramatically Reduces Errors
Until recently, the only way to test the genetic makeup of a fetus was through amniocentesis ("amnio"), an invasive procedure in which a doctor inserts a long needle directly into the womb and collects a sample of amniotic fluid. This test is not only uncomfortable, but it also carries a small risk of miscarriage. Fortunately, it may soon become completely unnecessary, thanks in part to advances in DNA sequencing.
Noninvasive Prenatal Testing: The Future Is Now
Invasive prenatal diagnosis (CVS and amniocentesis) is not a feasible option for all low-risk mothers, as these procedures carry a small but finite risk and would ultimately cause more miscarriages than they would detect aneuploidy. For this reason, a number of noninvasive tests have been developed—including first-trimester risk assessment at 11 to 14 weeks, maternal serum analyte (quad) screening at 15 to 20 weeks, and sonographic fetal structural survey at 18 to 22 weeks—all of which are designed to give a woman an adjusted (more accurate) estimate of having an aneuploid fetus using as baseline her a priori age-related risk.
Prenatal Testing: Earlier and More Accurate Than Ever
But if this technology becomes widely available and affordable, the most important impact will be making it safer and easier for parents to know exactly what they're dealing with. If anything, it will provide more time for the ethical deliberations that come later.
This Simple Blood Test Reveals Birth Defects - And the Future of Pregnancy
There’s an option that’s about as accurate as amnio and CVS but as low-risk as a blood draw. Known as cell-free fetal DNA testing...
We Need More Proof That Prenatal Gene Screens Are Beneficial
Blood tests are safer for pregnant women but do not tell the whole truth.
What Fetal Genome Screening Could Mean for Babies and Parents
A noninvasive screening method could provide expectant parents with unprecedented and comprehensive fetal genetic data, but it also presents new ethical quandaries.
You’re Pregnant: How Do You Decide About Prenatal Testing?
The decisions all pregnant women face when offered prenatal genetic testing raise questions that go far beyond neutral medical information. There are no easy or absolute answers to those questions, but every pregnant woman can and should be prepared to make the choices she might face.
Prenatal Genetic Screening Tests
There are two types of prenatal tests for genetic disorders: Prenatal screening tests: These tests can tell you the chances that your fetus has an aneuploidy and a few other disorders. This FAQ focuses on these tests. Prenatal diagnostic tests: These tests can tell you whether your fetus actually has certain disorders. These tests are done on cells from the fetus or placenta obtained through amniocentesis or chorionic villus sampling (CVS). FAQ164 Prenatal Genetic Diagnostic Tests focuses on these tests.
How Much Prenatal Genetic Information Do You Actually Want?
Now that dozens of tests are on the market, patients can scan their unborn children for less serious diseases too. But what will we, as a society, do with that information?
To NIPT or Not to NIPT? That Is the Question
There are many conversations had between an expectant mother and her prenatal care provider — for the most part, these are positive in nature and revolve around ensuring the health of both the patient and her unborn child. However, for every positive conversation, there is one a bit heavier in subject matter, one often discussed and debated amongst the medical community, between a woman and her partner, and doctor to patient — the screening and diagnosis of fetal genetic disorders and which course of action be followed.
NHS
Screening tests are not perfect. Some people will be told that they or their baby are at high risk of having a health problem when in fact they do not have the problem. Also, a few people will be told that they or their baby are at low risk of having a health problem when in fact they do have the problem.
StatPearls
Today, prevention of mortality is not the only goal but also the prevention of morbidity. Prenatal screening helps practitioners understand the physical needs of a gestating mother to prevent both morbidity and mortality.
Introducing Stitches!
Your Path to Meaningful Connections in the World of Health and Medicine
Connect, Collaborate, and Engage!
Coming Soon - Stitches, the innovative chat app from the creators of HWN. Join meaningful conversations on health and medical topics. Share text, images, and videos seamlessly. Connect directly within HWN's topic pages and articles.
