The Facts About Prenatal Testing (And Why It’s Important)

For those who’ve ever been pregnant and even thought of having a child, you’ve seemingly heard the time period “non-invasive prenatal testing,” or NIPT. Possibly you’ve heard about it from buddies, household, or your OBGYN. Or maybe you’ve examine it on on-line child boards. Although NIPT has grow to be comparatively mainstream in recent times – with hundreds of thousands of pregnant girls taking one of these check yearly – it’s nonetheless comparatively new. Understandably, there are some misconceptions.

Earlier than we dive into what you need to find out about NIPT, let’s overview what NIPT is. Merely put, NIPT can present genetic danger details about your child as early as 9 weeks into being pregnant from a easy maternal blood draw. Genetic data from the child, referred to as cfDNA or cell-free DNA, is floating round within the mom’s bloodstream all through being pregnant. By analyzing tiny items of the child’s DNA, expectant mothers can better understand their child’s danger of getting sure genetic circumstances. They will additionally plan for his or her child’s care and could possibly enhance their child’s well being.

What You Ought to Know About Prenatal Testing

As a genetic counselor who makes a speciality of NIPT, listed here are the six issues I consider everybody ought to find out about NIPT, regardless of the place they’re of their being pregnant journey: 

1. Screening vs. Diagnostic

Earlier than you take into account doing NIPT, it’s important to grasp that NIPT is a screening check. It’s NOT a definitive diagnostic check. This implies the check can let you know whether or not the chance of your child having particular genetic circumstances is excessive or low, however not in case your child has the situation. If the chance is excessive, diagnostic testing finished both through the being pregnant or after beginning is required to substantiate the presence of the situation.

Conventional prenatal diagnostic assessments resembling amniocentesis (amnio) and chorionic villus sampling (CVS) are extremely correct in diagnosing genetic circumstances. Nonetheless, they’re additionally invasive and carry a slight danger for miscarriage. Because of this many ladies select non-invasive screening assessments, like NIPT, as a primary step. They pose no risk to the child and should assist scale back the necessity for invasive procedures.

2. What NIPT Screens For

NIPT is a broadly used screening instrument for chromosomal variations. These variations can embody Down syndrome (Trisomy 21), Trisomy 18 (Edwards syndrome), Trisomy 13 (Patau syndrome), and different genetic circumstances. This additionally contains genetic circumstances brought on by microdeletions, that are small, lacking components of a chromosome. The commonest of those is the 22q11.2 deletion syndrome (DiGeorge syndrome/VCFS) which was recently found to be extra ceaselessly recognized than beforehand believed. The 22q11.2 deletion syndrome is extra frequent than different circumstances like Cystic Fibrosis or Sickle Cell Anemia that are usually screened for throughout being pregnant.

NIPT may be carried out for singleton, twin, egg donors, and surrogate pregnancies. And for these with twins on the way, sure NIPTs can decide if the twins are an identical or fraternal. Not all NIPTs use the identical expertise, nevertheless. Nor do all of them display for a similar circumstances. At all times remember to analysis the accessible assessments and speak to your well being care supplier about your wants to assist decide which check is best for you.

3. What Occurs if I Get a Excessive-Threat Consequence?

As a result of NIPT is a screening check, there’s a probability of receiving a high-risk consequence when the child will not be affected by a selected genetic situation (typically referred to as a false constructive). Genetic counselors strongly advise everybody who receives a high-risk consequence to talk with their well being care supplier. If accessible, a board-certified genetic counselor to assist be certain that they perceive what their outcomes imply and know what the following finest steps are for them.

Genetic counseling could also be provided as a complimentary service relying on the kind of lab that performs the NIPT screening. Confirmatory diagnostic testing is at all times wanted to know for certain if a high-risk result’s constructive. It may be finished throughout or after a being pregnant. Realizing what to anticipate can guarantee you have got the entire data you have to adequately plan for your loved ones’s future.

4. NIPT is a Extremely Dependable Screening Choice

Over the previous decade, scientists and researchers have made nice strides in bettering the accuracy and efficiency of NIPT. These are nonetheless screening assessments and, subsequently, not designed to be 100% correct. However they’re extra correct and efficient than ever earlier than. The accuracy varies based mostly on the lab chosen and the situation being screened for. For instance, NIPTs have been proven to have greater than 99% accuracy when screening for Down syndrome as indicated in a current research of over 20,000 sufferers.

5. All Girls Can Have NIPT

Till lately, it was really useful that solely girls over 35 years of age have NIPT. Final yr, the American School of Obstetricians and Gynecologists (ACOG) and the Society for Maternal-Fetal Drugs (SMFM) launched an updated practice bulletin on screening for fetal chromosomal abnormalities. It really useful NIPT be provided to all girls, no matter age or danger elements. This was a big step ahead for pregnant girls that later helped to increase well being care protection and entry to NIPT for all girls. As a genetic counselor, I encourage all girls who’re pregnant or planning a being pregnant to debate NIPT with their well being care supplier to see if it’s the proper possibility for his or her household.

6. You’re Not Alone in This Course of

NIPT will help reduce the anxiousness and uncertainty round being pregnant and their child’s well being for a lot of girls. However for others, it could be a aggravating expertise, particularly for individuals who obtain a high-risk consequence. NIPT will not be at all times the most suitable choice for everybody. Deciding to have NIPT screening is a private choice that ought to be made solely after absolutely contemplating the advantages and limitations of the check.

Everybody has selections, which implies some girls will resolve to have an amnio. Different girls will select to not do NIPT screening or diagnostic testing. For those who’re having problem deciding whether or not NIPT is best for you, converse along with your well being care supplier or a board-certified genetic counselor. They will help reply your questions and speak to you about your choices.

Try some useful assets under for extra details about NIPT and genetic counseling: