When you’ve ever been pregnant and even thought of having a child, you’ve seemingly heard the time period “non-invasive prenatal testing,” or NIPT. Perhaps 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 turn out to be comparatively mainstream in recent times – with tens of millions of pregnant ladies taking such a take a look at yearly – it’s nonetheless comparatively new. Understandably, there are some misconceptions.
Earlier than we dive into what you must find out about NIPT, let’s assessment 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 newborn, known as cfDNA or cell-free DNA, is floating round within the mom’s bloodstream all through being pregnant. By analyzing tiny items of the newborn’s DNA, expectant moms can higher perceive their child’s danger of getting sure genetic circumstances. They’ll 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 focuses on NIPT, listed below are the six issues I imagine everybody ought to find out about NIPT, irrespective of the place they’re of their being pregnant journey:
1. Screening vs. Diagnostic
Earlier than you think about doing NIPT, it’s important to know that NIPT is a screening take a look at. It’s NOT a definitive diagnostic take a look at. This implies the take a look at 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 performed both throughout the being pregnant or after beginning is required to verify the presence of the situation.
Conventional prenatal diagnostic exams reminiscent of 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. For this reason many ladies select non-invasive screening exams, like NIPT, as a primary step. They pose no risk to the newborn and will assist scale back the necessity for invasive procedures.
2. What NIPT Screens For
NIPT is a broadly used screening software 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 consists of genetic circumstances attributable to microdeletions, that are small, lacking components of a chromosome. The commonest of those is the 22q11.2 deletion syndrome (DiGeorge syndrome/VCFS) which was lately discovered to be extra often recognized than beforehand believed. The 22q11.2 deletion syndrome is extra frequent than different circumstances like Cystic Fibrosis or Sickle Cell Anemia that are sometimes screened for throughout being pregnant.
NIPT will be carried out for singleton, twin, egg donors, and surrogate pregnancies. And for these with twins on the way in which, sure NIPTs can decide if the twins are similar or fraternal. Not all NIPTs use the identical know-how, nevertheless. Nor do all of them display screen for a similar circumstances. All the time be sure you analysis the obtainable exams and discuss to your well being care supplier about your wants to assist decide which take a look at is best for you.
3. What Occurs if I Get a Excessive-Threat Outcome?
As a result of NIPT is a screening take a look at, there’s a likelihood of receiving a high-risk end result when the newborn just isn’t affected by a particular genetic situation (generally known as a false optimistic). Genetic counselors strongly advise everybody who receives a high-risk end result to talk with their well being care supplier. If obtainable, a board-certified genetic counselor to assist be sure that they perceive what their outcomes imply and know what the following greatest 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 all the time wanted to know for positive if a high-risk result’s optimistic. It may be performed throughout or after a being pregnant. Figuring out what to anticipate can guarantee you’ve all the data it’s essential 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 enhancing the accuracy and efficiency of NIPT. These are nonetheless screening exams and, due to this fact, 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 higher than 99% accuracy when screening for Down syndrome as indicated in a current examine of over 20,000 sufferers.
5. All Ladies Can Have NIPT
Till lately, it was advisable that solely ladies over 35 years of age have NIPT. Final 12 months, the American Faculty of Obstetricians and Gynecologists (ACOG) and the Society for Maternal-Fetal Drugs (SMFM) launched an up to date follow bulletin on screening for fetal chromosomal abnormalities. It advisable NIPT be provided to all ladies, no matter age or danger components. This was a major step ahead for pregnant ladies that later helped to develop well being care protection and entry to NIPT for all ladies. As a genetic counselor, I encourage all ladies who’re pregnant or planning a being pregnant to debate NIPT with their well being care supplier to see if it’s the proper choice for his or her household.
6. You’re Not Alone in This Course of
NIPT might help reduce the nervousness and uncertainty round being pregnant and their child’s well being for a lot of ladies. However for others, it could be a disturbing expertise, particularly for individuals who obtain a high-risk end result. NIPT just isn’t all the time the most suitable choice for everybody. Deciding to have NIPT screening is a private choice that ought to be made solely after totally contemplating the advantages and limitations of the take a look at.
Everybody has selections, which suggests some ladies will resolve to have an amnio. Different ladies will select to not do NIPT screening or diagnostic testing. When you’re having issue deciding whether or not NIPT is best for you, converse along with your well being care supplier or a board-certified genetic counselor. They might help reply your questions and discuss to you about your choices.
Take a look at some useful sources under for extra details about NIPT and genetic counseling:
