Answering your questions about NIPT Screening.

During your first trimester of pregnancy, you will have the choice to undergo prenatal screening tests that give you information about the genetic health of your developing baby. Two of the screening possibilities are non-invasive prenatal testing (NIPT) and Integrated Screening.

Both the American College of Obstetricians and Gynecologists (ACOG) and the American College of Nurse-Midwives (ACNM) recommend prenatal genetic screening as an option for all pregnant people, regardless of age. You have the option to decline the genetic screening.

If you choose to participate in prenatal genetic screening, you should know that, according to ACOG or ACNM, there is not one single screening or testing method that is superior to others. Still, it’s important to know the pros and cons of both NIPT and Integrated Screening, so you can make an informed decision.

What is NIPT?

When a woman is pregnant, pieces of DNA from the placenta circulate in the mother’s bloodstream. NIPT analyzes that DNA, which is officially called cell-free DNA or cfDNA for short because it carries the baby’s genetic information.

NIPT is done via a blood sample taken from the mother’s arm and tells the likelihood that the baby will have Trisomy 21, also known as Down syndrome, and other chromosomal abnormalities. Depending on the type of NIPT and the company analyzing the sample, it can also screen for the following.

Trisomy 13 and Trisomy 18, are rarer than Down syndrome
Sex chromosome abnormalities, which is when there is an extra or missing copy of one of the sex chromosomes
Microdeletions, occur when a chromosome is missing a small piece
Triploidy, which means the baby has a complete extra set of chromosomes for a total of 69 chromosomes, instead of the usual 46

NIPT can be performed as early as nine weeks of pregnancy and, because it is non-invasive, it carries no risk of miscarriage. A bonus of the screening is that it can determine the sex of your baby, but that is not a medical reason to opt for NIPT.

There are a couple of downsides to NIPT. The first is that it does not screen for neural tube defects. The second is the cost. Insurance plans may not cover NIPT, especially if you don’t have risk factors. Out-of-pocket expenses vary, depending on whether you’ve met your deductible. You may also be eligible for a self-pay option or a discount if your household income is below a certain amount.

If you choose to participate in NIPT, there are three companies that can analyze the blood sample. At Magnolia Birth House, we recommend Panorama through Natera because it is the most comprehensive in the abnormalities it screens for, and it is highly accurate. False positives are very rare.

Other options for NIPT include MaterniT 21 and MaterniT GENOME, both through LabCorp, and Harmony. All three companies have genetic counselors available to discuss results.

All NIPT screening includes bloodwork from the mother.

What is Integrated Screening?

Integrated Screening involves three tests: Two blood draws and an ultrasound. All of the information from the tests is combined, or integrated, to give you information about your developing baby, including the risk for Down Syndrome, Trisomy 18 and open neural tube defects.

The first blood sample, gathered from the mother’s arm, is taken between 11 and 13 weeks of pregnancy. The purpose is to look at the levels of pregnancy-associated plasma protein (PAPP-A), which tend to be lower than normal in pregnancies affected by Down syndrome and Trisomy 18.

The ultrasound also is performed between the 11th and 13th week and measures the fluid-filled space at the back of the baby's neck, which is called the nuchal translucency. A measurement that’s thicker than normal can be a marker for Down syndrome.

The second blood draw ideally happens between 15 and 18 weeks and analyzes the levels of four serum analytes: Alpha-fetoprotein (AFP), total beta-human chorionic gonadotropin (total ß-hCG), unconjugated estriol (uE3), and inhibin-A.

Like NIPT, there are a couple negatives for Integrated Screening. The first is that the abnormalities it looks for are limited — only Down syndrome, Trisomy 18 and open neural tube defects. The second reason is, again, cost. Much like NIPT, insurance coverage for Integrated Screening varies widely.

How do I interpret my screening results, and what happens next?

Whether you have NIPT or Integrated Screening, the results will come back as either positive or negative. Because both of these methods are screening only, a positive result does not necessarily mean your baby has a chromosomal abnormality. It simply suggests the chances are higher than normal.

Similarly, a negative result does not guarantee that your baby does not have an abnormality. Rather, negative means your risk for having a baby with a chromosomal abnormality is low.

Of course, if you get a positive result, you’ll want to know, “What now?” Genetic counseling is often the first step. A second-trimester detailed anatomy ultrasound may also provide more information and is not invasive.

The only way to know for sure if your baby has a chromosomal abnormality is through diagnostic testing. There are two options, chorionic villus sampling and amniocentesis, both of which analyze the baby’s actual genetic material collected from the placenta or amniotic fluid. The risk of miscarriage with either diagnostic test is one in 200.

What if I don’t consent to prenatal genetic screening?

Informed consent is part of the foundation of midwifery care. We want you to know your options and have all the information you need to make an informed decision about your care, including prenatal genetic testing. Both informed consent and informed refusal are OK.

Prenatal genetic screening is never required, and some Magnolia Birth House clients do decline it completely. In that case, you will still receive safe, high-quality care midwifery care at Magnolia. Often times, expectant parents make the choice to refuse genetic testing because they have no known risk factors or because they plan to continue with the pregnancy no matter what, even if the baby has a chromosomal abnormality.

In many cases, the 20-week anatomy ultrasound will detect anomalies with organs and organ function, some of which could be related to genetic abnormalities. At our natural birthing center, we do recommend that all clients opt for that 20-week anatomy ultrasound, but again, it’s not mandatory. The reason for this suggestion is that we do not have the capacity to provide life-saving care for a baby with an organ abnormality. Participating in the anatomy scan often helps families feel more prepared, reassuring them that their baby will be born in the safest place possible.