Of course, if you get a positive result, you’ll want to know, “What now?” Genetic counseling is often the first step. Rather, negative means your risk for having a baby with a chromosomal abnormality is low. Similarly, a negative result does not guarantee that your baby does not have an abnormality. It simply suggests the chances are higher than normal. Because both of these methods are screening only, a positive result does not necessarily mean your baby has a chromosomal abnormality. Whether you have NIPT or Integrated Screening, the results will come back as either positive or negative. How do I interpret my screening results, and what happens next? Much like NIPT, insurance coverage for Integrated Screening varies widely. The first is that the abnormalities it looks for are limited - only Down syndrome, Trisomy 18 and open neural tube defects. Like NIPT, there are a couple negatives for Integrated Screening. 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. A measurement that’s thicker than normal can be a marker for Down syndrome. 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. 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 first blood sample, gathered from the mother’s arm, is taken between 11 and 13 weeks of pregnancy. 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. Integrated Screening involves three tests: Two blood draws and an ultrasound. All three companies have genetic counselors available to discuss results. Other options for NIPT include MaterniT 21 and MaterniT GENOME, both through LabCorp, and Harmony. 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. If you choose to participate in NIPT, there are three companies that can analyze the blood sample. You may also be eligible for a self-pay option or a discount if your household income is below a certain amount. Out-of-pocket expenses vary, depending on whether you’ve met your deductible. Insurance plans may not cover NIPT, especially if you don’t have risk factors. The first is that it does not screen for neural tube defects. 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. NIPT can be performed as early as nine weeks of pregnancy and, because it is non-invasive, it carries no risk of miscarriage. Triploidy, which means the baby has a complete extra set of chromosomes for a total of 69 chromosomes, instead of the usual 46 Microdeletions, occur when a chromosome is missing a small piece Sex chromosome abnormalities, which is when there is an extra or missing copy of one of the sex chromosomes Trisomy 13 and Trisomy 18, are rarer than Down syndrome Depending on the type of NIPT and the company analyzing the sample, it can also screen for the following. 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. NIPT analyzes that DNA, which is officially called cell-free DNA or cfDNA for short because it carries the baby’s genetic information. When a woman is pregnant, pieces of DNA from the placenta circulate in the mother’s bloodstream. Still, it’s important to know the pros and cons of both NIPT and Integrated Screening, so you can make an informed decision. 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. You have the option to decline the genetic screening. Two of the screening possibilities are non-invasive prenatal testing (NIPT) and Integrated Screening.īoth 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. 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.
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