At your first ultrasound appointment, usually between weeks 6-8, you can see the first snapshot of your baby visually. A few weeks later, noninvasive prenatal testing (NIPT), which can be done as early as week 10, can give you a better picture of your baby genetically.
What can NIPT reveal about my baby’s genetics?
Many parents may feel that knowing as much as possible, as early as possible, can help them feel better prepared. The results of screening tests can help you and your family plan and discuss options with your healthcare provider, including the need for a diagnostic test to confirm the presence of a genetic condition.
- Down syndrome which is caused by an extra copy of chromosome 21
- Edwards syndrome which is caused by an extra copy of chromosome 18
- Patau syndrome which is caused by an extra copy of chromosome 13
- Sex chromosome conditions which are caused by an extra or missing copy of a sex chromosome (X or Y)
NIPT can also tell you the sex of your baby as early as week 10!
How safe is NIPT?
During pregnancy, some pieces of your baby’s DNA enter your bloodstream from the placenta. NIPT is a simple blood test that looks at a baby’s DNA in their mother’s blood to identify whether the baby is at increased risk of having a genetic disorder. Not only does NIPT itself pose no risk of miscarriage, it leads to 89% fewer invasive tests compared to traditional serum screening.1
Because NIPT is a screening test, not a diagnostic test, it determines the likelihood that your baby has a genetic disorder, but doesn’t confirm whether your baby actually has that disorder. If your NIPT results suggest an increased likelihood of a genetic disorder, you and your provider might discuss diagnostic testing options like amniocentesis and CVS.
How accurate is NIPT?
NIPT is the most accurate prenatal aneuploidy screening test available.2-6 In fact, it has the highest detection rate of all currently available chromosomal screening tests.7-9 NIPT detects 99.7% of cases of Down syndrome.10-13
NIPT is an excellent option if you want a safe and accurate way to learn more about the genetic health of your pregnancy early on. NIPT is an available options for all women, regardless of age or priority risk. NIPT may be right for you if:
- You want more information about whether a genetic condition is present in your pregnancy
- You are concerned about a genetic condition in your baby
- You are unsure if you want invasive diagnostic testing (like amniocentesis or CVS)
- You want the most accurate prenatal aneuploidy screening test for chromosomal conditions
- Your doctor has recommended it for you
It’s a great idea to speak with your healthcare provider about whether NIPT is right for you during this pregnancy. To learn even more about NIPT, tap the link below.
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Noninvasive prenatal testing (NIPT) is a screening test; it is not diagnostic. Results should be confirmed by diagnostic testing prior to making any pregnancy management decisions.
Sources
1 Bianchi DW, Parker RL, Wentworth J, et al. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med. 2014;370(9):799-808.
2 American College of Obstetricians and Gynecologists. Screening for fetal aneuploidy. Practice Bulletin No. 163. Obstet Gynecol. 2016; 127(5):e123-137.
3 Benn P, Borrell A, Chiu RWK, et al. Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis. Prenat Diagn. 2015;35(8):725-734.
4 Gregg AR, Skotko BG, Benkendorf JL, et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2016: doi:10.1038/gim.2016.97.
5 Bianchi DW, Parker RL, Wentworth J, et al. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med. 2014;370(9):799-808.
6 Chudova DI, Sehnert AJ, Bianchi DW. Copy-number variation and false positive prenatal screening results. N Engl J Med. 2016;375(1):97-98.
7 American College of Obstetricians and Gynecologists. Screening for fetal aneuploidy. Practice Bulletin No. 163. Obstet Gynecol. 2016; 127(5):e123-137.
8 Benn P, Borrell A, Chiu RWK, et al. Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis. Prenat Diagn. 2015;35(8):725-734. doi:10.1002/pd.4608.
9 Gregg AR, Skotko BG, Benkendorf JL, et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2016: doi:10.1038/gim.2016.97.
10 American College of Obstetricians and Gynecologists. Screening for fetal aneuploidy. Practice Bulletin No. 163. Obstet Gynecol. 2016; 127(5):e123-137.
11 Benn P, Borrell A, Chiu RWK, et al. Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis. Prenat Diagn. 2015;35(8):725-734. doi:10.1002/pd.4608.
12 Gregg AR, Skotko BG, Benkendorf JL, et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2016: doi:10.1038/gim.2016.97.
13 Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol. 2017;50(3):302-314.
