Carrier Screening checks to see if you and your partner are “carriers” of DNA changes (called variants) that could cause your future child to inherit a genetic condition. We’re all carriers of something, but most of us just don’t know about it. In most cases, being a carrier is harmless. However, if you and your partner are carriers of the same condition, there’s typically a 1-in-4 chance that it could affect your child. Carrier screening can let you know if your future child is at risk—even before you get pregnant.
Carrier screening is for anyone who would like to understand their risk of having a child with a genetic disorder.
It's also recommended for people who:
Once you're pregnant, non-invasive prenatal screening (NIPS), also known as non-invasive prenatal testing, is a test that looks for a handful of chromosomal conditions, including Down syndrome, in the free-floating baby DNA found in mom’s blood. The conditions detected by NIPS are not inherited; instead, they’re caused by abnormal changes to the baby’s chromosomes (the structure that contains your baby’s individual genes). NIPS can also tell you your baby’s sex sooner than an ultrasound—as early as 10 weeks.
While it’s generally recommended for women over 35 or those who are considered high risk, this test is available to anyone who wants this information. In this situation you may be considered at high-risk if:
1 State of Israel Ministry of Health. Recommendations for genetic testing. Published April 22, 2020. Accessed July 7, 2020.
2 Michaelson-Cohen R et al. Israeli Society of Medical Genetics NIPT Committee Opinion 072013: Non-invasive prenatal testing of cell-free DNA in maternal plasma for detection of fetal aneuploidy. Fetal Diagn Ther. 2014;36(3):242-244.
3 State of Israel Ministry of Health. Screening tests for the detection of Down syndrome. Published April 22, 2020. Accessed 7 July 2020.
4 Gregg, A 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;18:1056–1065.