Screening and Diagnostic Testing for Genetic Disorders

Although most babies are born healthy, parents-to-be often worry about the possibility that their baby will be born with a medical condition or physical disability. A birth defect is a physical problem or intellectual disability that is present at birth, although some birth defects may not be noticed until the child is older. About 3 in 100 babies in the United States are born with a major birth defect

Genetic Disorders

FAQ094, April 2017

What are genes? A gene is a small piece of hereditary material called DNA that controls some aspect of a person’s physical makeup or a process in the body. Genes come in pairs.

Carrier Screening

FAQ179, April 2017

Pregnancy What is carrier screening? What is a carrier? What are the chances of having a child with a genetic disorder? How is carrier screening done? When can carrier screening be done? Do I have to have carrier screening? What carrier screening tests are available? Who should have carrier screening? What is targeted carrier screening? What is expanded carrier screening? Is one approach better than the other? What choices do I have if my partner and I are carriers of a genetic disorder? How accurate is carrier screening? Are results...

Prenatal Genetic Testing Chart (Infographic)

PFSI010 ››› Weeks 1–4 Weeks 5–8 Weeks 9–12 Weeks 13–16 Weeks 17–20 Weeks 21–24 • Timing: 10–13 weeks • Blood test plus NT ultrasound exam • Screens for Down • syndrome and trisomy 18 First-trimester screening Second-trimester screening (“quad screen”) • Timing: 15–22 weeks • Blood test • Screens for Down syndrome, trisomy 13, trisomy 18, and NTDs Standard ultrasound exam • Timing: 18–22 weeks • Screens for some physical defects Integrated screening and sequential screening • Timing: 10–22 weeks • Combines first-trimester and second-trimester screening test results in vari...

Zika Virus and Pregnancy (Infographic)

PFSI011 Mosquito Bite Prevention If you must travel to one of the areas where Zika virus is spreading, strictly follow these four steps to prevent mosquito bites:  Use EPA-registered bug spray with DEET, picaridin, IR3535, oil of lemon eucalyptus, paramenthane-diol, or 2-undecanone. Used as directed, these sprays are safe for pregnant and breastfeeding women.  Wear long-sleeved shirts and long pants.  Treat clothing and gear with permethrin or buy permethrin-treated items.  Stay in air-conditioned or screened-in areas during the day and at night. Follow these steps at all ...

These Tests Could Save Your Baby's Life: Newborn Screening Tests

PFS006, December 2014

Why does my baby need newborn screening tests? Although most babies are healthy when they are born, every U.S. state requires that newborn screening tests be performed on all babies to identify those that may look healthy but have a rare and serious health problem. If problems are found early, treatment can help prevent serious medical problems or death.