Do You Know Your Baby’s Genetic Health?

Pregnancy is an exciting time that comes with many questions. Fortunately, noninvasive prenatal testing (NIPT) exists and can provide insights about the genetic health of your baby.

NIPT is a simple blood test done as early as 10 weeks of pregnancy and screens for certain chromosomal conditions including Down syndrome, Edwards syndrome, Patau syndrome and sex chromosome conditions.

As a screening test, NIPT will help determine if your baby is likely to have one of these conditions, but it will not give a definite answer. Diagnostic tests such as amniocentesis or chorionic villus sampling provide a “yes” or “no” answer but come with a small risk for miscarriage. The American College of Obstetricians and Gynecologists recommends that all women be offered screening or testing for chromosomal conditions during pregnancy.

Your doctor may still offer other screening options, like first trimester or sequential screening. NIPT screens for more chromosomal conditions than other screening options, as well as offers the highest detection rate and lowest false positive rate for Down syndrome. Most women will receive NIPT results that are reassuring. In the case of a positive result, your doctor will discuss further testing options to consider. You should not make any permanent decisions about your pregnancy based on a screening test alone, as there is a chance that the results may not be correct.

Patty Taneja, Senior Genetic Counselor, Illumina

The first days after the arrival of a new baby are a whirlwind of emotions and activity. With so many plans and decisions to make, it can feel like a blur. But making sure your baby receives newborn screening is an important decision that can help protect them from unseen health threats after leaving the hospital and for years to come.

Better to know

“Newborn screenings can detect a variety of genetic disorders that are usually hidden at birth but can cause devastating problems once the baby has left the hospital,” says Sarah Wilkerson, Vice President of the Save Babies Through Screening Foundation. Many of these issues are preventable if babies receive treatment early enough.

“A child can look and act perfectly healthy, and you’d never know so much is going on beneath the surface,” Wilkerson explains. “We know early intervention and treatment are key to staving off some terrible outcomes, including long-term disabilities or even death.”

Depending on the state, babies are screened for roughly 30 to 50 genetic disorders. The minimally invasive test involves collecting a few drops of blood from the baby’s heel between 24 to 48 hours after birth.

Overcome your anxiety

While the fear of the unknown can cause parents to hesitate about giving consent for the screening, Wilkerson implores them to advocate for their babies by making sure it’s conducted, either by a nurse in the hospital or a midwife after a home birth. “It’s critical that every baby go through the full gamut of this test,” she says. “It can paint a whole picture on the overall health of your infant.”

If nothing is found on the test, parents typically won’t hear anything back from their doctors. But because issues ranging from delays in reporting to false positives can sometimes occur, Wilkerson suggests asking the baby’s pediatrician to confirm it came back and if there were any areas of concern.

“Parents should educate themselves on the tests that are run on their babies after birth so they understand what’s happening when it’s happening and can follow up on results,” she says. “That information can be life-saving.”