September is Newborn Screening Awareness Month. In lieu of this, we at CooperGenomics think it is the perfect time to discuss what it is, why it exists and how it relates to lesser known areas of genetics screening.

In the end, genetics is a game of numbers. While card sharks count cards to give themselves an advantage, both newborn screening (NBS) and expanded carrier screening (ECS) are tools used to help doctors and patients skew the odds of having a healthy child in their favor.

No condition on any NBS panel is particularly common. Death by hang gliding (1 in 560), base jumping (1 in 60), or heart disease (1 in 20) are downright frequent when compared to the chance of having a child with a condition on a NBS panel. So, why do it?

NBS is an essentially harmless test that is typically conducted on a blood sample taken from a baby shortly after birth. The test screens for certain detrimental or potentially fatal disorders that are not otherwise apparent at birth, and for which early detection and treatment can make the difference between lifelong impairment and healthy development. NBS is not a diagnostic test, however, it can lead to definitive follow-up tests.

ECS is, in a way, both a spin-off and a precursor of NBS. Developed after NBS, it is now an option for (soon-to-be) parents before or during pregnancy. Through the use of a blood or saliva sample, ECS looks for changes in a person’s genes that can increase the risk of having a child with a particular genetic disease. According to a Joint Statement of the American College of Medical Genetics and Genomics and National Society of Genetic Counselors, along with several other organizations*, carrier screening for inherited genetic conditions is an important part of preconception and prenatal care. Though, as with NBS, a negative expanded carrier screen cannot eliminate the risk of having an affected child. So again, why do it?

We all carry changes, called mutations, in our genes that, if inherited by our children, can cause genetic disease. ECS can identify couples who carry mutations included in the screen. This information can allow for preimplantation or prenatal diagnosis which in turn can enable couples to make informed decisions regarding a pregnancy, allow doctors to provide better care for a pregnancy, enable couples and their doctors to know what to expect after delivery, and allow couples to plan for postnatal management and treatment.

Be your own health advocate and an advocate for your children’s health. Take time this September to learn more about newborn screening and expanded carrier screening. For a complete list of the conditions screened for by NBS in your state, visit BabysFirstTest.

*American College of Obstetricians and Gynecologists, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine


Shannon Wieloch

Shannon Wieloch is a licensed board-certified genetic counselor at CooperGenomics. Her primary responsibility is to provide genetic counseling to CooperGenomics patients. Other professional roles include managing the genetic content on social media, supervising graduate students, and conducting research.

Prior to joining CooperGenomics, Shannon worked in cardiac research at The Children’s Hospital of Philadelphia and in prenatal genetic counseling at The Delaware Center for Maternal and Fetal Medicine. She received a dual B.S. in biology and psychology from The University of Pittsburgh and her M.S. in genetic counseling from Arcadia University. Her passion is to provide comprehensive genetic education to medical professionals, patients, and the general public. In her free time, she loves to travel, doodle, play board games with her girls, and take too many pictures of her cat.