If there is one thing every expectant mother wants, it is peace of mind. Doylestown Hospital now offers a new genetic screening that provides early answers about a baby’s risk for birth defects.

“Even though most babies are born healthy, it’s natural for an expectant mother to worry about birth defects, especially if she is over 35 or has a family history,” says Andrea Hall, RNC, Prenatal Testing Coordinator at Doylestown Hospital. “We offer genetic counseling and testing to all prenatal patients so they can make the most informed choices.”

The Prenatal Testing Center at Doylestown Hospital was one of the first facilities in the area to offer nuchal translucency (NT), a first-trimester screening for birth defects.

“The prenatal Nuchal Translucency safely screens for Down syndrome and other birth defects early in a pregnancy,” says Richard Latta, MD, a perinatologist on staff at Doylestown Hospital. “NT is a screening and not an invasive diagnostic test such as amniocentesis.”

What is Nuchal Translucency?
Nuchal translucency is a combined ultrasound and two-part blood test initiated between 11 weeks and 13 weeks, 6 days. The ultrasound measures fluid under the skin at the back of the fetus’s neck. All babies have (nuchal translucency) fluid at this stage of development, but those with Down syndrome or other chromosomal abnormalities have more.

“We always recommend that this screening be combined with a two-part blood test, one in the first trimester and another in the second,” says Ms. Hall. “This provides the highest level of accuracy, about 92 percent for Down syndrome.”

If the first NT screen shows an increased risk for birth defects, the expectant mother is advised to talk to her physician about diagnostic testing. If not, she is advised to get a second blood test for a final screening result.

Who Should Consider Genetic Testing?
Any woman who is concerned about her risk for birth defects will benefit by talking to a genetic counselor. This especially includes those who are over 35 years of age, have had two or more previous miscarriages or have a family or personal history of an inherited disorder.