Women who turn to Blue Hill Memorial Hospital for prenatal care can now benefit from a state-of-the-art combined ultrasound and laboratory screening for genetic abnormalities in the first trimester of pregnancy. Kristin Petros, BS, RDMS, RVT was recently certified to conduct the ultrasound portion of this test by the Nuchal Translucency Quality Review Committee. “As a mother, I really appreciate the privilege of caring for other women during their pregnancies,” says Petros. 

The imaging portion of this prenatal test can help doctors and midwives assess a baby's risk of having Downs syndrome and some other chromosomal abnormalities as well as major congenital heart problems.  The screening test does not involve radiation, involves no discomfort, and is not invasive.  It does require an ultrasound and typically a blood draw.  An ultrasound uses high-frequency sound waves, to measure a clear (translucent) space in the tissue at the back of a developing baby's neck. Blood is typically tested for the levels of certain hormones. The ultrasound and blood tests together  help  to determine the level of risk. The results take approximately one week and are reported to the healthcare provider who is caring for the mother and baby during pregnancy.

The screening takes place when a woman is between 11 and 14 weeks pregnant. Like other screening tests, it won't give women a diagnosis. But it can assess a baby's risk for certain problems and help an expectant mother decide whether she wants to have additional tests.  One major advantage of the first trimester screening test is that it allows for earlier definitive testing.  When appropriate screenings take place in the first trimester, a definite diagnosis may be possible as early as 15 -16 weeks.  With the usual later screening test, a definite diagnosis frequently occurs between 18 – 22 weeks.

“We recommend specific tests for our patients based on their personal preferences, age, family history, and preexisting medical conditions,” says Kathy Ober, MD of Blue Hill Women’s Health Care.   An experienced obstetrician and gynecologist who also serves as the hospital’s chief medical officer, Ober emphasizes the importance of providing patients with the opportunity to make informed choices.  “It is not our job to tell any mother whether to have a screening test or what to do when tests indicate a higher likelihood of an issue like Downs syndrome.  These are very personal choices.  We can be supportive and help them evaluate the data but they really need to make choices on what they think is best for them, their baby, and other family members.”