Baystate Medical Center Offers New First Timester Screening Program

SPRINGFIELD – Baystate Medical Center is the only hospital in Western Mass. certified to offer all pregnant women a First Trimester Screening Program to determine if they are at an elevated risk for delivering a child with certain chromosomal defects such as Down syndrome.

“Parents do not usually want to wait until 15-22 weeks in the second trimester for the quad screen test to learn if their baby is at risk for chromosomal or other medical problems,” said Dr. Fadi Bsat, director of the Perinatal Diagnostic Center at Baystate Medical Center.

“With detection rates even better than the second trimester quad screening test, the first trimester screen is an excellent choice for pregnant patients who will be able to understand their risks earlier than ever before,” he added.

According to Bsat, the first trimester screen offered between 11-13 weeks of pregnancy, and which involves a simple blood stick test and an ultrasound, is becoming a standard test offered to all pregnant women as an alternative to the second trimester quad screen. He set out to establish the First Trimester Screening Program at Baystate Medical Center in 2002 after reviewing positive study findings on the accuracy of the first trimester screen.

Bsat noted a vital step to establishing Baystate’s program was ensuring the staff are continuously certified by the Fetal Medicine Foundation and the Maternal Fetal Medicine Foundation to perform the highly detailed ultrasound measurements that are critical to determining the risk of chromosomal abnormalities. Abnormal measurements are also associated with congenital heart defects, and other pregnancy complications.

“There are some misconceptions that this test is only for high-risk patients,” said Dr. Glenn Markenson, chief of Maternal-Fetal Medicine at Baystate Medical Center. “The first trimester screen is ideal for patients not previously assumed to be at an elevated risk. Certain patients, such as those over 35 or with certain medical histories, are already assumed to be at an elevated risk. This test provides an earlier opportunity to capture the low-risk population and identify if an increased risk is actually present.”

Screening tests provide doctors and genetic counselors with information to make an assessment of the probability that a genetic abnormality may exist, predisposing the baby to a birth defect. After receiving their results, patients discuss the findings with their physician, and those at an elevated risk are referred for genetic counseling, and are offered diagnostic tests such as chorionic villus sampling (CVS) or amniocenteses. For some patients, a fetal echocardiogram or closer monitoring of the pregnancy may be suggested.

“While screening tests may show they are at an increased risk, that does not mean the fetus actually has a certain condition,” said Dr. Gabriel Cohn, chief of Clinical and Reproductive Genetics at Baystate. “The only way to know with near absolute certainty is to perform a diagnostic test.”

Baystate Medical Center is the only hospital in Western Mass. to offer the diagnostic CVS test, which involves taking a tiny biopsy from the placenta and is better than 99{06cf2b9696b159f874511d23dbc893eb1ac83014175ed30550cfff22781411e5} accurate at diagnosing chromosomal abnormalities.

“Nowhere else in Western Mass. can patients go to one place to have the first trimester screen performed, as well as to receive genetic counseling and have diagnostic tests available this early in pregnancy,” said Bsat. “It is important to note that these tests are optional and the final decision for screening and diagnostic testing during pregnancy lies with the mother and her partner.”

The First Trimester Screening Program is improving both the accuracy and timing of information patients receive on potential chromosomal abnormalities, said Dr. Ronald Burkman, chairman of the Department of Obstetrics and Gynecology at Baystate Medical Center. “We are pleased to provide them with access to trained, certified staff and a comprehensive range of services not available elsewhere in the region.”