Comprehensive Genetic Testing Capabilities

Sophisticated genetic tests can provide critical information for certain couples who are trying to make important decisions regarding reproduction and pregnancy management. At its many locations the Center for Maternal-Fetal Health at Jefferson offers a complete range of screening and diagnostic tests for various genetic conditions. Couples can meet with a genetic counselor during pregnancy, or even prior to pregnancy, to assess potential risk factors and to offer reassurance when the chance for a genetic problem is low. Genetic counselors are able to provide accurate information regarding the most up-to-date testing options before and during the pregnancy and to help interpret the significance of genetic test results.

Recently, there have been tremendous breakthroughs in the area of prenatal diagnosis in both the first and second trimesters. Jefferson researchers pioneered  chorionic villus sampling (CVS) - a common test that can provide genetic information about pregnancy in the first trimester. We were also the first in the area to offer First Trimester Screening for Down Syndrome and Trisomy 18 through noninvasive testing.  We offer the more accurate Sequential and Integrated First Trimester Screen as well.  We continue to offer amniocentesis, the first diagnostic tool utilized for prenatal diagnosis of genetic conditions, with great success.  We also have extensive experience in early testing and management of multifetal pregnancies.

Years of experience and a state-of-the-art lab enable our experts to provide the most accurate genetic assessment possible. And, genetic counselors, who are sensitive to all the issues raised by genetic testing, are available Monday through Friday to answer questions, discuss test results, or review options for genetic testing and prenatal diagnosis.