Prenatal Screening and Diagnostics

This information is useful for children and adults
A pregnant woman who used prenatal screening and diagnosis sits with her older daughter.

Pregnant and expecting mothers have the opportunity to learn a lot about their unborn child's health with today's genetic screening and diagnostic tests. Prenatal genetic testing allows the expectant mother and her health care team to provide the best health care for the baby. At Yale Medicine, prenatal screening and diagnostic tests are completed in a clinical chemistry lab. Scientists and researchers work with doctors caring for expecting mothers to help monitor pregnancies and ensure that mothers and their loved ones are identifying any possible challenges early. 

"One of the important distinctions to make is whether the test is for screening or diagnosis," says Yale Medicine's Katherine Harper Campbell, MD, MPH, medical director of the Yale Medicine's Maternal-Fetal Medicine section. A screening test allows the mother and her care team to know if a baby has a higher risk of developing a condition, Dr. Campbell explains. "A diagnostic test is more invasive and can convey a clear 'yes' or 'no' about a condition or disease a baby has," Dr. Campbell says. 

At Yale Medicine, a team of experts in diverse areas, including ultrasound, fetal care and genetic counseling, work together to provide the highest level of personalized care for all expectant mothers. 

Clinical Trials

New treatments for many conditions are tested in clinical trials, which ultimately bring lifesaving new drugs and devices to the patients who need them most. By participating in a clinical trial, you may get access to the most advanced treatments for your condition, and help determine their benefits for future patients.