Prenatal Screening and Diagnostics

This information is useful for children and adults
pregnant woman
Why Yale Medicine?
  • We offer the latest prenatal screening and diagnostic tests.
  • Our genetic counselors ensure that parents understand each prenatal test and procedure.
  • We provide highly personalized care.

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 Maternal Fetal Medicine Practice. 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. 

By taking biochemical and ultrasound measurements, physicians can identify pregnancies at a serious risk of birth defects. With the results, healthcare providers can calculate specific risks of Down’s syndrome, a genetic disorder that can lead to mild to severe intellectual disability and occurs in about 1 in 800 infants. A test is also possible for Trisomy 18, a severe genetic disorder, as well as spinal birth defects.

Prenatal testing involves both screening tests and diagnostic tests. Screening tests are not diagnostic. They can provide information regarding the risk of a baby having a certain disorder or condition. Only diagnostic tests are definitive and can identify if a baby does have a birth defect.

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.