Explore This Treatment Program

Mass General was among New England's first hospitals to offer first-trimester screening for Down syndrome and other chromosomal abnormalities between the 11th and 14th weeks of pregnancy. Our physicians’ research helps continues to pave the way for advances in prenatal diagnostic technology, and we are continually refining our approach.

Because most birth defects occur in low-risk pregnancies, we use a “level 2” structural survey as our standard of care to evaluate fetuses. This approach yields the highest detection rate for potentially serious problems, such as congenital heart disease.  

Advanced Prenatal Screening & Diagnostic Services

Our center considers ultrasound, the least invasive and often most important test, to be the backbone of prenatal diagnosis. In addition to state-of-the-art ultrasound services, we offer a complete range of sophisticated prenatal screening and diagnostic services for all pregnant women, not just those with special circumstances.

The cornerstone of sonographic fetal evaluation is the second trimester structural survey, which is typically performed at about 18 weeks. This “head-to-toe” anatomic evaluation can diagnose—or, more likely, exclude—the presence of structural defects such as spina bifida, hydrocephalus, certain kidney abnormalities, clubbed foot, cleft lip and various types of heart defects.

We also provide screening for high-risk pregnancies and women who are over age 35 or want a second opinion following another test result. In addition to structural surveys, we offer:

  • Early risk assessment (ERA), which screens for Down syndrome and other chromosomal abnormalities in the first trimester of pregnancy
  • Screening and testing for genetic syndromes
  • Chorionic villus sampling (CVS), amniocentesis and other prenatal-diagnosis procedures
  • Specialized ultrasound for fetal growth restriction, suspected fetal anemia, etc.
  • Counseling and education, both before and after tests, is an integral component to our approach. If we detect an abnormality, our clinical specialists work with you to educate you about your baby’s condition and determine the best course of treatment both before and after the baby’s birth.

In addition to working with patients, our physician-scientists are at the forefront of clinical research. For information on participating in research opportunities, please call 617-724-BABY or browse online for open trials.

Specialized Training

Your ultrasound will be performed by a physician with specialized training in prenatal diagnosis. That physician will be able to discuss your ultrasound results immediately after completion and help answer your questions.

We are actively involved in training a new generation of clinicians to be the future leaders in ultrasound diagnosis through our training programs. We are also actively involved in training residents in both radiology and OB/GYN, as well as medical students and occasional visitors to our unit.

Routine & High-Risk Care

About two-thirds of our patients plan to deliver their babies at Mass General and remain under our care throughout their pregnancy.

Other patients, including those at increased risk for having a problematic pregnancy due to age, family history or abnormalities suspected elsewhere, are referred to our center and most often return to their own obstetrician for continuing care.

Emotional Support and Guidance

We understand the fear and uncertainty that comes from a surprising diagnosis. In the rare instances our clinicians identify an abnormality during prenatal diagnosis testing, you will have access to Mass General’s world-class pediatric specialists, genetic counselors and state-of-the-art treatments and testing—all under one roof.

We also have social workers on staff and support groups set up to help you cope with difficult news should it come and make complicated decisions.

Patient Resources

We believe each patient is an important member of her own care team. To support you, we offer education resources such as child birth classes, pregnancy-related information and access to women's health resources.

Chromosomal Disorders

Chromosomal Disorders

Learn about birth defects caused by chromosomal disorders and tests used to identify them.

Structural Defects

Structural Defects

Learn about birth defects caused by structural defects and tests we offer at Mass General.

Genetic Syndromes

Genetic Syndromes

Learn about birth defects caused by genetic syndromes and the tests we use to detect them.