Prenatal Diagnosis

While most women give birth to healthy babies, about 3 percent have a major birth defect. In many cases, these birth defects are caused by a genetic or chromosomal disorder. When an abnormality is diagnosed, this information combined with genetic counseling can help you make important decisions about pregnancy.

The Prenatal Diagnosis Center at UCSF Medical Center and UCSF Children's Hospital provides comprehensive genetic counseling, screening and diagnostic testing for conditions such as:

• Cystic fibrosis
• Down syndrom
• Other disorders such as Canavan disease, fragile X syndrome, sickle cell anemia, Tay Sachs disease and thalassemia

Our patients benefit from our expertise and advanced technology, including nuchal translucency (NT) screening, a new, non-invasive test provided at only a few centers nationwide performed early in pregnancy to identify increased risk for Down syndrome and other birth defects.

Another screening procedure we offer is carrier testing to identify if you or your partner carry a gene for a genetic disease. People who carry genes for these disorders often don't have symptoms. A carrier blood test can determine if you carry an abnormal gene.

While screening tests involve virtually no risk of miscarriage, diagnostic tests have a small risk — generally less than 1 percent risk — of miscarriage but are more accurate. During the past 20 years, we have performed thousands of diagnostic tests for birth defects — more than 40,000 amniocentesis, a test that removes a small amount of amniotic fluid from the womb, and more than 15,000 chorionic villus sampling (CVS) procedures, that test tissue from the placenta via a needle or catheter. Our patients also have the opportunity to participate in our research on new, less invasive methods for screening and diagnosis.

In addition, the UCSF Fetal Cardiovascular Program performs sophisticated imaging as early as the late first trimester to assess and manage fetal and pediatric heart disease .

UCSF also offers a program, called UCSF Twins and More, to help prepare women for multiple births.

For more information about our services or clinics, please call the center at:
Prenatal Diagnosis Center (415) 476-4080

Reviewed by health care specialists at UCSF Children's Hospital.
Last updated March 25, 2008