Prenatal Diagnostic Center

The UCSF Prenatal Diagnostic Center provides comprehensive counseling, screening and diagnostic testing for fetal disorders. The decision to make use of these services is unique for each woman and her partner. Therefore, we are committed to providing the information and support patients need to make the choices that are right for them.

The Prenatal Diagnostic Center is part of UCSF Women's Health – a nationally designated center of excellence in women's health – and patients are ensured the highest quality care and service. They benefit from the most advanced technologies and procedures. Our practitioners bring a wealth of experience and expertise, having performed more than 40,000 amniocentesis and 17,000 chorionic villus sampling procedures over the last 35 years.

In addition to providing the most advanced testing available, the Prenatal Diagnostic Center is working to develop less invasive methods for the screening and diagnosis of genetic and chromosomal disorders. Research studies are available for women interested in participating.

Our Services

Diagnostic Tests:

• Chorionic villus sampling (CVS)
• Amniocentesis

Screening Tests:

• Sequential integrated screening
• Cell-free DNA screening

Genetic Carrier Screening:

• Cystic fibrosis
• Fragile X
• Ashkenazi Jewish carrier testing
• Spinal Muscular Atrophy

Some genetic disorders are more common in certain ethnic groups. Depending on your family history, ethnicity and heritage, your developing baby may be at risk for one of these genetic conditions:

• Canavan diseaseThis condition is most common in people of Ashkenazi Jewish ancestry, with a carrier incidence of 1 in 40. Canavan disease is a central nervous system disease that is usually fatal in childhood, with a few people surviving to adulthood. Lack of a certain enzyme results in destruction of the central nervous system over time. There is currently no effective treatment.
• Sickle cell diseaseThis condition is most common in people of African American, African, Mediterranean, Hispanic and South American ancestry, with the carrier risk ranging from 1 in 10 to 1 in 40, depending on ethnicity. Sickle cell disease is caused by abnormal hemoglobin that changes the shape of red blood cells. People with the condition suffer from anemia, severe pain, a tendency to develop infections and other serious health problems. Frequent blood transfusions, infection-preventing antibiotics and bone marrow transplants are available treatments. UCSF doctors were the first to develop a prenatal test for sickle cell disease, also called sickle cell anemia.
• Tay-Sachs diseasePeople of Ashkenazi Jewish and French Canadian ancestry have the greatest chance of being carriers of Tay-Sachs disease, about 1 in 30 versus 1 in 250 for the general population. The disease results from the abnormal buildup of certain substances in the brain, and it is fatal in early childhood. There is currently no effective treatment.

• ThalassemiaIndividuals of Mediterranean, Southeast Asian and African ancestry have the greatest chance of being carriers for a group of blood disorders called thalassemia. In general, thalassemia affects a person's ability to produce hemoglobin, the protein in blood that transports oxygen. Children with severe cases may not survive. Others have anemia, bone growth problems and issues with the liver and spleen. Treatment may require blood transfusions. UCSF doctors were the first to develop a prenatal test for thalassemia.

People who carry genes for these disorders may not have symptoms. However, if both parents carry the same abnormal gene, the chance of having an affected child is 1 in 4, or 25 percent, for each pregnancy. A special blood test, called a carrier test, may be able to determine whether you carry such a trait.