Prenatal Diagnostic Center

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 disease
  This 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 disease
  This 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 disease
  People 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.
• Thalassemia
  Individuals 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.