To make an appointment, refer a patient, or get more information about fetal exome sequencing, contact our Fetal Treatment Center. 

 

Fetal exome sequencing is part of the next generation of genetic testing available for women with complicated pregnancies. This promising new test allows UCSF doctors and researchers to examine and analyze the gene regions that code for proteins. Known as the exome, these regions comprise just 2 percent of the entire genome but play a critical role. That is because proteins form the building blocks of cells.

Focusing on the exome is less expensive than sequencing the entire genome and more efficient than tests that look at genes one at a time. Specialists at UCSF Benioff Children's Hospitals are using exome sequencing to diagnose fetal abnormalities, uncover genetic causes of fetal complications and develop novel therapies.

Our Fetal Treatment Center is one of the few clinics in the nation to offer this kind of genetic testing. Test results are reviewed by our team of experts from many medical specialties, so patients receive the most comprehensive information about any complications they may be facing.

Benefits

The following are some of the possible advantages for patients who choose exome sequencing:

  • Thousands of genes can be analyzed at the same time, rather than testing one or a few genes at a time.
  • Exome sequencing may allow doctors to identify or rule out specific treatments for a diagnosis (although the test results don't always produce actionable findings).
  • Results can provide information about the chance of the same condition affecting another pregnancy and increase the accuracy of prenatal diagnosis in the future.

Eligibility

Pregnant women may be candidates for exome sequencing if they meet the following criteria:

  • A fetal ultrasound identified one or more structural abnormalities in a major organ system.
  • Prenatal testing through amniocentesis or chorionic villus sampling did not identify the abnormality's cause.
  • At least one biological parent is available to provide a DNA sample (via blood or saliva) to complete the exome sequencing test.