Our center offers comprehensive genetic testing to patients when a prenatal ultrasound has shown fetal structural anomalies – visible physical differences – that could be due to a genetic disorder. Before scheduling any test, our genetic counselors review the options with each patient. Commonly available tests include cell-free DNA screening and chromosomal microarray analysis. Recently, specialists have found that when these tests don't provide a diagnosis, exome sequencing often can. Exome sequencing is one of the most comprehensive genetic tests currently available, and we are pleased to offer this option to eligible women through our Fetal Treatment Center.
Exome sequencing is done at our UCSF laboratory, which allows interpretation of results by our multidisciplinary team and facilitates consultations with patients so that they can learn the meaning of any findings. When a patient's test results are available, she meets with one of our genetic counselors and board-certified perinatal geneticists to go over the results and any implications for decisions on care.
Through the UCSF laboratory, our geneticists and genomic medicine specialists have provided and interpreted exome sequencing for hundreds of pregnant patients with fetal structural anomalies. We have found this comprehensive analysis of thousands of genes to be helpful to both our patients and our subspecialists in determining the best course of care in complex pregnancies. In about one in five cases, we find a gene variant – a genetic difference – that explains the ultrasound findings and helps us provide better counseling on managing the pregnancy, the delivery and the newborn's care. The test results can also help us assess the likelihood that the same condition will affect future pregnancies.
Because of these benefits, we now offer exome sequencing – formerly available only as part of a clinical trial – to all eligible patients as part of our comprehensive package of care. Most cases of fetal physical anomalies are eligible. To cover the test's cost, our team helps obtain insurance authorization or will find other funding sources if insurance coverage is not available.