STUDY | 'Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges'

Dr. Neeta Vora is lead author on this new research on improving prenatal diagnosis.

STUDY | 'Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges' click to enlarge Dr. Neeta Vora

Dr. Neeta Vora, associate professor in the Division of Maternal-Fetal Medicine at UNC OB-GYN, is lead author of the recently published original research article "Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges" in Genetics in Medicine.

Other authors on the study from UNC Maternal-Fetal Medicine are Emily Hardisty, MS, GC, assistant professor; Kelly Gilmore, MS, GC; and Dr. Kim Boggess, professor. Other contributors from UNC School of Medicine include Dr. Anne Lyerly, professor of social medicine and adjunct professor at UNC OB-GYN; Dr. Jonathan Berg, assistant professor of genetics; and Dr. James Evans, Bryson Distinguished Professor of Genetics and Medicine.

Exome sequencing can be done on fetal specimens to identify the genetic cause of structural abnormalities or disease by sequencing the coding regions of the genome, known as the exons. For this study, the research team performed exome sequencing using DNA from 15 fetuses with ultrasound detected abnormalities and their parents. Genetic counselors met with the parents ahead of the testing in order to provide counseling, increase their understanding of the possible results they may receive and go over what those results may mean for their reproductive health and medical health.

The parents were notified of the diagnostic results of the fetus, as well as anything found in the parental DNA that might have medical consequences, as well as if they were carrier couples for significant autosomal recessive conditions. The results of the study showed that the exome sequencing was helpful in making a correct prenatal diagnosis in nearly half of the fetuses where a genetic diagnosis was highly suspected.

"When exome sequencing became available and found its niche in pediatric and adult medicine, I was very interested in trying to determine whether it could improve our ability to make a prenatal diagnosis and help these families understand better what is happening in their pregnancies," said Dr. Vora. She also said that while the tests are useful, more research is needed, and care should be taken when deciding to use exome sequencing on healthy patients.

Dr. Vora is a current UNC BIRCWH scholar and was awarded a grant (starting July 1, 2017) from the National Institute of Child Health and Human Development, one of the National Institutes of Health, to study the use of exome sequencing in the prenatal setting.

Listen to Dr. Vora explain the study in this Genetics in Medicine podcast.

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