Prenatal Exome Sequencing Increases Genetic Anomaly Detection Rate

January 23, 2017
Prenatal Exome Sequencing Increases Genetic Anomaly Detection Rate
Source: NIH

Researchers at Columbia University Medical Center are set to present their recent findings this Thursday in the plenary session at the Society for Maternal-Fetal Medicine's annual meeting, The Pregnancy Meeting™, in which they uncovered that detection rate of genetic findings increased between 10 to 30 percent when fetal genomic sequencing (whole exome or WES) was utilized as a diagnostic test for women with pregnancies complicated by major fetal congenital anomalies. The results from this study will be presented in a presentation entitled “Whole exome sequencing in the evaluation of fetal structural anomalies: A prospective study of sequential patients.”

Over the past several years, prenatal detection of congenital fetal anomalies has become increasingly more frequent, due to the adoption of routine ultrasound imaging. Simultaneously, advanced genetic testing has evolved demonstrating that an increasing proportion of these anomalies have a genetic cause. Approximately ten years ago, chromosomal microarray analysis (CMA) was added to standard karyotyping as a prenatal diagnostic test increasing the detection rate of clinically significant cytogenetic abnormalities by 6% in cases with a single anomaly (abnormality) and 13% when multiple anomalies were present. Meaning, CMA looked at the cell and chromosomal disorders.

These prior studies, including a multi-center National Institutes Child Health and Human Development (NICHD)-funded trial presented at a prior Society of Maternal-Fetal Medicine annual meeting, has changed national guidelines so that CMA is now the recommended test for evaluating fetal anomalies.

While CMA has been a significant improvement, an estimated 60 to 70 percent of cases with identified fetal abnormalities remain without a genetic diagnosis. With this current study, fetal WES was evaluated as a diagnostic test for women with pregnancies complicated by major fetal congenital anomalies.

"Our preliminary data and published literature indicate that sequencing will increase the detection rate of genetic findings and this information will significantly improve patient counseling and neonatal treatment," explained lead presenter Ronald Wapner, M.D., professor of obstetrics and gynecology for the maternal-fetal medicine department at Columbia University Medical Center. "New associations with genes with very specific fetal phenotypes are also beginning to be uncovered."

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