Value of Fetal Genetic Sequencing Explored
News Jan 25, 2017 | Original story from the Society for Materal-Fetal Medicine
In a study to be presented Thursday, Jan. 26, in the oral plenary session at 8 a.m. PST, at the Society for Maternal-Fetal Medicine’s annual meeting, The Pregnancy Meeting™, researchers with the Columbia University Medical Center in New York found that, in preliminary data, fetal genomic (whole exome) sequencing (WES) as a diagnostic test for women with pregnancies complicated by major fetal congenital anomalies increased the detection rate of genetic findings by between 10 to 30 percent.
The study, titled Whole exome sequencing in the evaluation of fetal structural anomalies: A prospective study of sequential patients used selected patients that were felt to have a high likelihood of having a fetal genetic anomaly.
In recent years, prenatal detection of fetal congenital 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 10 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. In other words, CMA looked at cell and chromosomal disorders. These prior studies, including a multi center Eunice Kennedy Shriver 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 60-70% of cases with identified fetal abnormalities still remain without a genetic diagnosis. With this current study, fetal genomic (whole exome) sequencing 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 Ronald Wapner, M.D., professor of obstetrics and gynecology for the maternal fetal medicine department at Columbia University Medical Center, who is presenting the study. “New associations with genes with very specific fetal phenotypes are also beginning to be uncovered,” he added.
This article has been republished from materials provided by the Society for Maternal-Fetal Medicine. Note: material may have been edited for length and content. For further information, please contact the cited source.
Researchers Discover Mutation That Appears to Protect Against Multiple Aspects of Biological AgingNews
The first genetic mutation that appears to protect against multiple aspects of biological aging in humans has been discovered in an extended family of Old Order Amish living in the vicinity of Berne, Indiana, report Northwestern Medicine scientists.READ MORE
Defects in Cell’s ‘Waste Disposal System’ Linked to Parkinson’sNews
An international study has shed new light on the genetic factors associated with Parkinson’s disease, pointing at a group of lysosomal storage disorder genes as potential major contributors to the onset and progression of this common neurodegenerative disorder.READ MORE
Mouse Model Demonstrates Potential of New Autism DrugNews
Scientists have performed a successful test of a possible new drug in a mouse model of an autism disorder. The candidate drug, largely corrected electrical, behavioral and brain abnormalities in the mice.READ MORE