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.
Birth Defects
Birth defects are abnormalities that occur in babies which affect how the body looks, works or both. They can be structural or functional in nature.
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‘Fetal genomic sequencing will increase the detection rate of genetic findings and this information will significantly improve patient counseling and neonatal treatment.’
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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.In a study to be presented in the oral plenary
session 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%.
![Antidepressant Use Linked to Congenital Anomalies and Stillbirths]( "Antidepressant Use Linked to Congenital Anomalies and Stillbirths")
Women who took antidepressants in the first trimester of pregnancy were at a small but significantly greater risk of having infants with congenital anomalies.
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.
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, 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.
Source: Eurekalert
Antidepressant Use Linked to Congenital Anomalies and Stillbirths
Women who took antidepressants in the first trimester of pregnancy were at a small but significantly greater risk of having infants with congenital anomalies.
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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.
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, 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.
Source: Eurekalert
BINOCAR Report Says Large Numbers of Congenital Anomalies may be Unreported
The latest annual report released by the British Isles Network of Congenital Anomaly Registers (BINOCAR) reveals that one in 45 babies born in 2010 suffered from a congenital anomaly.
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 New Coronary Congenital Defect Classification Aids Identification of Secondary DefectsA new classification of coronary congenital diseases is set to help surgeons identify secondary defects in the operating theater. | Advertisement
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