Evaluation of the effectiveness of next-generation sequencing for detecting genetic abnormalities in fetuses with morphological anomalies at Hanoi Medical University Hospital
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Abstract
The study aims to evaluate the effectiveness of next-generation sequencing (NGS) in detecting genetic abnormalities for fetuses with structural anomaly. From 1/2023 to 12/2023, pregnant women undergoing amniocentesis for prenatal diagnosis at Hanoi Medical University hospital, had amniotic fluid analysis for karyotype, CNV and gene levels. Of the 64 fetuses with structural anomaly, 57 cases (89.1%) utilized NGS for diagnosis. The rates of investigation solely on CNV and both gene and CNV levels were 20.3% and 68.8%, respectively. Four cases were found to have CNV anomalies despite having normal karyotypes, and among the 44 cases that were tested for both CNV and gene levels, 11 were found to have gene mutations. However, one case with an abnormality detected by karyotyping did not show any CNV anomalies. The results indicate that NGS provides a relatively comprehensive screening of genetic anomalies, however, tto avoid missed diagnoses, it is necessary to use a combination of different testing methods.
Article Details
Keywords
Prenatal diagnosis, structural anomaly, next-generation sequencing
References
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