
Prenatal trio exome sequencing (ES) has become integrated into the care of pregnant women when the fetus has structural anomalies. Details regarding optimizing indications for prenatal exome sequencing, its detection rates with different categories of fetal abnormalities, and principles of interpretation of pathogenicity of sequence variants are still under investigation. However, there is growing consensus about its benefits for finding the cause of fetal structural anomalies. This report summarises the advantages and disadvantages. More research is needed to explore further GS's clinical utility and ethical aspects for all pregnant women.
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