Diagnostic study demonstrates clinical utility of trio whole exome sequencing in fetuses with ultrasound anomalies, highlighting improved diagnostic accuracy.
The integration of CMA/CNV-seq with trio-WES, alongside prenatal ultrasound scanning, holds the promise of significantly enriching our ability to decipher fetal phenotypes. This tripartite approach stands to revolutionize the diagnostic process, offering a more comprehensive and nuanced understanding of the underlying genetic architecture that underpins prenatal anomalies.
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Zeng et al. (2025) studied this question.
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