Article

Trio exome sequencing as the stand-alone first-tier testing for prenatal diagnosis

2025-07-23

Abstract excerpt

<h4>BACKGROUND</h4> Whole exome sequencing (WES) is increasingly utilized in prenatal diagnosis of fetus with structural abnormality. However, evidence supporting its use as a first-tier genetic test for all pregnancies referred for invasive prenatal procedures remains limited. <h4>METHODS</h4> We conducted a multi-center prospective study enrolling 1,382 pregnancies from seven prenatal diagnosis centers all aro...

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Literature Corpus work: 48076c41-a915-511c-8b1e-165590c57040
DOI: 10.1101/2025.07.23.25331964

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