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Article

Application of family whole-exome sequencing for prenatal diagnosis—an analysis of 357 cases

4 Aug 2025

Abstract excerpt

Objective Translation of fertility risks through whole-exome sequencing of family lines to identify variants that explain patient’s clinical phenotypes. Methods 1. Using techniques such as amniotic fluid, chorionic villus, or umbilical cord blood sampling, intact fetal cells were extracted for cell culture and subsequently analyzed using chromosomal karyotyping and chromosomal microarray techniques. 2. With fully...

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Share to Assisted Reproductive Technology and Twin Pregnancy
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PMID: 40832109
DOI: 10.3389/fmed.2025.1529894

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