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Genetic correlation between fetal nuchal translucency thickening and cystic hygroma and exploration of pregnancy outcome

8 Nov 2024

Abstract excerpt

Chromosome microarray analysis (CMA) and whole exome sequencing (WES) are increasingly utilized in prenatal diagnosis of abnormal ultrasound findings, but studies on correlation between pathogenic copy number variations (pCNVs) and single-gene mutations in fetuses with nuchal translucency (NT) thickening/cystic hygroma (CH), and pregnancy outcomes, are rare. This study aimed to investigate clinical value of CMA...

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PMID: 39516223
DOI: 10.1038/s41598-024-76628-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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