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Article

Pathogenic recurrent copy number variants in 7,078 pregnancies via chromosomal microarray analysis

11 Dec 2023

Abstract excerpt

OBJECTIVES: To investigate the incidence of pathogenic recurrent CNVs in fetuses with different referral indications and review the intrauterine phenotypic features of each CNV. METHODS: A total of 7,078 amniotic fluid samples were collected for chromosome microarray analysis (CMA) and cases carrying pathogenic recurrent CNVs were further studied. RESULTS: The highest incidence of pathogenic recurrent CNVs was...

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Share to Fetal and Pediatric Neurological Disorders
Share to Genomic variations and chromosomal abnormalities
Share to Prenatal Screening and Diagnostics

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PMID: 38081620
DOI: 10.1515/jpm-2022-0580

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