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Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

1 Feb 2019

Abstract excerpt

BACKGROUND: Fetal structural anomalies, which are detected by ultrasonography, have a range of genetic causes, including chromosomal aneuploidy, copy number variations (CNVs; which are detectable by chromosomal microarrays), and pathogenic sequence variants in developmental genes. Testing for aneuploidy and CNVs is routine during the investigation of fetal structural anomalies, but there is little information on...

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Genetic Syndromes and Imprinting
Genomics and Rare Diseases
Prenatal Screening and Diagnostics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 30712880
DOI: 10.1016/s0140-6736(18)31940-8

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