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Article

Parental motivations for and adaptation to trio‐exome sequencing in a prospective prenatal testing cohort: Beyond the diagnosis

8 Feb 2022

Abstract excerpt

PURPOSE: To understand motivations for and parental interpretation of results from trio-exome sequencing (ES) for fetal anomalies with a negative standard genetic diagnosis. METHODS: Analysis of an ongoing, prospective prenatal trio-ES study of pregnancies with ultrasound-identified congenital anomalies and lack of a standard genetic diagnosis. After determination of pregnancy disposition, participants completed...

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Share to Genomic variations and chromosomal abnormalities
Share to Genomics and Rare Diseases
Share to Prenatal Screening and Diagnostics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35132674
DOI: 10.1002/pd.6112

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