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Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management

29 Jan 2020

Abstract excerpt

OBJECTIVE: The aim of this study is to explore the utility of rapid medical trio exome sequencing (ES) for prenatal diagnosis using the skeletal dysplasia as an exemplar. METHOD: Pregnant women who were referred for genetic testing because of ultrasound detection of fetal abnormalities suggestive of a skeletal dysplasia were identified prospectively. Fetal samples (amniocytes or cord blood), along with parental...

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Share to Genomic variations and chromosomal abnormalities
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Share to Prenatal Screening and Diagnostics

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PMID: 31994750
DOI: 10.1002/pd.5653

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