Article

Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes

2021-08-25

Abstract excerpt

<title>Abstract</title> <p>Background Fetal abnormalities are detected in 3% of all pregnancies and are responsible for approximately 20% of all perinatal deaths. Chromosomal microarray analysis (CMA) and exome sequencing (ES) are widely used in prenatal settings for molecular genetic diagnostics with variable diagnostic yields. In this study, we aimed to determine the diagnostic yield of trio-ES in detecting th...

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Literature Corpus work: 34d02b73-a12e-5d60-8e08-67c568ce0aad
DOI: 10.21203/rs.3.rs-828519/v1

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