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.
Human genetics - 1 Jan 2022
Al-Hamed Mohamed H, Kurdi Wesam, Khan Rubina, Tulbah Maha, AlNemer Maha, AlSahan Nada, AlMugbel Maisoon, Rafiullah Rafiullah, Assoum Mirna, Monies Dorota, Shah Zeeshan, Rahbeeni Zuhair, Derar Nada, Hakami Fahad, Almutairi Gawaher, AlOtaibi Afaf, Ali Wafaa, AlShammasi Amal, AlMubarak Wardah, AlDawoud Samia, AlAmri Saja, Saeed Bashayer, Bukhari Hanifa, Ali Mohannad, Akili Rana, Alquayt Laila, Hagos Samia, Elbardisy Hadeel, Akilan Asma, Almuhana Nora, AlKhalifah Abrar, Abouelhoda Mohamed, Ramzan Khushnooda, Sayer John A, Imtiaz Faiqa
Abstract excerpt
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 the cause of fetal abnormalities within a...
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