Article
Integrating Prenatal Exome Sequencing and Ultrasonographic Fetal Phenotyping for Assessment of Congenital Malformations: High Molecular Diagnostic Yield and Novel Phenotypic Expansions in a Consanguineous Cohort.
Clinical genetics - 1 Jul 2025
El-Dessouky Sara H, Sharaf-Eldin Wessam E, Aboulghar Mona M, Mousa Hatem A, Zaki Maha S, Maroofian Reza, Senousy Sameh M, Eid Maha M, Gaafar Hassan M, Ebrashy Alaa, Shikhah Ahmed Z, Abdelfattah Ahmed N, Ezz-Elarab Ahmed, Ateya Mohamed I, Hosny Adel, Youssef Mohamed Abdefattah, Abdella Rana, Issa Mahmoud Y, Matsa Lova S, Abdelaziz Nahla, Saad Ahmed K, Alavi Shahryar, Tajsharghi Homa, Abdalla Ebtesam M
Abstract excerpt
To evaluate the diagnostic yield of prenatal exome sequencing (pES) in fetuses with structural anomalies detected by prenatal ultrasound in a consanguineous population. This was a prospective study of 244 anomalous fetuses from unrelated consanguineous Egyptian families. Detailed phenotyping was performed throughout pregnancy and postnatally, and pES data analysis was conducted. Genetic variants were prioritized...
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