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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.

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Title: 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.
Authors: El-Dessouky SH; Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Sharaf-Eldin WE; Medical & Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Aboulghar MM; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Mousa HA; Maternal and Fetal Medicine Unit, University Hospitals of Leicester NHS Trust, UK., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK., Senousy SM; Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Eid MM; Human Cytogenetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Gaafar HM; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Ebrashy A; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Shikhah AZ; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Abdelfattah AN; Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Ezz-Elarab A; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Ateya MI; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Hosny A; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Youssef MA; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Abdella R; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Matsa LS; Genomic Precision Diagnostic Department, Igenomix, New Delhi, India., Abdelaziz N; Medical & Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Saad AK; Medical & Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Alavi S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK., Tajsharghi H; School of Health Sciences, Division Biomedicine, University of Skövde, Skövde, Sweden., Abdalla EM; Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt.
Source: Clinical genetics [Clin Genet] 2025 Jul; Vol. 108 (1), pp. 33-48. Date of Electronic Publication: 2025 Jan 31.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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