Massively parallel sequencing has revolutionized our understanding of Mendelian
disorders, and many novel genes have been discovered to cause disease phenotypes when …

Objective Rare genetic disorders resulting in prenatal or neonatal death are genetically
heterogeneous, but testing is often limited by the availability of fetal DNA, leaving couples …

WES has proven to be a disrupting technology, enabling genetic diagnosis for pregnancies
complicated by previously unexplained foetal abnormalities, and revealing a significant …

New sequencing methods capable of rapidly analyzing the genome at increasing resolution
have transformed diagnosis of single-gene or oligogenic genetic disorders in pediatric and …

We report the results of clinical exome sequencing (CES) on> 2,200 previously unpublished
Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed …

Analysis of cell-free fetal DNA in maternal plasma holds promise for the development of
noninvasive prenatal genetic diagnostics. Previous studies have been restricted to detection …

Objective To ascertain the performance of exome sequencing (ES) technology for
determining the etiological basis of abnormal perinatal phenotypes and to study the impact …

The monogenic etiology of most severe fetal anomaly syndromes is poorly understood. Our
objective was to use exome sequencing (ES) to increase our knowledge on causal variants …

Prenatal genetic diagnosis provides information for pregnancy and perinatal decision‐
making and management. In several small series, prenatal whole exome sequencing (WES) …

BACKGROUND Ultrasonography-detected fetal sonographic abnormalities are identified in
2% to 3% of pregnancies. 1 Genetic diagnosis with amniocentesis or chorionic villus …