AI Networking Cookbook: Practical recipes for AI-assisted network automation and development
TL;DR
Prenatal whole-exome sequencing demonstrates high clinical utility in the diagnosis of fetal monogenic disorders and shows the greatest effectiveness in fetuses with structural anomalies and in families at high genetic risk.
OBJECTIVE To characterize prenatal sonographic features, genomic findings from chromosomal microarray analysis (CMA) and whole-exome sequencing (WES), pregnancy outcomes, and postnatal manifestations in KBG syndrome and to provide evidence for prenatal diagnosis and genetic counseling in at-risk pregnancies. METHODS...
Objective: to assess the detection rate of monogenic disorders in neonates with encephalopathy using whole-exome sequencing. Materials and Methods. A cohort descriptive study was conducted at the Ural Research Institute for Maternal and Child Health in 2024–2025. Whole-exome sequencing (WES) results fr...
Ultrasound findings suggest that genetic risk varies by CHD type, complexity, and extracardiac anomalies, which may inform more precise prenatal genetic risk stratification.
Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases. We report ES findings in the remaining coho...
Dual molecular diagnoses, defined as the coexistence of pathogenic variants in two distinct disease-causing genes, challenge the traditional single-gene model of Mendelian inheritance. With the advent of whole-exome sequencing (WES), such complex genotypes are increasingly recognized. To investigate the clinical and ge...
Background/Objectives: Genomic sequencing can shorten the diagnostic pathway for selected symptomatic neonates and young infants, but evidence from such cohorts should not be extrapolated to population newborn screening. This study describes molecular findings and potential clinical implications in 25 unrelated patient...
We use cookies to run the site and, with your consent, for analytics and to show ads. See our Cookie Policy.