Results 141 to 150 of about 48,754 (258)

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei   +9 more
wiley   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust   +15 more
wiley   +1 more source

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas   +7 more
wiley   +1 more source

A Framework for Bioinformatic Reporting in Prenatal Sequencing: Insights From a Systematic Review

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Genomic sequencing has become a key tool in the investigation of foetal anomalies, with a growing shift from targeted panels to exome and genome sequencing. These broader approaches generate significantly more data, underscoring the need for robust bioinformatics pipelines. However, practices vary widely between laboratories.
Ashley J. Pritchard   +6 more
wiley   +1 more source

Impact of maternal smoking and secondhand smoke exposure during singleton pregnancy on placental abruption: analysis of a prospective cohort study (the Japan Environment and Children's Study). [PDF]

open access: yesBMJ Open
Karumai-Mori H   +19 more
europepmc   +1 more source

The Clinical Utility of Sequence‐Based Genetic Testing for Fetal Edema Following Non‐Diagnostic Microarray Results: A Population‐Based Cohort Study

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective Ultrasound findings of fetal edema may provide early evidence of a genetic disorder. Our objective was to evaluate the frequency and diagnostic yield of sequencing in a selected population after a non‐diagnostic microarray result for fetal edema.
Victoria M. Allen   +5 more
wiley   +1 more source

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