Results 171 to 180 of about 600,328 (248)

Genetic Investigation in Fetal Growth Restriction: An Integrated Approach for Clinical Practice

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT International guidelines recommend genetic testing when fetal growth restriction (FGR) accompanies structural anomalies, but recommendations for apparently isolated FGR remain variable, particularly regarding gestational age thresholds and the role of exome sequencing (ES). Interpretation is difficult because studies define FGR inconsistently,
Eran Ashwal, David Chitayat
wiley   +1 more source

Diagnostic Yield of Sequencing in Prenatal Agenesis of the Corpus Callosum in a Well‐Phenotyped International Cohort

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the incremental diagnostic yield of sequencing in a large, well‐phenotyped international cohort of fetuses with prenatally diagnosed agenesis of the corpus callosum (ACC) and to identify associated genes and variants. Methods Retrospective multicenter cohort study of fetuses with a prenatal diagnosis of ACC undergoing ...
Lorraine Dugoff   +18 more
wiley   +1 more source

Fetal Intracranial Hemorrhage: What to Tell Expecting Parents?

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT To review the classification, epidemiology, etiology, prenatal diagnostic approach, and neurodevelopmental outcomes of fetal intracranial hemorrhage (ICH), and to provide clinicians with a practical, fetal‐specific framework for investigating and counseling families facing this diagnosis.
Shiri Shinar, Yada Kunpalin, Elka Miller
wiley   +1 more source

From double bubble sign to definitive diagnosis: prenatal ultrasound evaluation of congenital duodenal obstruction. [PDF]

open access: yesUltrasound Obstet Gynecol
Sgayer I   +5 more
europepmc   +1 more source

Integrated Molecular Autopsy in a Highly Consanguineous Perinatal Cohort With Severe Malformations and Strong Genetic Susceptibility

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of integrated molecular autopsy (IMA) by combining deep post‐mortem phenotyping with exome (ES) and targeted genome sequencing (GS) for prenatally detected anomalies. Method This retrospective study evaluated 28 perinatal cases (22 fetuses, six neonates) with severe anomalies, normal first‐tier ...
Sihem Darouich   +6 more
wiley   +1 more source

Artificial intelligence, equity, and pediatric neurodevelopmental disorders: A scoping review of clinical practice applications

open access: yesPediatric Investigation, EarlyView.
Artificial intelligence (AI) is being explored to support diagnosis and care for pediatric neurodevelopmental disorders, yet most tools remain in early stages of development. This scoping review identifies limited external validation, narrow population representation, and sparse equity considerations, underscoring the need for inclusive, clinically ...
Florida Uzoaru   +3 more
wiley   +1 more source

Home - About - Disclaimer - Privacy