Results 201 to 210 of about 207,306 (308)

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

Moderate Diagnostic Yield of Exome Sequencing in Fetal Growth Restriction: Retrospective Insights

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To determine whether invasive genetic testing should be systematically proposed in cases of FGR. Methods Descriptive retrospective study of 159 FGR cases (defined by an estimated fetal growth < 3rd percentile, regardless of Doppler findings) managed at the Toulouse Fetal Medicine Center (TFMC) during 2022–2023.
Maud Langeois   +5 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

The Sooner, the Better: Neuroprotective Strategies in Fetuses With Congenital Heart Disease

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Congenital heart disease (CHD) is the most frequent congenital malformation at birth and is associated with neurodevelopmental impairments. Alterations in cardiovascular physiology can lead to reduced cerebral blood perfusion and oxygenation, which negatively affects brain growth and maturation.
Maaike Nijman   +7 more
wiley   +1 more source

Pregnancy Outcomes and Disease Activity in Women With Inflammatory Bowel Disease in Qatar: A Retrospective Cohort Study. [PDF]

open access: yesJGH Open
Joudah AI   +10 more
europepmc   +1 more source

Prenatal Detection of Fetal Abdominal Cysts: Can We Reassure Future Parents?

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective This study aimed to evaluate the perinatal outcome of fetal abdominal cysts based on the timing of prenatal diagnosis and identify prenatal characteristics associated with postnatal surgical intervention. Methods Fetuses with prenatally detected isolated abdominal cysts referred between January 2007 and December 2022 were included ...
H. Heinrich   +8 more
wiley   +1 more source

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