Results 191 to 200 of about 53,129 (300)

Prenatal Exome Sequencing Analysis in Fetuses With Structural Anomalies: A Multicenter Prospective Cohort Study With Practical Implications

open access: yesPrenatal Diagnosis, Volume 46, Issue 1, Page 46-55, January 2026.
ABSTRACT Objective To evaluate the diagnostic value of prenatal exome sequencing (ES) integrated with copy number variant (CNV) and single nucleotide variant (SNV) analysis (ES‐CNV/SNV) in fetuses with structural anomalies following negative chromosomal microarray analysis (CMA) and karyotyping, and to delineate the practical challenges encountered ...
Yulin Jiang   +21 more
wiley   +1 more source

A disrupted compartment boundary underlies abnormal cardiac patterning and congenital heart defects. [PDF]

open access: yesNat Cardiovasc Res
Kathiriya IS   +20 more
europepmc   +1 more source

The Incremental Yield of CMA Over Karyotype in Fetal Growth Restriction—A Systematic Review and Meta‐Analysis

open access: yesPrenatal Diagnosis, Volume 46, Issue 1, Page 56-74, January 2026.
ABSTRACT The main objective of our study was to conduct a systematic literature review and a meta‐analysis to evaluate the incremental yield of chromosomal microarray analysis compared with karyotyping in cases of fetal growth restriction. Our review was designed according to the PRISMA guidelines.
Ioakeim Sapantzoglou   +8 more
wiley   +1 more source

Diagnosis of congenital and acquired Gerbode defects by cardiac MRI: two cases. [PDF]

open access: yesRadiol Case Rep
Nguyen QT   +4 more
europepmc   +1 more source

Can Prenatal Ultrasonographic Markers Predict Enteral Feeding Tolerance in Neonates With Fetal Omphalocele?

open access: yesPrenatal Diagnosis, Volume 46, Issue 1, Page 21-29, January 2026.
ABSTRACT Objective This study aimed to identify prenatal ultrasonographic predictors of enteral feeding tolerance in neonates with omphaloceles. Method This retrospective cohort study included all live‐born neonates prenatally diagnosed with omphalocele at Emma Children's Hospital/Amsterdam UMC approximately 2004–2024.
Maaike Hogerwerf   +7 more
wiley   +1 more source

The Use of Treprostinil for Bronchopulmonary Dysplasia Associated Pulmonary Hypertension

open access: yesPediatric Pulmonology, Volume 61, Issue 1, January 2026.
ABSTRACT Background Treprostinil for the treatment of bronchopulmonary dysplasia‐associated pulmonary hypertension (BPD‐PH) has previously been described in small cohort studies, often used later in the course after failure to improve on other therapies.
Stephanie M. Tsoi   +8 more
wiley   +1 more source

Standardized mortality ratio in adults with congenital heart disease. [PDF]

open access: yesEur Heart J Open
Hahlin E   +8 more
europepmc   +1 more source

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