Results 91 to 100 of about 10,836 (250)

Undetected cases after implementation of first‐trimester anomaly scan in low‐risk population: insights from the IMITAS study

open access: yesUltrasound in Obstetrics &Gynecology, Volume 67, Issue 1, Page 27-33, January 2026.
ABSTRACT Objective To assess the effectiveness of the first‐trimester anomaly scan (FTAS) performed as part of a centrally steered national screening program in The Netherlands by investigating false‐negative cases with a fetal structural anomaly that was not detected at the FTAS.
K. Bronsgeest   +18 more
wiley   +1 more source

Prevalensi Bayi Lahir Cacat (Malformasi Kongenital) Di Rumah Sakit Pendidikan Fakultas Kedokteran Universitas YARSI [PDF]

open access: yes, 2009
Congenital Malformations was instrumental in perinatal morbidity and infant mortality. Patients with severe disorders are classified to be affected physically, mentally, and socially and require special attention.
Mustofa, S. (Samsul)   +2 more
core  

Escharotic Therapy vs. Primary Facial Closure for Omphalocele: An Early Outcome Analysis

open access: yesMedical Journal of Dr. D.Y. Patil Vidyapeeth
Context: Omphalocele is a congenital midline periumbilical abdominal wall defect with the herniated visceral organs covered by a membrane. The morbidity and mortality of neonates with omphalocele in our geographical area are under-evaluated.
Bhairu L. Gurjar, Rahul Gupta
doaj   +1 more source

Whole‐genome paternal uniparental disomy identified through prenatal single‐nucleotide polymorphism‐based cell‐free DNA screening

open access: yesUltrasound in Obstetrics &Gynecology, Volume 67, Issue 1, Page 73-78, January 2026.
ABSTRACT Objective Prenatal single‐nucleotide polymorphism (SNP)‐based cell‐free DNA (cfDNA) screening can identify genome‐wide paternal uniparental disomy (GW‐UPDpat), including cases with complete hydatidiform mole with a coexisting fetus (CHMCF), those with placental mesenchymal dysplasia (PMD) and those with a mosaic/chimeric GW‐UPDpat syndrome ...
P. Benn   +5 more
wiley   +1 more source

Congenital malformations at a referral hospital in Gorgan, Islamic Republic of Iran [PDF]

open access: yes, 2005
This study recorded the rate of congenital malformations in 10 000 births at a referral hospital in Gorgan, Islamic Republic of Iran in 1998-99. The overall incidence of congenital malformations was 1.01% (1.19% in males and 0.76% in females).
Ahmadpour-Kacho, M.   +2 more
core  

Initial management of omphalocele using negative pressure wound therapy (NPWT) in Ecuador: A case series

open access: diamond, 2022
Daniel Acosta-Farina   +6 more
openalex   +2 more sources

PPP1R12A Mutation Presenting With Congenital Jejunal Atresia and Short Stature: A Pediatric Endocrinology Case Report

open access: yesCase Reports in Pediatrics, Volume 2026, Issue 1, 2026.
We report an 11‐year‐old Hispanic male with a PPP1R12A gene de novo heterozygous likely pathogenic mutation, p. (Gln13Arg) (CAG>CGG), c.38 A > G in Exon 1 (NM_002480.2), detected on whole‐exome trio sequencing during his short‐stature evaluation.
Rosita Saul   +5 more
wiley   +1 more source

Predictive factors at birth of the severity of gastroschisis. [PDF]

open access: yes, 2015
To establish children born with gastroschisis (GS). We performed a retrospective study covering the period from January 2000 to December 2007. The following variables were analyzed for each child: Weight, sex, apgar, perforations, atresia, volvulus ...
Ballabeni, P.   +4 more
core   +1 more source

Omphalocele, bifid scrotum, hypospadias and micropenis: clinical outcome in cases with normal karyotype

open access: hybrid, 2023
Cătălina Iovoaica-Rămescu   +12 more
openalex   +1 more source

An unusual case of Foetal Gastroschisis with Limb aplasia and Extra-corporal liver [PDF]

open access: yes, 2005
Gastroschisis represents a herniation of abdominal contents through a paramedian full-thickness abdominal fusion defect without involving the umbilical cord.
Hebbar, Shripad, N, Pratapkumar
core  

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