Results 91 to 100 of about 10,836 (250)
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]
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
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
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]
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
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]
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
An unusual case of Foetal Gastroschisis with Limb aplasia and Extra-corporal liver [PDF]
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

