Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network
Paediatric and Perinatal Epidemiology, EarlyView.ABSTRACT Background Surveillance of congenital anomaly prevalence over time can identify new teratogens. Anomalies with a genetic cause are excluded from the monitoring. Objectives We examined temporal changes in the proportion of genetic diagnoses among cases with a congenital anomaly.
Jorieke E. H. Bergman +23 more
wiley +1 more source
A novel approach for the closure of challenging giant omphalocele
Journal of Pediatric Surgery Case Reports, 2015 Omphalocele is a congenital condition characterized by midline defect of the anterolateral abdominal wall whereby intra-abdominal contents covered by peritoneal sac are found herniated. It can be defined by size of defect or visceral contents.
Barkat Ali, Anil Shetty, Jason McKee
doaj +1 more source
Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan
American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 329-338, February 2026.ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato +2 more
wiley +1 more source
Rare Abdominal Wall Malformation: Case Report of Umbilical Cord Hernia
Acta Medica, 2018 The umbilical cord hernia is the rarest form of abdominal wall malformations, anatomically completely different from gastroschisis and omphalocele. It occurs due to the permanent physiological evisceration of abdominal organs into umbilical celom and ...
Andro Gliha +5 more
doaj +1 more source
THE PREVALENCE OF BIRTH DEFECTS AMONG NON-HISPANIC ASIANS AND AMERICAN INDIANS/ALASKA NATIVES IN TEXAS, 1999-2015 [PDF]
, 2019 Background: Birth defects are disproportionately higher among certain race/ethnic groups. We examined how birth defects prevalence differs among the less studied non-Hispanic (NH) Asian and any American Indian/Alaska Native (AI/AN) populations, relative ...
LE, VAN
core +1 more source
LIMB BODY WALL COMPLEX IN TWO HETEROZYGOTIC TWINS: A CASE REPORT [PDF]
, 2011 Introdution. Limb-Body Wall Complex (LBWC) is a congenital defect which includes at least two of the following characteristics: abdominal and/or thoracic body wall defects, exencephaly or encephalocoele with or without craniofacial defects (56%) and ...
Angotti, R +4 more
core +1 more source
Echocardiographic measurements of left ventricular dimensions and function in newborns with omphalocele and pulmonary [PDF]
, 2023 Sisi Yang +6 more
openalex +1 more source
The Importance of Clinical Acumen for Prenatal Diagnosis in an Increasingly Technological World
Prenatal Diagnosis, EarlyView.
Teresa N. Sparks, Lyn S. Chitty
wiley +1 more source
Journal of Advanced Nursing, Volume 82, Issue 2, Page 1725-1736, February 2026.ABSTRACT Aim To test the feasibility and acceptability of a newly developed model of neonatal nurse‐controlled analgesia to manage pain in the post‐operative infant. Design The study utilised a single‐centre two‐arm parallel, unblinded randomised controlled external pilot trial design.
Renee Muirhead +5 more
wiley +1 more source
Dilated azygos arch mimicking an aortic arch anomaly during thoracic surgery [PDF]
, 2017 Cardiovascular malformations are frequently associated in patients with esophageal atresia (EA). We observed azygos continuation mimicking an aortic arch anomaly in four newborns with type III EA.
Corsello, G. +4 more
core +1 more source