Beckwith Wiedemann syndrome: A population-based study on prevalence, prenatal diagnosis, associated anomalies and survival in Europe

European Journal of Medical Genetics
Ingeborg BarisicJoan K Morris

Abstract

Beckwith Wiedemann syndrome is a complex developmental disorder characterized by somatic overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia, and predisposition to embryonal tumors. We present epidemiological and clinical aspects of patients with Beckwith Wiedemann syndrome diagnosed prenatally or in the early years of life, using data from EUROCAT (European Surveillance of Congenital Anomalies) registries. The study population consisted of 371 cases identified between January 1990 and December 2015 in 34 registries from 16 European countries. There were 15 (4.0%) terminations of pregnancy after prenatal detection of severe anomaly/anomalies, 10 fetal deaths (2.7%), and 346 (93.3%) live-births. Twelve (3.6%) of the 330 live-births with available information on survival died in the first week of life, of those eleven (91.6%) were preterm. First-year survival rate was 90.9%. Prematurity was present in 40.6% of males and 33.9% of females. Macrosomia was found in 49.2% and 43.3% of preterm males and females, respectively. Of term newborns, 41.1% of males and 24% of females were macrosomic. Out of 353 cases with known time of diagnosis, 39.9% were suspected prenatally, 36.3% at birth, 7.6% were diagnosed in the f...Continue Reading

Citations

Jun 13, 2019·European Journal of Human Genetics : EJHG·Maria YakorevaKatrin Õunap
Jan 30, 2020·Journal of Clinical Ultrasound : JCU·Judith AltmannStefan Verlohren
Oct 10, 2018·Archives of Disease in Childhood. Education and Practice Edition·Shilpa ShahGillian Rea
Jan 10, 2021·European Journal of Medical Genetics·Dana Brabbing-GoldsteinAdi Reches
Nov 17, 2020·Frontiers in Pediatrics·Joshua Manor, Seema R Lalani
Jul 5, 2019·Gynécologie, Obstétrique, Fertilité & Sénologie·N RouxS Beaudoin
Jul 10, 2021·Frontiers in Endocrinology·Marina CaputoFlavia Prodam

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Beckwith-Wiedemann syndrome is an imprinting disorder characterized by overgrowth, congenital malformations and predisposition to tumors. Discover the latest research on Beckwith-Wiedemann Syndrome here.

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