Title: Beckwith Wiedemann syndrome: a population-based study on prevalence, prenatal diagnosis, associated anomalies and survival in Europe
Citation: EUROPEAN JOURNAL OF MEDICAL GENETICS vol. 61 no. 9 p. 499-507
Publication Year: 2018
JRC N°: JRC111215
ISSN: 1769-7212 (online)
URI: http://publications.jrc.ec.europa.eu/repository/handle/JRC111215
DOI: 10.1016/j.ejmg.2018.05.014
Type: Articles in periodicals and books
Abstract: Beckwith Wiedemann syndrome is complex developmental disorder characterised by somatic overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, 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. Birth weight ≥ 97th percentile has been found in 49.2% and 46.6% of preterm males and females, respectively. Of term newborns, 41.1% of males and 25% 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 first week of life, and 16.2% in the first year of life. The mean gestational age at prenatal diagnosis by obstetric ultrasound was 19.8±6.2 (11-39) gestational weeks. The mean prenatal diagnosis of cases where parents opted for termination of pregnancy was 15.3±2.4 (11-22) gestational weeks, and the mean gestational age at termination was 19.3± 4.1 (13-26) gestational weeks. The prenatal detection rate was 64.1% (141/220) with no significant change over time. There were12.7% familial cases. The study confirms the association of assisted reproductive technologies with Beckwith Wiedemann syndrome, as 7.2 % (13/181) patients were conceived by one of the methods of assisted reproductive technologies, which is three time higher compared to the general European population. Twin pregnancies of undetermined zygosity were recorded in 5.7% (21/365) cases, and are on average three to four times more common than in European countries that participated in the study. The estimated mean prevalence of classical Beckwith Wiedemann syndrome in Europe was 4.2 per 100,000 births or 1:23,809 births.
JRC Directorate:Health, Consumers and Reference Materials

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