Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome. Issue 9 (18th May 2018)

• Record Type: Journal Article
• Authors: Singh, Preeti; Mahmoud, Ranim; Gold, June-Anne; Miller, Jennifer L; Roof, Elizabeth; Tamura, Roy; Dykens, Elisabeth; Butler, Merlin G; Driscoll, Dan J; Kimonis, Virginia
• Is Part Of: Journal of medical genetics. Volume 55:Issue 9(2018)
• Page Start: 594
• Page End: 598
• Publication Date: 2018-05-18
• Subjects: prader- willi syndrome -- perinatal features -- deletion -- uniparental disomy -- neonatal features; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmedgenet-2017-105118
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : Introduction: Prader-Willi syndrome (PWS) is a complex genetic disorder associated with three different genetic subtypes: deletion of the paternal copy of 15q11-q13, maternal UPD for chromosome 15 and imprinting defect. Patients are typically diagnosed because of neonatal hypotonia, dysmorphism and feeding difficulties; however, data on the prenatal features of PWS are limited. Objective: The aim of the study was to identify and compare frequencies of prenatal and neonatal clinical features of PWS among the three genetic subtypes. Methods: Data from 355 patients with PWS from the Rare Diseases Clinical Research Network PWS registry were used to analyse multiple maternal and neonatal factors collected during an 8-year multisite study. Results: Among our cohort of 355 patients with PWS (61% deletion, 36% UPD and 3% imprinting defect) 54% were born by caesarean section, 26% were born prematurely and 34% with a low birth weight (frequencies 32%, 9.6% and 8.1%, respectively, in the general population). Fetal movements were reported as decreased in 72%. All babies were hypotonic, and 99% had feeding difficulties. Low Apgar scores (<7) were noted in 17.7% and 5.6% of patients, respectively, compared with 1% and 1.4%, respectively, in the general population. Maternal age and pre-pregnancy weight were significantly higher in the UPD group (p=0.01 and <0.001, respectively). Conclusion: We found a higher rate of perinatal complications in PWS syndrome compared with the general population. No significant differences in the genetic subtypes were noted except for a higher maternal age and pre-pregnancy weight in the UPD subgroup