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Genotype-phenotype correlations
Original article
Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome
  1. Preeti Singh1,2,
  2. Ranim Mahmoud1,3,
  3. June-Anne Gold1,3,4,
  4. Jennifer L Miller5,
  5. Elizabeth Roof6,
  6. Roy Tamura7,
  7. Elisabeth ‎ Dykens6,
  8. Merlin G Butler8,
  9. Dan J Driscoll5,9,
  10. Virginia Kimonis1
  1. 1Division of Genetics and Metabolism, Department of Pediatrics, University of California, Irvine, California, USA
  2. 2Division of Neonatology, Department of Pediatrics, University of California, Irvine, California, USA
  3. 3Pediatrics, Children’s Hospital of Orange County, Orange, California, USA
  4. 4Division of Genetics and Metabolism, Department of Pediatrics, Loma Linda University Medical School, Loma Linda, California, USA
  5. 5Department of Pediatrics, College of Medicine, University of Florida, Gainesville, Florida, USA
  6. 6Vanderbilt Kennedy Center for Research on Human Development, Vanderbilt University, Nashville, Tennessee, USA
  7. 7Health Informatics Institute, University of South Florida, Tampa, Florida, USA
  8. 8Departments of Psychiatry, Behavioral Sciences, and Pediatrics, Kansas University Medical Center, Kansas City, Kansas, USA
  9. 9Center of Epigenetics, College of Medicine, University of Florida, Gainesville, Florida, USA
  1. Correspondence to Dr Virginia Kimonis, Division of Genetics and Genomic Medicine, University of California, Irvine, CA 92606, USA; vkimonis{at}uci.edu

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

  • prader- willi syndrome
  • perinatal features
  • deletion
  • uniparental disomy
  • neonatal features

https://doi.org/10.1136/jmedgenet-2017-105118

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    Footnotes

    • PS and RM contributed equally.

    • Contributors Study conception and design: DJD. Acquisition of data: JAG, JLM, VK, MGB, DJD. Analysis and interpretation of data: PS, RMHM, RT, VK. Drafting of manuscript: PS, RMHM, VK. Critical revision: VK, MGB, DJD, RT. All authors have participated in revising the manuscript critically and gave their final approval of the version to be submitted.

    • Funding This research was funded by a grant from NIH/NCATS Clinical and Translational Science Award University of Florida (UL1 TR000064) and the Prader-Willi Syndrome Association (USA); National Institutes of Health (NIH) Rare Disease Clinical Research Network (RDCRN) (U54 HD06122).

    • Competing interests None declared.

    • Patient consent Parental/guardian consent obtained.

    • Ethics approval Institutional Review Boards of University of California Irvine, University of Florida, Vanderbilt University and University of Kansas.

    • Provenance and peer review Not commissioned; externally peer reviewed.