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Frequency of Prader-Willi syndrome in births conceived via assisted reproductive technology

June-Anne Gold1, Chelsey Ruth1, Kathryn Osann2

  • 11] Division of Genetics and Metabolism, Department of Pediatrics, University of California, Irvine, Irvine, California, USA [2] Present address: Division of Medical Genetics and Metabolism, Department Pediatrics, Loma Linda University Medical Center, Loma Linda, California, USA (J.-A.G.); Fetal Diagnostic Center, Kapiolani Medical Center for Women and Children, Honolulu, Hawaii, USA (C.R.); Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA (S.D.).

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|August 10, 2013
PubMed

Insights

This study found no link between assisted reproductive technology and Prader-Willi syndrome. However, assisted reproductive technology was associated with a higher rate of twinning and imprinting defects in individuals with Prader-Willi syndrome.

Area of Science:

  • Genetics
  • Reproductive Medicine
  • Pediatrics

Background:

  • Prader-Willi syndrome is a genetic imprinting disorder affecting chromosome 15q11.2-q13.
  • It presents with distinct facial, physical, and cognitive/behavioral characteristics.
  • Previous research suggests a potential link between assisted reproductive techniques and imprinting disorders.

Purpose of the Study:

  • To investigate the association between assisted reproductive technology (ART) and the occurrence of Prader-Willi syndrome.
  • To determine if ART influences the risk of developing Prader-Willi syndrome.

Main Methods:

  • Data from three distinct patient cohorts with Prader-Willi syndrome were analyzed.
  • The proportion of births conceived via ART was calculated for each cohort.
  • Statistical analysis compared ART birth rates in Prader-Willi syndrome patients to general population frequencies.

Main Results:

  • The overall proportion of ART births in individuals with Prader-Willi syndrome was 1.1%, aligning with the general US population frequency of 1.0%.
  • A statistically significant increase in twinning frequency was observed in the Prader-Willi syndrome cohort conceived via ART (2.4% vs. 1.6% general population).
  • Individuals with maternal disomy 15/imprinting defects showed a higher prevalence among ART-conceived Prader-Willi syndrome cases (55.6%) compared to the overall cohort (34.5%).

Conclusions:

  • The study found no evidence to support an association between assisted reproductive technology and Prader-Willi syndrome.
  • An increased frequency of twinning was noted in ART-conceived cases.
  • A higher proportion of maternal disomy 15/imprinting defects was observed in the ART-conceived Prader-Willi syndrome group.
Abstract

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