Evidence map›Paper›PMID 23928912›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2014

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

June-Anne Gold, Chelsey Ruth, Kathryn Osann, Pamela Flodman, Barbara McManus, Hye-Seung Lee, Sandra Donkervoort, Manaswitha Khare, Elizabeth Roof, Elizabeth Dykens and 6 more

Erratum issuedAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 11 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

11 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Review
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  4. Review
  5. Imprinting disorders in humans: a review.Current opinion in pediatrics · 2020
    Review
  6. Article
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4 · The record

Corrections and comments

  • Erratum issued
    Miller, Jennifer L [added]
5 · Who and what money

Authors and funding

16 authors.

June-Anne Gold1] 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.).
Chelsey Ruth1] 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.).
Kathryn OsannDivision of Genetics and Metabolism, Department of Pediatrics, University of California, Irvine, Irvine, California, USA.
Pamela FlodmanDivision of Genetics and Metabolism, Department of Pediatrics, University of California, Irvine, Irvine, California, USA.
Barbara McManusPrader-Willi Association (USA), Sarasota, Florida, USA.
Hye-Seung LeePediatrics Epidemiology Center, University of South Florida, Tampa, Florida, USA.
Sandra Donkervoort1] 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.).
Manaswitha KhareDivision of Genetics and Metabolism, Department of Pediatrics, University of California, Irvine, Irvine, California, USA.
Elizabeth RoofVanderbilt Kennedy Center, Vanderbilt University, Nashville, Tennessee, USA.
Elizabeth DykensVanderbilt Kennedy Center, Vanderbilt University, Nashville, Tennessee, USA.
Jennifer L Miller
Daniel J DriscollDepartment of Pediatrics, University of Florida, Gainesville, Florida, USA.
Merlin G Butler1] Department of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, Kansas City, Kansas, USA [2] Department of Pediatrics, University of Kansas Medical Center, Kansas City, Kansas, USA.
Janalee HeinemannPrader-Willi Association (USA), Sarasota, Florida, USA.
Suzanne CassidyDivision of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, California, USA.
Virginia E KimonisDivision of Genetics and Metabolism, Department of Pediatrics, University of California, Irvine, Irvine, California, USA.

Funding

Research Design and Analysis Core (RDAC)P30HD002528 · NICHD · UNIVERSITY OF KANSAS LAWRENCE · PI FOWLER, STEPHEN CLETIUS · 1985 to 2015
$22.1M
Training and Career Development ComponentU54HD061222 · NICHD · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI PERCY, ALAN KENNETH · 2009 to 2019
$12.4M
RARE DISEASE CRC FOR NEW THERAPIES AND NEW DIAGNOSTICSU54RR019478 · NCRR · BAYLOR COLLEGE OF MEDICINE · PI BEAUDET, ARTHUR L. · 2003 to 2008
$7.3M
NCRR NIH HHS RR019478NCRR NIH HHS U54 RR019478NICHD NIH HHS HD061222NICHD NIH HHS P30 HD002528NICHD NIH HHS U54 HD061222
6 · The paper itself

Abstract

purposePrader-Willi syndrome is an imprinting disorder characterized by typical facial, physical, and cognitive/behavioral features, resulting from lack of paternally expressed genes on chromosome 15q11.2-q13. Studies have suggested an increased risk of other imprinting disorders in children conceived by assisted reproductive techniques. This study was designed to determine the association between assisted reproductive technology and Prader-Willi syndrome.

methodsData on individuals with Prader-Willi syndrome were collected from three distinct sources and the proportion of assisted reproductive technology births analyzed.

resultsThe proportions of assisted reproductive technology births in the Prader-Willi Syndrome Association (USA), Rare Diseases Clinical Research Network, and University of California, Irvine Medical Center populations were 1.0% (18/1,736), 1.0% (1/98), and 2.0% (1/50), respectively (overall 1.1%; population frequency for the United States was 1.0%). Of note, 2.4% (45/1,898) of participants were co-twins (11 born after assisted reproductive technology procedures); US twin frequency is 1.6% (P = 0.007). The proportion of individuals with maternal disomy 15/imprinting defects born after assisted reproductive technology was higher than that in the total sample, 55.6% (10/18) and 34.5% (431/1,250), respectively.

conclusionThis study found no association between assisted reproductive technology and Prader-Willi syndrome. There was an increased frequency of twinning. The number of individuals with maternal disomy 15/imprinting defect was nearly double in the assisted reproductive technology group as compared with the total Prader-Willi syndrome participants.

Indexed as

Chromosomes, Human, Pair 15Genomic ImprintingHealth SurveysHumansPrader-Willi SyndromeReproductive Techniques, AssistedTwinsUniparental Disomy

Identifiers

PMID23928912
PMCPMC4164429

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.