ArticleJournal of medical genetics2018
Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome.
Article in Journal of medical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 33 citations in OpenAlex.
- Failure to Thrive in Infants with Prader-Willi Syndrome and Long-Term Effects of GH Treatment on FTT.Hormone research in paediatrics · 2026Article
- Correlations between endocrine-metabolic characteristics and body fat distribution, appetite, growth, and memory in children with Prader-Willi syndrome.Clinics (Sao Paulo, Brazil) · 2026Article
- Review
- Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation.Frontiers in endocrinology · 2024Review
- Prenatal and Neonatal Characteristics of Children with Prader-Willi Syndrome.Journal of clinical medicine · 2022Article
- Clinical Utility of Methylation-Specific Multiplex Ligation-Dependent Probe Amplification for the Diagnosis of Prader-Willi Syndrome and Angelman Syndrome.Annals of laboratory medicine · 2022Article
- Management of Prader-Labhart-Willi syndrome in children and in adults, with particular emphasis on the treatment with recombinant human growth hormone.Pediatric endocrinology, diabetes, and metabolism · 2022Review
- Clinical Characteristics and Growth Hormone Treatment in Patients with Prader-Willi SyndromeJournal of clinical research in pediatric endocrinology · 2021Article
- Correlation of Genotype and Perinatal Period, Time of Diagnosis and Anthropometric Data before Commencement of Recombinant Human Growth Hormone Treatment in Polish Patients with Prader-Willi Syndrome.Diagnostics (Basel, Switzerland) · 2021Article
- Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum.The Journal of clinical endocrinology and metabolism · 2021Article
- [Clinical screening and genetic diagnosis for Prader-Willi syndrome].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2020Article
- Perinatal features of Prader-Willi syndrome: a Chinese cohort of 134 patients.Orphanet journal of rare diseases · 2020Article
- Epigenetic therapy of Prader-Willi syndrome.Translational research : the journal of laboratory and clinical medicine · 2019Review
- Obestatin and adropin in Prader-Willi syndrome and nonsyndromic obesity: Associations with weight, BMI-z, and HOMA-IR.Pediatric obesity · 2019Article
Corrections and comments
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Authors and funding
10 authors at 7 institutions in 2 countries.
Funding
Abstract
introductionPrader-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.
objectiveThe aim of the study was to identify and compare frequencies of prenatal and neonatal clinical features of PWS among the three genetic subtypes.
methodsData 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.
resultsAmong 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).
conclusionWe 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.
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