ReviewPrenatal diagnosis2017
Benefits and limitations of prenatal screening for Prader-Willi syndrome.
Review in Prenatal diagnosis, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
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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.
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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.
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Who cites it
14 citing papers in PubMed.
- Prenatal diagnosis of Prader-Willi syndrome via maternal UPD15 with placental mosaicism: incidental discovery of fetal DMD carrier status.Frontiers in genetics · 2025Article
- Expanding deep phenotypic spectrum associated with atypical pathogenic structural variations overlapping 15q11-q13 imprinting region.Brain and behavior · 2024Article
- Prader-Willi syndrome, deletion subtypes, and magnesium: Potential impact on clinical findings.American journal of medical genetics. Part A · 2022Article
- Cell-based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations.Clinical case reports · 2020Article
- Perinatal features of Prader-Willi syndrome: a Chinese cohort of 134 patients.Orphanet journal of rare diseases · 2020Article
- Clinical utility in infants with suspected monogenic conditions through next-generation sequencing.Molecular genetics & genomic medicine · 2019Article
- Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study.Journal of medical genetics · 2019Article
- Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update.Current pediatric reviews · 2019Review
- Clinical experience with multiplex ligation-dependent probe amplification for microdeletion syndromes in prenatal diagnosis: 7522 pregnant Korean women.Molecular cytogenetics · 2019Article
- Multicentre study of maternal and neonatal outcomes in individuals with Prader-Willi syndrome.Journal of medical genetics · 2018Article
- Neonatal Features of the Prader-Willi Syndrome; The Case for Making the Diagnosis During the First Week of LifeJournal of clinical research in pediatric endocrinology · 2018Article
- Comparison of perinatal factors in deletion versus uniparental disomy in Prader-Willi syndrome.American journal of medical genetics. Part A · 2018Article
- Prader-Willi syndrome and early-onset morbid obesity NIH rare disease consortium: A review of natural history study.American journal of medical genetics. Part A · 2018Review
- Prader-Willi syndrome: endocrine manifestations and management.Archives of endocrinology and metabolismReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
Abstract
This review summarizes the status of genetic laboratory testing in Prader-Willi syndrome (PWS) with different genetic subtypes, most often a paternally derived 15q11-q13 deletion and discusses benefits and limitations related to prenatal screening. Medical literature was searched for prenatal screening and genetic laboratory testing methods in use or under development and discussed in relationship to PWS. Genetic testing includes six established laboratory diagnostic approaches for PWS with direct application to prenatal screening. Ultrasonographic, obstetric and cytogenetic reports were summarized in relationship to the cause of PWS and identification of specific genetic subtypes including maternal disomy 15. Advances in genetic technology were described for diagnosing PWS specifically DNA methylation and high-resolution chromosomal SNP microarrays as current tools for genetic screening and incorporating next generation DNA sequencing for noninvasive prenatal testing (NIPT) using cell-free fetal DNA. Positive experiences are reported with NIPT for detection of numerical chromosomal problems (aneuploidies) but not for structural problems (microdeletions). These reports will be discussed along with future directions for genetic screening of PWS. In summary, this review describes and discusses the status of established and ongoing genetic testing options for PWS applicable in prenatal screening including NIPT and future directions for early diagnosis in PWS. © 2016 John Wiley & Sons, Ltd.
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