Open Access

Possibility of early diagnosis in a fetus affected by Prader‑Willi syndrome with maternal hetero‑UPD15: A lesson to be learned

  • Authors:
    • Yanling Dong
    • Shu Liu
    • Junnan Li
    • Jian Li
    • Qian Chen
    • Jianyun Luo
    • Chunlei Li
    • Huifan Li
    • Hongbo Qi
    • Rong Li
  • View Affiliations

  • Published online on: May 15, 2019     https://doi.org/10.3892/mmr.2019.10246
  • Pages: 95-102
  • Copyright: © Dong et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Prader‑Willi syndrome (PWS), a complicated neurodevelopmental disorder arising from errors in genomic imprinting, is characterized by evident hypotonia along with feeding difficulties and the absence of crying in early infancy. Hyperphagia and obesity are not uncommon in patients with PWS, usually accompanied by intellectual disability, cognitive impairment, short stature, small hands and feet, as well as hypogonadism and typical facial features. Due to the severe complications associated with PWS, a thorough understanding of its features and an early diagnosis, preferably in the fetal period, are important for clinical management. According to previous studies, prenatal diagnosis has been confirmed in only a few cases of PWS, using ultrasound, or as an accidental finding by cytogenetic molecular techniques, as no precise fetal phenotype has been defined. In this present study, an infant with PWS arising from maternal heterodisomy of chromosome 15 is described. This is a typical case of missed diagnosis by fetal ultrasound examination, chromosome karyotype analysis and chromosome microarray (CMA) conducted during the pregnancy. To delineate the complex prenatal characteristics of a fetus with PWS, prenatally‑diagnosed cases of PWS described in the literature were reviewed. This present study indicated that although prenatal signs are not sufficient for a diagnosis to be confirmed, a comprehensive consideration of these signs is important in leading to a diagnosis of suspected PWS, and thus prompts further prenatal investigations using molecular genetic tools. Furthermore, this present study also suggested that CMA can lead to a missed diagnosis of PWS/Angelman syndrome and other imprinting disorders despite its high value in the detection of copy‑number variants in individuals with developmental delay. If clinical signs strongly suggest PWS, other prenatal molecular genetic investigations, including methylation tests and short tandem repeat‑based linkage analysis for uniparental disomy, are recommended as an additional tool to aid diagnosis.
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July-2019
Volume 20 Issue 1

Print ISSN: 1791-2997
Online ISSN:1791-3004

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Copy and paste a formatted citation
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Spandidos Publications style
Dong Y, Liu S, Li J, Li J, Chen Q, Luo J, Li C, Li H, Qi H, Li R, Li R, et al: Possibility of early diagnosis in a fetus affected by Prader‑Willi syndrome with maternal hetero‑UPD15: A lesson to be learned. Mol Med Rep 20: 95-102, 2019.
APA
Dong, Y., Liu, S., Li, J., Li, J., Chen, Q., Luo, J. ... Li, R. (2019). Possibility of early diagnosis in a fetus affected by Prader‑Willi syndrome with maternal hetero‑UPD15: A lesson to be learned. Molecular Medicine Reports, 20, 95-102. https://doi.org/10.3892/mmr.2019.10246
MLA
Dong, Y., Liu, S., Li, J., Li, J., Chen, Q., Luo, J., Li, C., Li, H., Qi, H., Li, R."Possibility of early diagnosis in a fetus affected by Prader‑Willi syndrome with maternal hetero‑UPD15: A lesson to be learned". Molecular Medicine Reports 20.1 (2019): 95-102.
Chicago
Dong, Y., Liu, S., Li, J., Li, J., Chen, Q., Luo, J., Li, C., Li, H., Qi, H., Li, R."Possibility of early diagnosis in a fetus affected by Prader‑Willi syndrome with maternal hetero‑UPD15: A lesson to be learned". Molecular Medicine Reports 20, no. 1 (2019): 95-102. https://doi.org/10.3892/mmr.2019.10246