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Benefits and limitations of prenatal screening for Prader-Willi syndrome

Merlin G Butler1

  • 1Departments of Psychiatry and Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, KS, USA.

Prenatal Diagnosis
|August 19, 2016
PubMed

Insights

This review covers genetic testing for Prader-Willi syndrome (PWS), detailing current and emerging methods for prenatal screening. It highlights DNA methylation, SNP microarrays, and noninvasive prenatal testing (NIPT) for early PWS diagnosis.

Area of Science:

  • Genetics
  • Molecular Biology
  • Prenatal Diagnostics

Background:

  • Prader-Willi syndrome (PWS) is a complex genetic disorder.
  • PWS is most commonly caused by a deletion on chromosome 15 (15q11-q13) inherited from the father.
  • Accurate genetic subtyping is crucial for understanding PWS and guiding management.

Purpose of the Study:

  • To review the current landscape of genetic laboratory testing for Prader-Willi syndrome.
  • To discuss the utility and limitations of various genetic testing methods for prenatal screening of PWS.
  • To explore advancements in genetic technology for early PWS diagnosis.

Main Methods:

  • Literature search for prenatal screening and genetic testing methods related to PWS.
  • Summary of established diagnostic approaches, including ultrasonography, cytogenetics, and DNA methylation analysis.
  • Evaluation of advanced techniques like SNP microarrays and next-generation sequencing for noninvasive prenatal testing (NIPT).

Main Results:

  • Six established genetic laboratory tests are applicable to prenatal screening for PWS.
  • DNA methylation analysis and SNP microarrays are current tools for genetic screening.
  • Noninvasive prenatal testing (NIPT) shows promise for PWS detection, particularly for numerical chromosomal abnormalities, but not structural ones like microdeletions.

Conclusions:

  • Established and emerging genetic testing options, including NIPT, are available for prenatal screening of PWS.
  • Continued advancements in genetic technology are paving the way for earlier and more accurate diagnosis of PWS.
  • Future research should focus on refining NIPT for detecting microdeletions associated with PWS.

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