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Newborn screening for Prader-Willi syndrome is feasible: Early diagnosis for better outcomes

Ranim Mahmoud1,2, Preeti Singh3, Lan Weiss1

  • 1Department of Pediatrics, Division of Genetics and Metabolism, University of California, Irvine, California.

American Journal of Medical Genetics. Part A
|December 18, 2018
PubMed

Insights

Newborn screening for Prader-Willi syndrome (PWS) is feasible using DNA from filter paper. Methylation-specific PCR and MS-MLPA accurately diagnose PWS and identify deletion subtypes, enabling early detection.

Area of Science:

  • Genetics
  • Molecular Biology
  • Pediatrics

Background:

  • Prader-Willi syndrome (PWS) is a complex genetic disorder affecting chromosome 15q11-q13, leading to significant developmental and health issues.
  • Early diagnosis of PWS is crucial for timely intervention but is often delayed despite advances in genetic testing.

Purpose of the Study:

  • To assess the feasibility of diagnosing PWS using DNA from newborn screening (NBS) filter paper cards.
  • To evaluate the efficacy of methylation-specific PCR (mPCR) and MS-MLPA for PWS diagnosis and subtype identification.

Main Methods:

  • DNA was extracted from dried blood spots on NBS cards from 34 PWS patients and 16 controls.
  • PWS diagnosis was performed using methylation-specific PCR (mPCR) and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA).
  • Fragment analysis was used to determine methylation status and copy number variations.

Main Results:

  • Successful DNA extraction was achieved from 30 PWS patients and 16 controls.
  • PWS methylation testing correctly identified all PWS patients.
  • MS-MLPA accurately differentiated between deletion and non-deletion statuses and identified deletion subtypes (Type I and Type II).

Conclusions:

  • DNA extracted from NBS filter paper cards is suitable for PWS genetic testing.
  • mPCR and MS-MLPA are effective tools for diagnosing PWS and characterizing genetic alterations.
  • Integrating PWS testing into newborn screening panels is proposed as a viable strategy for early detection.

Keywords:
DNA methylationPrader-Willi syndromemultiplex ligand PCR analysisnewborn screening

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