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Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS)

Viktoriia Sofronova1,2, Lyutsiya Gotovtseva3, Anastasia Danilova1

  • 1Laboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, Russia.

Genes
|August 26, 2023
PubMed

Insights

Mucopolysaccharidosis-plus syndrome (MPSPS) diagnosis can be improved with prenatal ultrasonography and genetic testing. Early detection of MPSPS enables better planning for affected infants and families.

Area of Science:

  • Genetics
  • Medical Diagnostics
  • Prenatal Care

Background:

  • Mucopolysaccharidosis-plus syndrome (MPSPS) is a severe autosomal-recessive disorder caused by mutations in the VPS33A gene, leading to a shortened lifespan.
  • Currently, no specific treatments exist for MPSPS, highlighting the need for early diagnosis and management.
  • The Yakut population exhibits a higher prevalence of MPSPS, underscoring the importance of targeted screening.

Observation:

  • This study investigated two pregnancies, one with a prenatal diagnosis of MPSPS, neither with a prior family history.
  • Prenatal ultrasonography in both cases revealed increased prenasal thickness during the second trimester.
  • One case received a late diagnosis at 11 months, while the other achieved early diagnosis via genetic testing and placental biopsy.

Findings:

  • Prenatal ultrasonography, particularly the detection of increased prenasal thickness, is a crucial indicator for potential MPSPS diagnosis.
  • Combining ultrasonography with genetic testing (GT) facilitates early and accurate prenatal diagnosis of MPSPS.
  • Early diagnosis through integrated diagnostic approaches allows for timely intervention and management strategies.

Implications:

  • Early MPSPS diagnosis via combined ultrasonography and GT is vital for optimizing delivery planning and neonatal care.
  • This comprehensive diagnostic approach can significantly improve the quality of life for infants with MPSPS and their families.
  • Further research into MPSPS genetics and early detection methods is warranted to improve patient outcomes.
Keywords:
MPSPSVPS33Amucopolysaccharidosisprenatal diagnosisthe Yakuts

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