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Surveillance guidelines for children with trisomy 13.

Jeffrey W Kepple1, Kristen P Fishler2, Eric S Peeples3

  • 1School of Medicine, Creighton University, Omaha, Nebraska, USA.

American Journal of Medical Genetics. Part A
|March 12, 2021
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Summary

Trisomy 13 (T13) infants face high mortality due to congenital issues, but survival is increasing with medical interventions. This review details T13 complications to guide care for these children.

Keywords:
Patau syndromemanagementscreening

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Area of Science:

  • Genetics
  • Pediatrics
  • Medical Genetics

Background:

  • Trisomy 13 (T13) is a common aneuploidy syndrome with high infant mortality, primarily due to severe congenital abnormalities.
  • While cardiac issues are documented, T13 patients experience a wide range of other complications affecting quality of life.

Purpose of the Study:

  • To provide a comprehensive overview of complications in children with trisomy 13.
  • To assist in developing monitoring and treatment guidelines for healthcare providers caring for T13 patients.
  • To present screening recommendations for early detection of T13-related issues.

Main Methods:

  • Literature review of existing studies on trisomy 13 complications.
  • Synthesis of information on cardiac, respiratory, neurological, genitourinary, abdominal, otolaryngologic, and orthopedic issues.
  • Identification of evidence-based screening recommendations.

Main Results:

  • Trisomy 13 is associated with significant mortality and morbidity, largely from congenital defects.
  • Increasing medical interventions are improving survival rates for infants with T13.
  • A broad spectrum of non-cardiac complications impacts the health and quality of life of T13 patients.

Conclusions:

  • Comprehensive understanding of T13 complications is crucial for effective patient management.
  • Development of standardized monitoring and treatment guidelines is needed.
  • Early screening and documentation of complications can improve outcomes for children with trisomy 13.