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Updates in Trisomy 18.

Keerthana Srinivasan1, Christian Canarte1, Samuel David Amio Valientes2

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Trisomy 18, once considered a lethal condition, now shows improved long-term outcomes in newborns due to increased medical interventions. This review updates understanding of trisomy 18 (Edwards syndrome) and guides future care.

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Area of Science:

  • Genetics
  • Pediatrics
  • Medical Genetics

Background:

  • Aneuploidies are common pediatric genetic abnormalities, with trisomies 13, 18, and 21 being the most prevalent.
  • Trisomies 13 and 18 have historically been associated with high morbidity and mortality, often labeled as "lethal" conditions.
  • Trisomy 21 (Down syndrome) has well-documented long-term outcomes, unlike trisomies 13 and 18.

Purpose of the Study:

  • To review the clinical manifestations of trisomy 18 syndrome.
  • To explore updated long-term outcomes for newborns with trisomy 18.
  • To provide guidance for future medical surveillance in trisomy 18.

Main Methods:

  • Literature review of clinical manifestations and outcomes.
  • Analysis of trends in postnatal intervention and shared decision-making.
  • Synthesis of current evidence on long-term survival and quality of life.

Main Results:

  • Evidence indicates that long-term outcomes for newborns with trisomy 18 are improving.
  • Increased postnatal interventions, driven by family-centered care, contribute to better outcomes.
  • Historical perceptions of trisomy 18 as uniformly "lethal" are being challenged by emerging data.

Conclusions:

  • Trisomy 18 is not uniformly a "lethal" condition, with improving survival rates.
  • Shared decision-making between families and medical teams is crucial for enhancing outcomes.
  • Updated medical surveillance strategies are needed for the growing population of individuals with trisomy 18.