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Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants

Monica H Wojcik1,2, Maya C Del Rosario1,2, Henry A Feldman3

  • 1Division of Newborn Medicine.

Pediatrics
|November 8, 2024
PubMed

Insights

Parents highly value genetic diagnoses for NICU infants, but this importance wanes over time. A genetic diagnosis did not significantly improve infant quality of life, indicating a need for better support.

Area of Science:

  • Medical Genetics
  • Neonatal Care
  • Pediatric Health Outcomes

Background:

  • Genetic conditions frequently manifest in the Neonatal Intensive Care Unit (NICU).
  • The impact of genetic diagnoses on clinical outcomes and quality of life for NICU infants is not fully understood.
  • Evaluating parent-reported and clinical outcomes is crucial for understanding the patient journey.

Purpose of the Study:

  • To assess the impact of genetic diagnoses on clinical and parent-reported outcomes in NICU infants over one year.
  • To evaluate parent-reported infant health-related quality of life (HRQoL) following genetic evaluation.
  • To understand the perceived utility and importance of genetic testing from the parents' perspective.

Main Methods:

  • Prospective cohort study involving 110 infant-parent pairs in a level IV NICU.
  • Parent surveys administered at baseline and 3, 6, and 12 months post-enrollment.
  • Utilized the Infant Toddler Quality of Life Questionnaire (ITQOL) and electronic medical record review.

Main Results:

  • Parental desire for a genetic diagnosis was high at baseline (74%) but decreased over time.
  • A molecular diagnosis was reported for 38 infants, with discrepancies noted between parent reports and medical records.
  • Identification of a genetic diagnosis did not significantly improve infant HRQoL, which remained below population norms.

Conclusions:

  • While initially desired, parental interest in genetic diagnoses may decrease over time, possibly due to emotional adaptation.
  • Current genetic diagnostic approaches do not significantly enhance the perceived quality of life for NICU infants.
  • Enhanced support systems are necessary to improve the perceived quality of life for these infants and their families.
Abstract

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