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Updated: Jun 21, 2025
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
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 and Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA.
Insights
Parents highly value genetic diagnoses for infants in the neonatal intensive care unit (NICU). However, a diagnosis did not significantly improve infant quality of life, suggesting a need for further support.
Area of Science:
- Medical Genetics
- Neonatal Care
- Pediatric Health Outcomes
Background:
- Genetic conditions are frequently diagnosed in the neonatal intensive care unit (NICU).
- The impact of genetic diagnoses on infant clinical outcomes and quality of life is not fully understood.
Purpose of the Study:
- To evaluate parent-reported and clinical outcomes for infants undergoing genetic evaluation in the NICU.
- To assess the impact of a genetic diagnosis on health-related quality of life over one year.
Main Methods:
- Prospective cohort study of 110 infants in a level IV NICU.
- Parent surveys assessed genetic testing utility and quality of life (Infant Toddler Quality of Life Questionnaire).
- Data collected via parent report and electronic medical records (EMR).
Main Results:
- Parents initially desired genetic diagnoses, but interest waned over time.
- 38 infants received a molecular diagnosis, with discrepancies between parent report and EMR.
- Diagnosis did not significantly improve health-related quality of life, which remained below population norms.
Conclusions:
- Genetic diagnoses are highly sought by NICU parents, though parental interest may decrease over time.
- Parental emotional adaptation may influence perceived importance of diagnosis.
- Additional support is necessary to enhance perceived quality of life for these infants.
Background And Objectives:
Many genetic conditions present in the neonatal intensive care unit (NICU), where a diagnostic evaluation is pursued. However, understanding of the impact of a genetic diagnosis on clinical outcomes and health-related quality of life for these infants remains incomplete. We therefore evaluated parent-reported outcomes complemented by clinical outcomes measures over one year for a cohort of infants in the NICU undergoing genetic evaluation.
Methods:
Prospective cohort study evaluating outcomes after genetics consultation in a level IV NICU via parent-report and electronic medical records (EMR) review. Eligible infants were genetically undiagnosed at enrollment. Parent surveys were administered at baseline and three, six-, and 12-months following enrollment and assessed genetic testing utility as well as parent-reported infant health-related quality of life using the Infant Toddler Quality of Life Questionnaire.
Results:
110 infant-parent pairs were enrolled. Infants had a median age at enrollment of 15 days (interquartile range 8-37.75). At baseline, 74% (81/110) of parents endorsed high importance of finding a genetic diagnosis, but perceived importance significantly decreased over time. Over the study period, 38 infants received a molecular diagnosis per parent report, though this was discordant with EMR review. Identification of a diagnosis did not significantly impact health-related quality of life across most domains, which was lower overall than population norms.
Conclusions:
A genetic diagnosis is highly desired by parents in the NICU, though waning interest over time for undiagnosed families may reflect parental emotional adaptation and acceptance. Additional supports are needed to improve perceived quality of life.
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