Division of Newborn Medicine.
Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.
Pediatrics. 2024 Dec 1;154(6). doi: 10.1542/peds.2024-068197.
Many genetic conditions present in the 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.
Prospective cohort study evaluating outcomes after genetics consultation in a level IV NICU via parent report and electronic medical record review. Eligible infants were genetically undiagnosed at enrollment. Parent surveys were administered at baseline and 3, 6, 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.
A total of 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, although this was discordant with electronic medical record review. Identification of a diagnosis did not significantly impact health-related quality of life across most domains, which was lower overall than population norms.
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.
许多遗传疾病都出现在新生儿重症监护病房（NICU），需要进行诊断评估。然而，对于这些婴儿的遗传诊断对临床结果和健康相关生活质量的影响，人们的理解仍不完整。因此，我们评估了接受遗传评估的 NICU 中一组婴儿的临床结果测量指标，并补充了父母报告的结果，以评估一年的结果。
通过父母报告和电子病历回顾，对 IV 级 NICU 中接受遗传学咨询的队列进行前瞻性队列研究。入组时符合条件的婴儿未被诊断出遗传疾病。在入组后 3、6 和 12 个月，通过父母调查评估遗传检测的效用，以及使用婴儿幼儿生活质量问卷评估父母报告的婴儿健康相关生活质量。
共纳入 110 对婴儿-父母。婴儿的入组年龄中位数为 15 天（四分位距 8-37.75）。在基线时，74%（81/110）的父母认为找到遗传诊断非常重要，但随着时间的推移，重要性的认知显著下降。在研究期间，根据父母报告，有 38 名婴儿接受了分子诊断，尽管这与电子病历审查结果不符。在大多数领域，诊断的确定并没有显著影响健康相关的生活质量，整体上低于人群正常值。
NICU 中的父母非常希望得到遗传诊断，但随着时间的推移，未被诊断的家庭兴趣减弱，这可能反映了父母的情绪适应和接受。需要额外的支持来提高感知的生活质量。
