Wojcik Monica H, Del Rosario Maya C, Feldman Henry A, Smith Hadley Stevens, Holm Ingrid A
Division of Newborn Medicine and Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA.
Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA.
medRxiv. 2024 Jul 1:2024.06.29.24309646. doi: 10.1101/2024.06.29.24309646.
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.
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.
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.
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.
许多遗传疾病出现在新生儿重症监护病房（NICU），在此会进行诊断评估。然而，对于这些婴儿而言，遗传诊断对临床结局和健康相关生活质量的影响仍未完全明确。因此，我们对一组在NICU接受遗传评估的婴儿进行了为期一年的评估，以家长报告的结局为补充，并结合临床结局指标。
前瞻性队列研究，通过家长报告和电子病历（EMR）审查评估在四级NICU进行遗传学咨询后的结局。符合条件的婴儿在入组时未得到遗传学诊断。在基线以及入组后的3个月、6个月和12个月进行家长调查，使用婴幼儿生活质量问卷评估基因检测的效用以及家长报告的婴儿健康相关生活质量。
共纳入110对婴儿-家长对。婴儿入组时的中位年龄为15天（四分位间距8 - 37.75）。基线时，74%（81/110）的家长认可找到遗传诊断的高度重要性，但随着时间推移，这种认知的重要性显著降低。在研究期间，根据家长报告，38名婴儿获得了分子诊断，不过这与EMR审查结果不一致。在大多数领域，诊断的确定对健康相关生活质量没有显著影响，总体上低于人群标准。
NICU的家长非常希望获得遗传诊断，尽管随着时间推移，未确诊家庭的兴趣减弱可能反映了家长的情绪适应和接受情况。需要额外的支持来提高感知到的生活质量。
