Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
J Paediatr Child Health. 2019 Nov;55(11):1309-1314. doi: 10.1111/jpc.14398. Epub 2019 Feb 12.
To investigate the diagnostic and service impact of chromosomal microarray and whole exome sequencing (WES) in a neonatal intensive care unit (NICU).
This was a retrospective medical record review of NICU patients referred for genetics consultation at three time points over a 9-year period at a single centre to determine referral indications, genetic consultation outcomes and time to diagnosis.
The number of NICU patients referred for genetics consultation increased from 44 in 2007 to 95 in 2015. The proportion of NICU patients suspected of having a genetic condition following clinical geneticist assessment remained stable, averaging 5.3% of all admissions. The proportion of patients receiving a confirmed diagnosis rose from 21% in 2007 to 53% in 2015, with a shift from primarily chromosomal abnormalities to a broad range of monogenic disorders, increasingly diagnosed by WES as a first-tier test. The average age at diagnosis in 2015 was 19 days (range 12-38 days) for chromosomal abnormalities and 138 days (range 10-309 days) for monogenic conditions.
The adoption of new genetic technologies at our centre has increased the proportion of patients receiving a confirmed genetic diagnosis. This study provides important benchmark data to measure further improvements as turn-around times for genomic testing decrease.
探讨染色体微阵列和全外显子组测序（WES）在新生儿重症监护病房（NICU）中的诊断和服务影响。
这是一项回顾性病历审查，对在一家中心的 9 年期间的三个时间点因遗传学咨询而被转介到新生儿重症监护病房的患者进行研究，以确定转介指征、遗传咨询结果和诊断时间。
NICU 患者因遗传学咨询而被转介的数量从 2007 年的 44 例增加到 2015 年的 95 例。经过临床遗传学家评估后，疑似患有遗传疾病的 NICU 患者比例保持稳定，平均占所有入院患者的 5.3%。接受确诊诊断的患者比例从 2007 年的 21%上升到 2015 年的 53%，从主要的染色体异常到广泛的单基因疾病，越来越多地通过 WES 作为一线测试进行诊断。2015 年的平均诊断年龄为染色体异常的 19 天（范围为 12-38 天）和单基因疾病的 138 天（范围为 10-309 天）。
我们中心采用新的遗传技术增加了接受确诊遗传诊断的患者比例。本研究提供了重要的基准数据，随着基因组测试的周转时间缩短，可进一步衡量改进情况。
