Department of Pediatrics, University of California, La Jolla, CA, USA.
Division of Neonatology, Rady Children's Hospital, San Diego, CA, USA.
J Perinatol. 2020 Jul;40(7):1007-1016. doi: 10.1038/s41372-020-0697-y. Epub 2020 May 29.
Genetic disorders presenting in the neonatal period can have a significant impact on morbidity and mortality. Early diagnosis can facilitate timely prognostic counseling to families and possibility of precision care, which could improve outcome. As availability of diagnostic testing expands, the required knowledge base of the neonatologist must also expand to include proper application and understanding of genetic testing modalities, especially where availability of clinical genetics consultation is limited. Herein, we review genetic tests utilized in the neonatal intensive care unit (NICU) providing background on the technology, clinical indications, advantages, and limitations of the tests. This review will span from classic cytogenetics to the evolving role of next generation sequencing and its impact on the management of neonatal disease.
新生儿期出现的遗传疾病会对发病率和死亡率产生重大影响。早期诊断可以为家庭提供及时的预后咨询，并有可能进行精准医疗，从而改善预后。随着诊断测试的可用性不断扩大，新生儿科医生所需的知识库也必须扩大，以包括对遗传测试方式的正确应用和理解，特别是在临床遗传学咨询可用性有限的情况下。在此，我们将回顾新生儿重症监护病房（NICU）中使用的遗传测试，提供有关技术、临床适应症、测试的优缺点的背景信息。本综述将涵盖经典细胞遗传学到下一代测序的不断发展的作用及其对新生儿疾病管理的影响。
