Perinatal Institute, Division of Neonatology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, University of Cincinnati, Cincinnati, Ohio, USA.
Am J Med Genet A. 2021 Feb;185(2):336-343. doi: 10.1002/ajmg.a.61948. Epub 2020 Oct 31.
Limited knowledge exists about how frequently newborns with Down syndrome receive a prenatal diagnosis, require intensive care, and what surgical and medical factors are contributory. A retrospective cohort study was performed for patients with a diagnosis of Down syndrome born in 2013 and 2014 who sought care at Cincinnati Children's Hospital Medical Center during the first year of life. Data were extracted from the electronic medical record through the first year of life including need for intensive care as a newborn, prenatal diagnosis, and medical and surgical complications. Of the 129 patients in the study, 65% required intensive care as newborns. The presence of a structural abnormality that required surgical correction in the neonatal period and certain types of congenital heart disease not requiring surgical intervention in the neonatal period were positively associated with the need for intensive care. A minority of infants, 8%, had a confirmed prenatal diagnosis. A majority of newborns with Down syndrome required intensive care following birth while a minority had any concern for the diagnosis prenatally. Improving prenatal diagnostic rates would allow for better prenatal counseling and delivery planning, while targeting therapeutic interventions for this population is needed to improve outcomes.
关于唐氏综合征新生儿接受产前诊断的频率、需要重症监护的频率以及哪些手术和医疗因素起作用,目前相关知识有限。对 2013 年和 2014 年在辛辛那提儿童医院医疗中心就诊的唐氏综合征患儿进行了回顾性队列研究。通过第一年的电子病历提取数据,包括新生儿重症监护、产前诊断以及医疗和手术并发症的需求。在研究的 129 名患者中,65%的患儿需要新生儿重症监护。需要在新生儿期进行手术矫正的结构异常和某些不需要在新生儿期进行手术干预的先天性心脏病与需要重症监护呈正相关。少数婴儿(8%)有明确的产前诊断。大多数唐氏综合征新生儿在出生后需要重症监护,而少数新生儿在产前有任何诊断问题。提高产前诊断率可以为产前咨询和分娩计划提供更好的支持,而针对该人群的治疗干预措施也需要改进结果。