School of Medicine, Creighton University, Omaha, Nebraska, USA.
Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska, USA.
Am J Med Genet A. 2021 May;185(5):1631-1637. doi: 10.1002/ajmg.a.62133. Epub 2021 Mar 11.
Trisomy 13 is one of the three most common aneuploidy syndromes in live-born infants. It is associated with mortality rates as high as 90% within the first year of life, in large part, due to the high prevalence of severe congenital abnormalities that increase mortality and morbidity. However, life-saving and life-prolonging medical interventions are being performed at a higher rate for these infants, resulting in increased rates of survival. Although cardiac complications have been well described in infants with trisomy 13, these patients also experience other complications such as respiratory, neurological, genitourinary, abdominal, otolaryngologic, and orthopedic complications that can impact their quality of life. The goal of this review is to present a comprehensive description of complications in children with trisomy 13 to aid in the development of monitoring and treatment guidelines for the increasing number of providers who will be caring for these patients throughout their lives. Where the evidence is available, this review presents screening recommendations to allow for more rapid detection and documentation of these complications.
三体 13 是活产婴儿中最常见的三种非整倍体综合征之一。它与第一年高达 90%的死亡率相关，主要是由于严重的先天性异常的高患病率增加了死亡率和发病率。然而，这些婴儿正在接受更高比例的救生和延长生命的医疗干预，导致存活率增加。尽管三体 13 婴儿的心脏并发症已有很好的描述，但这些患者还会出现其他并发症，如呼吸、神经、泌尿生殖、腹部、耳鼻喉和骨科并发症，这些并发症会影响他们的生活质量。本综述的目的是全面描述三体 13 患儿的并发症，以帮助制定监测和治疗指南，为越来越多的将在其一生中照顾这些患者的提供者提供指导。在有证据的情况下，本综述提出了筛查建议，以更快速地发现和记录这些并发症。
