Dereddy Narendra R, Pivnick Eniko K, Upadhyay Kirtikumar, Dhanireddy Ramasubbareddy, Talati Ajay J
Division of Neonatology, Department of Pediatrics, University of Tennessee Health Sciences Center, Memphis, Tennessee.
Division of Clinical Genetics, Department of Pediatrics, Department of Ophthalmology, University of Tennessee Health Sciences Center, Memphis, Tennessee.
Am J Perinatol. 2017 Feb;34(3):270-275. doi: 10.1055/s-0036-1586753. Epub 2016 Aug 4.
Trisomy 18 is presumed to be a lethal chromosomal abnormality; medical management of infants with this aneuploidy is controversial. Our objective was to describe our approach and experience with trisomy 18 infants. We reviewed the initial hospital course, management, and factors predicting discharge from the hospital from two large tertiary care neonatal intensive care units in the southern United States over 26 years. Of the 29 infants with trisomy 18, 21 (72%) died in the hospital and 8 (28%) were discharged home. 19 (66%) infants received mechanical ventilation and 10 (34%) received inotropic medications. Eight infants had critical congenital heart defects; only one survived to discharge. Three infants underwent major surgeries; one cardiac surgery, one tracheoesophageal fistula repair, and one myelomeningocele repair. Median length of hospital stay was 14 days (range, 0-78) for all the infants and 31 days (range, 18-66) for those that were discharged home. Factors associated with discharge from the hospital were female sex, higher gestational age, and absence of critical congenital heart defects. Median survival time was 13 days and was significantly longer for females compared with males. Our 1-month and 1-year survival rates were 31% and 3.9% respectively. A significant proportion of infants with trisomy 18 were discharged home. These data are helpful in counseling parents of infants with trisomy 18.
18三体综合征被认为是一种致死性染色体异常;对患有这种非整倍体疾病的婴儿进行医学治疗存在争议。我们的目的是描述我们对18三体综合征婴儿的治疗方法和经验。我们回顾了美国南部两家大型三级医疗新生儿重症监护病房26年来收治的18三体综合征婴儿的初始住院过程、治疗情况以及预测出院的因素。在29例18三体综合征婴儿中,21例(72%)在医院死亡,8例(28%)出院回家。19例(66%)婴儿接受了机械通气,10例(34%)接受了强心药物治疗。8例婴儿患有严重先天性心脏病;只有1例存活至出院。3例婴儿接受了大手术;1例心脏手术、1例食管气管瘘修补术和1例脊髓脊膜膨出修补术。所有婴儿的中位住院时间为14天(范围0 - 78天),出院回家的婴儿中位住院时间为31天(范围18 - 66天)。与出院相关的因素包括女性性别、较高的孕周以及无严重先天性心脏病。中位生存时间为13天,女性明显长于男性。我们的1个月和1年生存率分别为31%和3.9%。相当一部分18三体综合征婴儿出院回家。这些数据有助于为18三体综合征婴儿的父母提供咨询。