Departent of Pathology and Laboratory Medicine, Dalhousie University, Halifax, NS; Department of Obstetrics and Gynaecology, Dalhousie University, Halifax, NS.
Department of Obstetrics and Gynaecology, University of Calgary, Calgary, AB.
J Obstet Gynaecol Can. 2021 May;43(5):583-588. doi: 10.1016/j.jogc.2020.09.019. Epub 2020 Oct 6.
To understand the risks associated with trisomy 21 in pregnancy in order to inform obstetrical care and improve outcomes.
A population-based retrospective cohort study was undertaken of all pregnancies involving a fetus with trisomy 21 in Nova Scotia, Canada, from 2000 to 2019. Cases were identified from the provincial laboratory genetics database, linked to the Nova Scotia Atlee Perinatal Database for pregnancy outcomes, and compared with the general obstetrical population.
A total of 350 pregnancies were identified, of which 23% were ongoing pregnancies in which trisomy 21 was diagnosed prenatally and 24% involved diagnoses made after delivery. Compared with the general obstetrical population, women with ongoing pregnancies affected by trisomy 21 were more likely to be older (mean age 34 vs. 29 y), multiparous (67% vs. 55%), and in a relationship (79% vs. 68%). Trisomy 21 was associated with a significantly increased risk of preterm birth (<37 weeks; 24.1% vs. 8.3%); small for gestational age (<10th percentile; 21.7% vs. 8.2%); cesarean delivery (31.5% vs. 27.1%); and combined perinatal/neonatal mortality (8.0% vs. 0.8%) (P < 0.001 for all).
Trisomy 21 is associated with significant adverse perinatal and neonatal risks. Population screening to identify trisomy 21 can be used to optimize perinatal outcomes with appropriate fetal surveillance in these pregnancies.
了解妊娠 21 三体相关风险，以便为产科护理提供信息并改善结局。
对 2000 年至 2019 年期间加拿大新斯科舍省所有涉及 21 三体胎儿的妊娠进行了一项基于人群的回顾性队列研究。病例从省级实验室遗传学数据库中确定，与新斯科舍阿特利围产数据库的妊娠结局相关联，并与一般产科人群进行比较。
共确定了 350 例妊娠，其中 23%为产前诊断为 21 三体的持续性妊娠，24%为产后诊断。与一般产科人群相比，持续性妊娠受 21 三体影响的妇女更有可能年龄较大（平均年龄 34 岁 vs. 29 岁）、多胎（67% vs. 55%）和处于恋爱关系中（79% vs. 68%）。21 三体与早产（<37 周；24.1% vs. 8.3%）、小于胎龄儿（<第 10 百分位数；21.7% vs. 8.2%）、剖宫产（31.5% vs. 27.1%）和围产儿/新生儿死亡率（8.0% vs. 0.8%）显著增加有关（所有 P < 0.001）。
21 三体与严重的围产期和新生儿不良风险相关。人群筛查以识别 21 三体可用于在这些妊娠中通过适当的胎儿监测优化围产期结局。
