Kaiser Permanente, San Jose Medical Center, San Jose, California, USA.
Am J Med Genet A. 2010 Feb;152A(2):360-6. doi: 10.1002/ajmg.a.33156.
Trisomies 21, 18, and 13 are the three most common trisomies among infants who survive to 20 weeks gestation or more. Overall information about birth prevalence, natural history, and mortality for all three trisomies is well defined, but information about ethnic-specific rates is limited. Only a few studies have examined mortality rates of trisomies 18 and 13 because so few cases are liveborn and most have very short life spans. This study assessed ethnic-specific population-based survival probabilities among infants for each trisomy. All cases of trisomies 21, 18, and 13 born in Texas between 1999 and 2003 were obtained from the Texas Birth Defects Registry and included 2,260 cases of trisomy 21, 398 cases of trisomy 18, and 213 cases of trisomy 13. Date and cause of death were obtained from the Texas vital statistics records and the National Death Index. Overall, birth prevalence rates (per 10,000 adjusted live births) for the three trisomies were 11.74 (95% CI: 11.25-12.25), 1.34 (95% CI: 1.18-1.52), 0.92 (95% CI: 0.79-1.07), respectively, and are consistent with previously reported rates. There were no differences in survival rates by ethnicity and the median survival for each trisomy was consistent with previous reports. The results of this study provide comprehensive population-based information for survival of infants with trisomies 21, 18, and 13.
三体 21、18 和 13 是在 20 周妊娠或以上存活的婴儿中最常见的三种三体。关于所有三种三体的出生流行率、自然史和死亡率的总体信息已经得到很好的定义,但关于特定种族的信息有限。只有少数研究检查了 18 号和 13 号三体的死亡率,因为活产的病例很少,而且大多数的寿命都非常短。本研究评估了每一种三体在德克萨斯州的特定种族的基于人口的婴儿存活率。1999 年至 2003 年间在德克萨斯州出生的所有 21 三体、18 三体和 13 三体病例均来自德克萨斯州出生缺陷登记处,包括 2260 例 21 三体、398 例 18 三体和 213 例 13 三体。死亡日期和原因从德克萨斯州生命统计记录和国家死亡指数中获得。总体而言,三种三体的出生流行率(每 10,000 例活产校正)分别为 11.74(95%CI:11.25-12.25)、1.34(95%CI:1.18-1.52)、0.92(95%CI:0.79-1.07),与之前报道的比率一致。不同种族之间的存活率没有差异,每一种三体的中位存活时间与之前的报告一致。本研究的结果为 21 三体、18 三体和 13 三体婴儿的存活提供了全面的基于人口的信息。