Congenital Anomalies Associated with Trisomy 18 or Trisomy 13: A Registry-Based Study in 16 European Countries, 2000-2011
Congenital Anomalies Associated with Trisomy 18 or Trisomy 13: A Registry-Based Study in 16 European Countries, 2000-2011
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DOI：
10.1002/ajmg.a.37355
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发表时间：
2015-12-01
影响因子：
2
通讯作者：
Morris, Joan K.
中科院分区：
文献类型：
--
作者：
Springett, Anna;Wellesley, Diana;Morris, Joan K.
本研究的目的是检查欧洲18和13三体的患病率以及相关异常的患病率。16个欧洲国家的25个基于人口的登记中心提供了2000-2011年的数据。病例包括活产、胎儿死亡（妊娠20周以上）和因胎儿异常终止妊娠（TOPFA）。报告了活产婴儿相关畸形的患病率。18三体和13三体的患病率分别为4.8（95%CI：4.7-5.0）和1.9（95%CI：1.8-2.0）/10，000例总出生。73%的18三体或13三体病例导致TOPFA。在468例18三体活产婴儿中，80%（76-83%）有心脏异常，21%（17-25%）有神经系统异常，8%（6-11%）有食管闭锁，10%（8-13%）有口面裂。在240例13三体活产婴儿中，57%（51-64%）有心脏异常，39%（33-46%）有神经系统异常，30%（24-36%）有眼睛异常，44%（37-50%）有多指畸形，45%（39-52%）有口面裂。对于18三体的婴儿，与女孩相比，男孩患心脏异常的可能性较小（OR = 0.48（0.30-0.77）），而13三体的婴儿患神经系统异常的可能性较小[OR = 0.46（0.27-0.77）]。患有18三体或13三体的婴儿确实有很高比例的相关异常，异常的分布在男孩和女孩中不同。(C)2015 Wiley Periodicals，Inc.
The aim of this study was to examine the prevalence of trisomies 18 and 13 in Europe and the prevalence of associated anomalies. Twenty-five population-based registries in 16 European countries provided data from 2000-2011. Cases included live births, fetal deaths (20+ weeks' gestation), and terminations of pregnancy for fetal anomaly (TOPFAs). The prevalence of associated anomalies was reported in live births. The prevalence of trisomy 18 and trisomy 13 were 4.8 (95% CI: 4.7-5.0) and 1.9 (95% CI: 1.8-2.0) per 10,000 total births. Seventy three percent of cases with trisomy 18 or trisomy 13 resulted in a TOPFA. Amongst 468 live born babies with trisomy 18, 80% (76-83%) had a cardiac anomaly, 21% (17-25%) had a nervous system anomaly, 8% (6-11%) had esophageal atresia and 10% (8-13%) had an orofacial cleft. Amongst 240 Live born babies with trisomy 13, 57% (51-64%) had a cardiac anomaly, 39% (33-46%) had a nervous system anomaly, 30% (24-36%) had an eye anomaly, 44% (37-50%) had polydactyly and 45% (39-52%) had an orofacial cleft. For babies with trisomy 18 boys were less likely to have a cardiac anomaly compared with girls (OR = 0.48 (0.30-0.77) and with trisomy 13 were less likely to have a nervous system anomaly [OR = 0.46 (0.27-0.77)]. Babies with trisomy 18 or trisomy 13 do have a high proportion of associated anomalies with the distribution of anomalies being different in boys and girls. (C) 2015 Wiley Periodicals, Inc.