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首页> 外文期刊>American journal of medical genetics, Part A >Revised estimates of the risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18
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Revised estimates of the risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18

机译：在Trisomy 13或Trisomy 18的产前诊断后修订胎儿损失风险的估计

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Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13) both have high natural fetal loss rates. The aim of this study was to provide estimates of these fetal loss rates by single gestational week of age using data from the National Down Syndrome Cytogenetic Register. Data from all pregnancies with Edwards or Patau syndrome that were prenatally detected in England and Wales from 2004 to 2014 was analyzed using Kaplan‐Meier survival estimates. Pregnancies were entered into the analysis at the time of gestation at diagnosis, and were considered “under observation” until the gestation at outcome. There were 4088 prenatal diagnoses of trisomy 18 and 1471 of trisomy 13 in the analysis. For trisomy 18, 30% (95%CI: 25‐34%) of viable fetuses at 12 weeks will result in a live birth and at 39 weeks gestation 67% (60‐73%) will result in a live birth. For trisomy 13 the survival is 50% (41‐58%) at 12 weeks and 84% (73‐90%) at 39 weeks. There was no significant difference in survival between males and females when diagnosed at 12 weeks for trisomy 18 ( P ‐value?=?0.27) or trisomy 13 ( P ‐value?=?0.47). This paper provides the most precise gestational age‐specific estimates currently available for the risk of fetal loss in trisomy 13 and trisomy 18 pregnancies in a general population.
机译：Edwards综合征（Triusomy 18）和Patau综合征（三术13）都具有高的自然胎儿损失率。本研究的目的是利用来自国家羽绒性综合征细胞遗传学登记术的数据，通过单一妊娠周的单一妊娠周提供这些胎儿损失率的估计。使用Kaplan-Meier Survival估计分析了来自2004年至2014年的英国和威尔士在英格兰和威尔士的所有怀孕的数据进行了分析。在诊断时在妊娠时进入分析的怀孕，并被认为是“观察到”，直到妊娠结局。在分析中，三元构的三元18和1471的特异性诊断有4088个产前诊断。对于Trisomy 18,30％（95％CI：25-34％）在12周内将导致活产出生，并在39周内妊娠67％（60-73％）将导致生育。对于三兆数13，生存率在12周时为50％（41-58％），39周，84％（73-90％）。在12周的三颗粒18（p-value？= 0.27）或三术13（p-value？= 0.47）时，在12周内诊断患者之间的存活差异没有显着差异。本文提供了目前在三术13和一般人群中三元18次妊娠的胎儿损失风险的最精确的孕龄估计。

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