The risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18
The risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18
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DOI：
10.1002/ajmg.a.32220
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发表时间：
2008-04-01
影响因子：
2
通讯作者：
Savva, George M.
中科院分区：
文献类型：
--
作者：
Morris, Joan K.;Savva, George M.
本研究的目的是确定 13 三体（T13；帕陶综合征）或 18 三体（T18；爱德华兹综合征）产前诊断后胎儿流产（自然流产或死产）的风险。英格兰和威尔士的五个地区先天性异常登记册提供了 198 例产前诊断为 T13 的妊娠和 538 例产前诊断为 T18 的妊娠结果的详细信息。对于每次妊娠，计算从产前诊断到发生出生、流产或终止的时间，并使用 Kaplan-Meier 生存函数对这些时间进行分析。我们的结果显示，在妊娠 12 周至足月期间，估计有 49%（95% CI：29-73%）诊断为 T13 的妊娠和 72%（61-81%）诊断为 T18 的妊娠以流产或死产告终。从第 18 周到足月，T13 的比例为 42% (18-72%)，T18 为 65% (57-79%)；从 24 周到足月，T13 的比例为 35% (5-70%)，T18 的比例为 59% (49-77%)。患有 T18 的男性胎儿似乎比女性胎儿更容易流产。这些是目前对普通人群损失风险最精确的估计。这些估计值应该有助于为怀有受影响胎儿的妇女提供咨询，并且了解胎儿丢失的风险对于比较妊娠早期和中期进行的产前筛查计划的表现至关重要。 (c) 2008 年 Wiley-Liss, Inc.
The objective of this study is to determine the risk of fetal loss (spontaneous abortion or stillbirth) following a prenatal diagnosis of trisomy 13 (T13; Patau syndrome) or trisomy 18 (T18; Edwards syndrome). Five regional congenital anomaly registers in England and Wales provided details on the outcomes of 198 pregnancies prenatally diagnosed with T13 and 538 prenatally diagnosed with T18. For each pregnancy the time from prenatal diagnosis until birth, miscarriage or termination occurred was calculated and these times were analyzed using Kaplan-Meier survival functions. Our results showed that between 12 weeks gestation and term an estimated 49% (95% CI: 29-73%) of pregnancies diagnosed with T13 and 72% (61-81%) of pregnancies diagnosed with T18 ended in a miscarriage or stillbirth. Between 18 weeks and term the proportions were 42% (18-72%) for T13 and 65% (57-79%) for T18 and between 24 weeks and term the proportions were 35% (5-70%) for T13 and 59% (49-77%) for T18. Male fetuses with T18 appeared to be more likely to be lost than female fetuses. These are the most precise estimates currently available for the risk of loss in a general population. These estimates should be useful in counseling women who are carrying an affected fetus and knowing the risk of fetal loss is essential to compare the performance of prenatal screening programs occurring in the first and second trimester. (c) 2008 Wiley-Liss, Inc.