Prevalence and risk of Down syndrome in monozygotic and dizygotic multiple pregnancies in Europe: implications for prenatal screening.
Prevalence and risk of Down syndrome in monozygotic and dizygotic multiple pregnancies in Europe: implications for prenatal screening.
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DOI：
10.1111/1471-0528.12574
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发表时间：
2014-06
期刊：
影响因子：
--
通讯作者：
Dolk H
中科院分区：
文献类型：
--
作者：
Boyle B;Morris JK;McConkey R;Garne E;Loane M;Addor MC;Gatt M;Haeusler M;Latos-Bielenska A;Lelong N;McDonnell R;Mullaney C;O'Mahony M;Dolk H
确定多胎妊娠与单胎妊娠发生唐氏综合征（DS）的风险，并比较产前诊断率和妊娠结局。基于EUROCAT先天性异常登记的人群患病率研究。八个欧洲国家。1990-2009年出生1480万；2.89%多胎。DS病例包括活产、20周后胎儿死亡和胎儿异常终止妊娠（TOPFA）。合子性是根据出生分母的相似/不同性别推断出来的，从DS病例的一致性推断出来的。多胎妊娠与单胎妊娠、单胎妊娠与单胎妊娠的相对风险（RR）。产前诊断与妊娠结局的比例。泊松和logistic回归对产妇年龄、国家和时间进行分层。总体而言，多胎妊娠与单胎妊娠的胎儿/婴儿DS的调整（adj） RR为0.58 (95% CI 0.53-0.62)，除了44岁以上的母亲外，所有年龄的母亲的DS都相似，44岁以上的母亲的DS要低得多。在8.7%患有退行性痴呆的双胞胎中，双胞胎都被诊断患有退行性痴呆。单胎妊娠与单胎妊娠DS的adjRR为0.34 (95% CI 0.25-0.44)，双胎妊娠与单胎妊娠DS的adjRR为1.34 （95% CI 1.23-1.46）。多胎DS胎儿产前诊断的可能性低于单胎（adjOR 0.62 [95% CI 0.50-0.78]），诊断后发生TOPFA的可能性较低（adjOR 0.40 [95% CI 0.27-0.59]）。多胎妊娠中每个胎儿/婴儿患DS的风险低于单胎妊娠。这些估计数可用于遗传咨询和产前筛查。
To determine risk of Down syndrome (DS) in multiple relative to singleton pregnancies, and compare prenatal diagnosis rates and pregnancy outcome. Population-based prevalence study based on EUROCAT congenital anomaly registries. Eight European countries. 14.8 million births 1990–2009; 2.89% multiple births. DS cases included livebirths, fetal deaths from 20 weeks, and terminations of pregnancy for fetal anomaly (TOPFA). Zygosity is inferred from like/unlike sex for birth denominators, and from concordance for DS cases. Relative risk (RR) of DS per fetus/baby from multiple versus singleton pregnancies and per pregnancy in monozygotic/dizygotic versus singleton pregnancies. Proportion of prenatally diagnosed and pregnancy outcome. Poisson and logistic regression stratified for maternal age, country and time. Overall, the adjusted (adj) RR of DS for fetus/babies from multiple versus singleton pregnancies was 0.58 (95% CI 0.53–0.62), similar for all maternal ages except for mothers over 44, for whom it was considerably lower. In 8.7% of twin pairs affected by DS, both co-twins were diagnosed with the condition. The adjRR of DS for monozygotic versus singleton pregnancies was 0.34 (95% CI 0.25–0.44) and for dizygotic versus singleton pregnancies 1.34 (95% CI 1.23–1.46). DS fetuses from multiple births were less likely to be prenatally diagnosed than singletons (adjOR 0.62 [95% CI 0.50–0.78]) and following diagnosis less likely to be TOPFA (adjOR 0.40 [95% CI 0.27–0.59]). The risk of DS per fetus/baby is lower in multiple than singleton pregnancies. These estimates can be used for genetic counselling and prenatal screening.
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影响因子：
6.3
作者：
DOYLE, PE;BERAL, V;WALE, CJ
通讯作者：
WALE, CJ
影响因子：
7.1
作者：
Madsen, H. N.;Ball, S.;Spencer, K.
通讯作者：
Spencer, K.
DOI：
10.1002/bdra.10093
发表时间：
2003-10-01
影响因子：
--
作者：
Li, SJ;Ford, N;Bodurtha, J
通讯作者：
Bodurtha, J
DOI：
10.1111/1471-0528.12146
发表时间：
2013-05-01
影响因子：
5.8
作者：
Boyle, B.;McConkey, R.;Dolk, H.
通讯作者：
Dolk, H.
影响因子：
6.1
作者：
Glinianaia, S. V.;Rankin, J.;Wright, C.
通讯作者：
Wright, C.