Antenatal detection of Edwards (Trisomy 18) and Patau (Trisomy 13) syndrome: England and Wales 2005-2012
Antenatal detection of Edwards (Trisomy 18) and Patau (Trisomy 13) syndrome: England and Wales 2005-2012
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Edwards（18 三体）和 Patau（13 三体）综合征的产前检测：英格兰和威尔士 2005-2012 年
DOI：
10.1177/0969141314543128
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发表时间：
2014
影响因子：
2.9
通讯作者：
J. Morris
中科院分区：
文献类型：
--
作者：
A. Springett;J. Morris
目的妊娠合并爱德华兹综合征或帕托综合征常通过唐氏综合征筛查发现。我们的目的是评估唐氏综合征筛查对活产患病率和产前诊断爱德华兹综合征和帕托综合征的影响。英格兰和威尔士，2005年至2012年。方法对来自国家唐氏综合征细胞遗传学登记处的数据进行分析，该登记处包含几乎所有产前或产后诊断的Edwards或Patau综合征病例的信息，其中核型得到证实。结果从2005年到2012年，记录了3，941例Edwards综合征和1，567例Patau综合征的诊断（患病率分别为7.0/10，000和2.8/10，000）。只有11%（95%置信区间[CI]：10-12）的Edwards综合征和13%（95% CI：11-14）的Patau综合征诊断为活产，导致活产患病率分别为每10，000例活产0.8（95% CI：0.7-0.8）和0.4（95% CI：0.3-0.4）。大约90%的爱德华兹综合征或帕托综合征孕妇在产前被诊断出来，这一比例随着时间的推移保持不变。15周前检测到的诊断比例从2005年的50%增加到2012年的53%，爱德华兹综合征从2005年的41%增加到2012年的63%。结论：每年约有700例妊娠合并Edwards或Patau综合征。超过90%的这些妊娠在产前被发现，随着孕早期唐氏综合征筛查的使用增加，导致这些综合征诊断时的平均胎龄减少。
Objectives Pregnancies with Edwards or Patau syndrome are often detected through screening for Down’s syndrome. We aimed to evaluate the impact of screening for Down’s syndrome on the prevalence of live births and antenatal diagnoses of Edwards and Patau syndrome. Setting England and Wales, 2005 to 2012. Methods Data from the National Down Syndrome Cytogenetic Register, which contains information on nearly all ante- or postnatally diagnosed cases of Edwards or Patau syndrome in which a karyotype was confirmed, were analysed. Results From 2005 to 2012, 3,941 diagnoses of Edwards syndrome and 1,567 diagnoses of Patau syndrome were recorded (prevalence of 7.0 and 2.8 per 10,000 births respectively). Only 11% (95% confidence interval [CI]: 10–12) of diagnoses of Edwards syndrome and 13% (95% CI: 11–14) of Patau syndrome were live births, resulting in live birth prevalences of 0.8 (95% CI: 0.7–0.8) and 0.4 (95% CI: 0.3–0.4) per 10,000 live births respectively. About 90% of pregnancies with Edwards or Patau syndrome were diagnosed antenatally, and this proportion remained constant over time. The proportion of diagnoses detected before 15 weeks increased from 50% in 2005 to 53% in 2012 for Edwards syndrome, and from 41% in 2005 to 63% in 2012 for Patau syndrome. Conclusions Almost 700 women per year had a pregnancy with Edwards or Patau syndrome. Over 90% of these pregnancies were detected antenatally, with the increased use of first trimester screening for Down’s syndrome resulting in the reduction in the mean gestational age at diagnosis of these syndromes.