Changes in fetal prevalence and outcome for trisomies 13 and 18: a population-based study over 23 years
Changes in fetal prevalence and outcome for trisomies 13 and 18: a population-based study over 23 years
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DOI：
10.3109/14767051003758879
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发表时间：
2011-01-01
影响因子：
1.8
通讯作者：
Embleton, Nicholas D.
中科院分区：
文献类型：
--
作者：
Irving, Claire;Richmond, Sam;Embleton, Nicholas D.
Objective.产前诊断和母亲年龄的变化可能会对13和18三体的活产患病率产生影响。我们调查了这些疾病的诊断、患病率和生存率的趋势。1985年至2007年，一项基于人口的研究，使用了一个完善的先天性异常登记册。对个体记录进行了回顾，并获得了活产和母亲年龄数据。13号和18号三体妊娠分别从每1 000例登记出生的0.08例增加到0.23例，从每1 000例登记出生的0.20例增加到0.65例。产前诊断增加，并与高终止率。13三体的活产患病率从每1 000例活产0.05例降至0.03例，18三体的活产患病率从每1 000例活产0.16例降至0.10例。出生后存活率仍然很低：一名13三体婴儿（3%）和四名18三体婴儿（6%）存活了第一年。35岁以上的母亲比例从6%上升到15%。产前筛查和母亲年龄的变化对13和18三体的活产患病率产生了巨大影响。婴儿存活率基本保持不变，大多数婴儿在新生儿期死亡。
Objective. Changes in prenatal diagnosis and maternal age are likely to have an impact on live born prevalence of trisomies 13 and 18. We investigated trends in diagnosis, prevalence, and survival in these conditions.Methods. A population-based study of one UK health region in 1985-2007 using a well-established congenital abnormality register. Individual records were reviewed and live birth and maternal age data obtained.Results. Pregnancies with trisomies 13 and 18 increased from 0.08 to 0.23 per 1000 registered births and 0.20 to 0.65 per 1000 registered births, respectively. Prenatal diagnosis increased and was associated with high termination rates. Live born prevalence with trisomy 13 decreased from 0.05 to 0.03 per 1000 live births and with trisomy 18 from 0.16 to 0.10 per 1000 live births. Postnatal survival remains poor: one baby (3%) with trisomy 13 and four (6%) with trisomy 18 survived the first year. The percentage of mothers over 35 years increased from 6 to 15%.Conclusions. Changes in prenatal screening and maternal age have had dramatic effects on the live born prevalence of trisomies 13 and 18. Infant survival remains largely unchanged with the majority dying in the neonatal period.