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[捷克共和国出生儿童先天性畸形发病率及其随时间的变化过程]

[Course of congenital malformation incidences and their changes over time in children born in the Czech Republic].

作者信息

Sípek A, Gregor V, Horáček J, Sípek A, Langhammer P

机构信息

Oddeleni lekarske genetiky, Thomayerova nemocnicce, Praha, reditel MUDr. K. Filip,CSc. MBA.

出版信息

Ceska Gynekol. 2012 Oct;77(5):424-36.

Abstract

AIM OF STUDY

An analysis of incidences of selected birth defects in the Czech Republic in 2000 - 2008 period.

TYPE OF STUDY

Retrospective epidemiological analysis of birth defects incidences in births and total birth defects incidences (including prenatally diagnosed cases) from the Czech National Birth Defects Register database.

MATERIAL AND METHODS

Data from the National Birth Defects Register (Institute for Health Information and Statistics) in the Czech Republic in the 2000 - 2008 period were used along with data on prenatally diagnosed defects from particular departments of medical genetics. Sixteen selected defects (anencephaly, spina bifida, encephalocele, congenital hydrocephalus, coarctation of aorta, transposition of great vessels, hypoplastic left heart syndrome, Fallot tetralogy, omphalocele, gastroschisis, diaphragmatic hernia, oesophageal atresia and stenosis, anorectal malformations, Down syndrome, Edwards syndrome and Patau syndrome) were analyzed in detail.

RESULTS

There were 119 570 live births (61 326 boys and 58 244 girls) in 2008. In the same period, 4664 live births with a birth defect (under the age of one year) were reported, out of which 2754 boys and 1910 girls. Mean incidence was 390.06 (449.08 in boys and 327.93 in girls) per 10 000 live births. In 1994 - 2006, totally 1 238 398 children were born, out of which more than 42 000 with a birth defect. In the 2000 - 2006 period, absolute numbers of diagnosed live births with birth defect varied between 3600 - 3800 cases per year while in 2007 and 2008 years absolute numbers raised over 4600 cases per year. During 2000 - 2008 period following mean incidences (per 10 000 live births) of selected defects were ascertained (total incidences including prenatal diagnostics in brackets): anencephaly 0 - 0.3 (1.9 - 3.7), spina bifida 0.7 - 2.3 (3.2 - 5.2), encephalocele 0.1 - 0.4 (0.9 - 2.4), congenital hydrocephalus 1.6 - 3.5 (5.3 - 7.0), coarctation of aorta 3.9 - 5.2 (4.8 - 6.1), transposition of great vessels 2.9 - 4.5 (3.2 - 5.0), hypoplastic left heart syndrome 0.7 - 2.3 (2.2 - 4.3), Fallot tetralogy 2.6 - 4.0 (3.2 - 4.4), omphalocele 1.0 - 1.7 (1.8 - 3.8), gastroschisis 0.2 - 1.2 (2.4 - 3.4), diaphragmatic hernia 1.3 - 2.9 (1.5 - 3.9), Down syndrome 3.3 - 6.5 (15.8 - 22.2), Edwards syndrome 0.2 - 1.0 (3.5 - 5.8) and Patau syndrome 0.2 - 1.0 (1.2 - 2.6).

CONCLUSIONS

There has been no major change in birth defect incidences in live births in the Czech Republic in last years. Number of non-viable defects has decreased in stillbirths and in perinatal mortality in the Czech Republic. An incidence of some defects has decreased mostly due to a nation-wide system of prenatal diagnostics; some incidences remain stable in live-birth population in others incidences have increased. A total incidence has mostly increased (anencephaly being an exception) mostly due to an earlier prenatal diagnostics. In chromosomal syndromes, an increasing maternal age as well as a growing number of mothers of 35 years of age and over has contributed to the increased incidences.

摘要

研究目的

分析2000 - 2008年期间捷克共和国特定出生缺陷的发生率。

研究类型

对捷克国家出生缺陷登记数据库中出生时的出生缺陷发生率及总出生缺陷发生率(包括产前诊断病例)进行回顾性流行病学分析。

材料与方法

使用了捷克共和国2000 - 2008年期间国家出生缺陷登记处(健康信息与统计研究所)的数据以及医学遗传学特定部门的产前诊断缺陷数据。详细分析了16种选定的缺陷(无脑儿、脊柱裂、脑膨出、先天性脑积水、主动脉缩窄、大动脉转位、左心发育不全综合征、法洛四联症、脐膨出、腹裂、膈疝、食管闭锁和狭窄、肛门直肠畸形、唐氏综合征、爱德华兹综合征和帕陶综合征)。

结果

2008年有119570例活产(61326名男孩和58244名女孩)。同期报告了4664例有出生缺陷的活产(一岁以下),其中2754名男孩和1910名女孩。平均发生率为每10000例活产390.06例(男孩为449.08例,女孩为327.93例)。1994 - 2006年期间,共出生1238398名儿童,其中42000多名有出生缺陷。在2000 - 2006年期间,每年诊断出的有出生缺陷的活产绝对数在3600 - 3800例之间,而在2007年和2008年,绝对数超过每年4600例。在2000 - 2008年期间,确定了选定缺陷的以下平均发生率(每10000例活产,括号内为包括产前诊断的总发生率):无脑儿0 - 0.3(1.9 - 3.7),脊柱裂0.7 - 2.3(3.2 - 5.2),脑膨出0.1 - 0.4(0.9 - 2.4),先天性脑积水1.6 - 3.5(5.3 - 7.0),主动脉缩窄3.9 - 5.2(4.8 - 6.1),大动脉转位2.9 - 4.5(3.2 - 5.0),左心发育不全综合征0.7 - 2.3(2.2 - 4.3),法洛四联症2.6 - 4.0(3.2 - 4.4),脐膨出1.0 - 1.7(1.8 - 3.8),腹裂0.2 - 1.2(2.4 - 3.4),膈疝1.3 - 2.9(1.5 - 3.9),唐氏综合征3.3 - 6.5(15.8 - 22.2),爱德华兹综合征0.2 - 1.0(3.5 - 5.8)和帕陶综合征0.2 - 1.0(1.2 - 2.6)。

结论

近年来捷克共和国活产中出生缺陷的发生率没有重大变化。捷克共和国死产和围产期死亡中不可存活缺陷的数量有所减少。一些缺陷的发生率下降主要归因于全国性的产前诊断系统;一些发生率在活产人群中保持稳定,而另一些发生率则有所上升。总发生率大多上升(无脑儿除外),主要是由于产前诊断提前。在染色体综合征中,产妇年龄增加以及35岁及以上母亲数量的增加导致了发生率的上升。

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