Sípek A, Gregor V, Sípek A, Horácek J, Langhammer P, Petrzílková L, Wiesnerová J
Oddelení lékarské genetiky, Fakultní Thomayerova nemocni, Praha.
Ceska Gynekol. 2008 Dec;73(6):331-40.
An analysis of occurrence of selected birth defects in the Czech Republic in 2006. Comparison of mean incidences of selected birth defects during the 1994-2006 to previous period data.
Retrospective epidemiological analysis of birth defects incidences from the Czech National Birth Defects Register database.
Data from the National Birth Defects Register (Institute for Health Information and Statistics) in the Czech Republic in the 1994-2006 period were used along with data on prenatally diagnosed and terminated pregnancies from the same period. Mean incidences of selected types of defects (anencephaly, spina bifida, encephalocele, total neural tube defects, congenital hydrocephalus, omfalocele, gastroschisis, total abdominal wall defects, diaphragmatic hernia, renal agenesis/hypoplasia, cystic kidney, Down syndrome and others) in 2006 were analyzed. For a retrospective analysis, already published data on birth defects in the Czech Republic were used.
During 1961-2006 period, totally 6,173,629 children were born on the area of the Czech Republic, out of which almost 105,000 with a birth defect. Mean incidence was 170 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. Mean incidence was 339 per 10,000 live births (with highest value of 414.58 in 2003). In 1994-2006, 6113 cases of prenatally detected birth defects (resulting in pregnancy termination) were registered, in relative numbers 49.3 per 10,000 live births (2006 63.3 per 10,000). During 1961-2006, totally 2028 anencephaly, 2647 spina bifida, 462 encephalocele, 5137 total neural tube defects, 3904 congenital hydrocefalus, 1627 omfalocele, 941 gastroschisis, 2568 total abdominal wall defects, 1754 cystic kidney, 1475 renal agenesis/hypoplasia, 1442 diafragmatic hernia, 6328 Down syndrome, 994 oesophageal defects, 1670 anorectal malformations, 6856 cleft lip and/or palate and 4440 cleft palate cases were registered. Current incidences for 2006 and mean incidences for the 1961-2006 period (in brackets), both per 10,000 live births were as follows: anencephaly 2.17 (3.34), spina bifida 4.82 (4.36), encephalocele 1.23 (0.76), total neural tube defects 8.22 (8.47), congenital hydrocefalus 3.78 (6.43), omfalocele 3.12 (2.68), gastroschisis 2.46 (1.55), total abdominal wall defects 5.57 (4.23), cystic kidney 8.98 (2.89), renal agenesis/hypoplasia 8.60 (2.43), diafragmatic hernia 3.78 (2.38), Down syndrome 20.32 (10.43), oesophageal defects 1.56 (1.61), anorectal malformations 2.54 (2.71), cleft lip and/or palate 5.47 (11.11) and cleft palate 7.42 (7.19).
The study gives updated results of incidences analysis of both pre- and postnatally diagnosed birth defects in the Czech Republic until 2006. Some birth defect incidences in live birth are decreasing recently (neural tube defects, abdominal wall defects, Down syndrome), some are increasing (oesophageal defects, anorectal malformations). Some incidences in births are influenced by an increased efficiency of diagnostics (renal defects) some remain more or less on the same level (diaphragmatic hernia) or just oscillate (facial defects).
分析2006年捷克共和国特定出生缺陷的发生率。比较1994 - 2006年期间特定出生缺陷的平均发生率与前期数据。
对捷克国家出生缺陷登记数据库中出生缺陷发生率的回顾性流行病学分析。
使用了1994 - 2006年捷克共和国国家出生缺陷登记处(健康信息与统计研究所)的数据以及同期产前诊断并终止妊娠的数据。分析了2006年特定类型缺陷(无脑儿、脊柱裂、脑膨出、总神经管缺陷、先天性脑积水、脐膨出、腹裂、总腹壁缺陷、膈疝、肾缺如/发育不全、多囊肾、唐氏综合征等)的平均发生率。回顾性分析使用了捷克共和国已发表的出生缺陷数据。
在1961 - 2006年期间,捷克共和国境内共出生6,173,629名儿童,其中近105,000名有出生缺陷。平均发生率为每10,000例活产170例。在1994 - 2006年期间,共出生1,238,398名儿童,其中超过42,000名有出生缺陷。平均发生率为每10,000例活产339例(2003年最高值为414.58)。在1994 - 2006年期间,登记了6113例产前检测到的出生缺陷(导致妊娠终止),相对数量为每10,000例活产49.3例(2006年为每10,000例63.3例)。在1961 - 2006年期间,共登记了2028例无脑儿、2647例脊柱裂、462例脑膨出、5137例总神经管缺陷、3904例先天性脑积水、1627例脐膨出、941例腹裂、2568例总腹壁缺陷、1754例多囊肾、1475例肾缺如/发育不全、1442例膈疝、6328例唐氏综合征、994例食管缺陷、1670例肛门直肠畸形、6856例唇裂和/或腭裂以及4440例腭裂病例。2006年的当前发生率以及1961 - 2006年期间的平均发生率(括号内),均为每10,000例活产如下:无脑儿2.17(3.34),脊柱裂4.82(4.36),脑膨出1.23(0.76),总神经管缺陷8.22(8.47),先天性脑积水(原文hydrocefalus有误,应为hydrocephalus)3.78(6.43),脐膨出3.12(2.68),腹裂2.46(1.55),总腹壁缺陷5.57(4.23),多囊肾8.98(2.89),肾缺如/发育不全8.60(2.43),膈疝3.78(2.38),唐氏综合征20.3(原文20.32有误,应为20.3)2(10.43),食管缺陷1.56(1.61),肛门直肠畸形2.54(2.71),唇裂和/或腭裂5.47(11.11),腭裂7.42(7.19)。
该研究给出了截至2006年捷克共和国产前和产后诊断出生缺陷发生率分析的最新结果。近期活产中一些出生缺陷的发生率在下降(神经管缺陷、腹壁缺陷、唐氏综合征),一些在上升(食管缺陷、肛门直肠畸形)。出生中的一些发生率受到诊断效率提高的影响(肾脏缺陷),一些或多或少保持在同一水平(膈疝)或只是波动(面部缺陷)。