Calzolari E, Bianchi F, Dolk H, Milan M
Istituto di Genetica Medica, Ferrara, Italy.
Am J Med Genet. 1995 Aug 28;58(2):187-94. doi: 10.1002/ajmg.1320580218.
A total of 732 cases of omphalocele and 274 cases of gastroschisis was registered in 21 regional registers in Europe (EUROCAT registers) during the period 1980-1990. The total prevalence rates were 2.52 per 10,000 for omphalocele and 0.94 per 10,000 for gastroschisis. There was significant heterogeneity in total prevalence rates among regions for omphalocele. Consistently higher than average total prevalence rates of omphalocele were found in the five centers of the British Isles. This was in large part linked to the association between omphalocele and neural tube defects. A significant female excess among the cases of omphalocele associated with neural tube defects, in comparison with an insignificant male excess for other cases of omphalocele, was observed. Geographical differences in the total prevalence of gastroschisis are partly explained by differences in maternal age distributions in the populations surveyed. Omphalocele was an isolated malformation in 46% of cases; gastroschisis was isolated in 79% of cases. The average birthweight and gestational age of both isolated and multiply malformed cases of both omphalocele and gastroschisis were low, especially for multiply malformed cases, and to a greater extent for isolated gastroschisis than for isolated omphalocele. Prenatal diagnosis leading to termination of pregnancy was reported in 33.2% of omphalocele and in 26.5% of gastroschisis cases, demonstrating the considerable impact of current prenatal screening programs. On the basis of clinical manifestations, epidemiologic characteristics, and the presence and type of additional malformations, omphalocele and gastroschisis can be considered heterogeneous conditions.
1980年至1990年期间，欧洲21个地区登记处（EUROCAT登记处）共登记了732例脐膨出病例和274例腹裂病例。脐膨出的总患病率为每10000例中有2.52例，腹裂的总患病率为每10000例中有0.94例。各地区脐膨出的总患病率存在显著异质性。在不列颠群岛的五个中心发现，脐膨出的总患病率一直高于平均水平。这在很大程度上与脐膨出和神经管缺陷之间的关联有关。与其他脐膨出病例中男性略多但不显著相比，观察到与神经管缺陷相关的脐膨出病例中女性明显居多。腹裂总患病率的地理差异部分可由所调查人群中母亲年龄分布的差异来解释。46%的脐膨出病例为孤立性畸形；79%的腹裂病例为孤立性畸形。脐膨出和腹裂的孤立性畸形病例以及多发畸形病例的平均出生体重和孕周均较低，尤其是多发畸形病例，并且孤立性腹裂病例的这种情况比孤立性脐膨出病例更严重。据报告，33.2%的脐膨出病例和26.5%的腹裂病例进行了产前诊断并终止妊娠，这表明当前的产前筛查计划产生了相当大的影响。根据临床表现、流行病学特征以及其他畸形的存在情况和类型，脐膨出和腹裂可被视为异质性疾病。
