Monteleone-Neto R, Castilla E E
Escola Paulista de Medicina, Disciplina de Genética, São Paulo, Brazil.
Am J Med Genet. 1994 Sep 1;52(3):319-23. doi: 10.1002/ajmg.1320520313.
Anencephaly is Suspected to cluster in the municipality of Cubatão (Brazil), and is attributed to industrial pollution. We surveyed malformations prospectively in 10,000 births, in 3 consecutive series, corresponding to 3 maternity hospital in Cubatão, under working definitions and norms taken from the ECLAMC (Latin American Collaborative Study of Congenital Malformations). The sample from Cubatão had a higher proportion of black racial ancestry, and lower frequencies for stillbirths and for immediate neonatal death, than in the rest of South America. The birth prevalence of malformations varied between the 3 hospitals in Cubatão, due to differences in ascertainment of minor defects. A higher-than-expected prevalence rate in Cubatão was observed only for postaxial polydactyly, probably due to a higher proportion of black racial ancestry, while lower-than-expected rates were obtained for congenital dislocation of the hip, and for babies with multiple congenital anomalies patterns, both of them attributed to underascertainment of minor defects. These observations do not support the suspicion of an elevated birth prevalence rate for anencephaly, neural tube defects, or any other major congenital malformation in Cubatão.
巴西库巴唐市疑似存在无脑儿聚集现象，原因归咎于工业污染。我们按照拉丁美洲先天性畸形协作研究（ECLAMC）采用的工作定义和规范，对库巴唐市3家妇产医院连续3组共10000例出生病例中的畸形情况进行了前瞻性调查。与南美洲其他地区相比，库巴唐市样本中黑人种族血统的比例更高，死产和新生儿即刻死亡的发生率更低。由于对轻微缺陷的确诊存在差异，库巴唐市3家医院的畸形出生患病率各不相同。仅在轴后多指畸形方面观察到库巴唐市的患病率高于预期，这可能是由于黑人种族血统比例较高；而髋关节先天性脱位以及患有多种先天性异常模式的婴儿的患病率低于预期，这两者均归因于对轻微缺陷的确诊不足。这些观察结果并不支持库巴唐市无脑儿、神经管缺陷或任何其他主要先天性畸形的出生患病率升高的怀疑。
