SPINA-BIFIDA AND ANENCEPHALUS IN GREATER LONDON
SPINA-BIFIDA AND ANENCEPHALUS IN GREATER LONDON
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DOI：
10.1136/jmg.10.3.209
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发表时间：
1973-01-01
影响因子：
4
通讯作者：
EVANS, K
中科院分区：
文献类型：
--
作者：
CARTER, CO;EVANS, K
为了比较南威尔士高发区和英格兰东南部低发区的研究结果，从1965年4月1日至1968年3月31日，对伦敦33个行政区中32个患有神经管畸形(囊性脊柱裂、脑膨出、无脑和脑震荡)的新生儿进行了出生频率和家庭研究。出生是通过地方当局的登记、死产和婴儿死亡证明以及医院记录来确定的。脊柱裂(包括脑膨出)和无脑儿(包括小脑)的发病频率分别为1.54和1.41。这还不到南威尔士频率的十分之四。这两种类型的畸形都有冬季出生过多的证据，受孕高峰期在2、3、4月。最初的1209名患者中有870人的父母被追踪并走访进行家庭调查。人们看到了通常的社会阶层效应，即第一和第二社会阶层的父亲数量不足。以产妇年龄为标准的合法出生患者的出生顺序分布显示，第一个孩子的出生顺序仅略高于第一个孩子，而不是晚出生的孩子。然而，就产妇年龄而言，以出生顺序为标准，20岁以下和35岁以上的母亲所生的患者过多。整个家庭的研究样本显示，在1966年的样本普查中，与出生在西印度群岛的父母相比，来自印度和巴基斯坦的父母所生的患者明显多于移民父母的家庭。与对照组相比，164名匹配对照组的父母出生在爱尔兰、印度和巴基斯坦，出生在英格兰东南部和西印度群岛的父母较少。患有脊柱裂和无脑畸形的同胞比例在脊柱裂指标型患者中为3.42%，在无脑型患者中为5.44%。在索引患者之后出生的患者，这一比例分别为5.17%和4.17%。对兄弟姐妹的总体风险低于南威尔士的调查结果，但与人口出生频率相比要高得多。父亲的社会阶层对兄弟姐妹的风险没有明显的影响，但有迹象表明，母亲的父亲的社会阶层的影响，母亲在I、II或IIIa级家庭长大的风险较低。祖父母出生地对其无明显影响。除了兄弟姐妹外，受影响的亲属没有明显的影响。在近亲中，只有母亲的姐妹的孩子的出生频率显著高于总体出生频率。与之前的调查结果一样，研究结果表明神经管畸形的病因是多因素的，取决于遗传易感性和环境触发因素。
In order to make comparisons with the findings in a high frequency area, South Wales, with those in a low frequency area, south-east England, a birth frequency and family study was made of all births with neural tube malformations (spina bifida cystica, encephalocele, anencephaly, and iniencephaly) in 32 of the 33 London Boroughs over a 3-year period from 1 April 1965 to 31 March 1968. The births were ascertained through local authority registers, stillbirth and infant death certificates, and hospital records. The frequencies found were 1·54 for spina bifida (including encephalocele) and 1·41 for anencephaly (including iniencephaly). This was less than four tenths of the South Wales frequency. Evidence of an excess of winter births was found for both types of malformation, with a peak for conceptions in February, March, and April.The parents of 870 of the original 1209 index patients were traced and visited for the family survey. The usual social class effect was seen, a deficit of fathers in social class I and II. The birth order distribution of legitimately born patients standardized for maternal age showed only a small excess of firstborn and a deficit rather than an excess of lateborn. For maternal age, however, standardized for birth order, there was an excess of patients born to mothers under 20 and over 35 years of age. The whole family study sample showed a striking excess of patients born to parents from India and Pakistan compared to parents born in the West Indies in relation to households of immigrant parents in the 1966 sample Census. A small sample of 164 patients with matched controls had more parents born in Ireland and India and Pakistan and fewer born in south-east England and the West Indies than the controls.The proportions of sibs affected with spina bifida and anencephaly were 3·42% for spina bifida index patients and 5·44% for anencephaly. For patients born after the index patient the proportions were 5·17 and 4·17%, respectively. The overall risk to sibs was lower than that shown in the South Wales survey, but substantially higher relative to the population birth frequency. The risk to sibs was not apparently influenced by father's social class but there was an indication of an effect of mother's father's social class, with a lower risk where mother had grown up in a class I, II, or IIIa home. There was no apparent influence of grandparental birth place. There was no apparent effect of a relative affected other than a sib. Among cousins a significant increase over the population birth frequency was seen only in mother's sisters' children.The findings, like those of earlier surveys, suggest a multifactorial aetiology of the neural tube malformations, depending both on genetic predisposition and environmental triggers.