Course of pregnancy, family history and genetics in children with spina bifida.

T A Angerpointner, L Pockrandt, K Schroer
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引用次数: 7

Abstract

Course of pregnancy, family history and genetics were evaluated in 257 children with spina bifida and compared with 537 non-malformed controls investigated under the same criteria. Birth data exhibited a significant seasonality with a maximum in January and a minimum in July which differed from the average distribution of birth data in Bavaria (maximum April, minimum October). The total number of pregnancy disturbances was 60.6% in mothers of spina bifida children, whereas this figure amounted to 30.1% in mothers of the control group. This high incidence of pregnancy disturbances in spina bifida was due to a high rate of diseases (6 times above controls) and drugs (6 times above controls) during early pregnancy. In 22.9% of children with spina bifida malformed relatives were found, whereas this was the case in only 6.4% of the children of the non-malformed control group. Not only malformations of the central nervous system but also malformations of other organ systems were found to be increased in relatives. This is a pointer not only to genetic influences as well-known aetiological factor, but also towards a generally higher susceptibility to malformation genesis in a relatively small group of persons. Risk of recurrence was 0.5% if one parent was affected and 4% if a sibling was affected.

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脊柱裂儿童的妊娠过程、家族史和遗传。
对257名脊柱裂患儿的妊娠过程、家族史和遗传学进行了评估,并与537名正常的对照组在相同的标准下进行了比较。出生数据具有明显的季节性,1月最多,7月最少,这与巴伐利亚州出生数据的平均分布(4月最多,10月最少)不同。脊柱裂患儿母亲的妊娠障碍总数为60.6%,而对照组母亲的这一数字为30.1%。脊柱裂的妊娠障碍发生率高是由于妊娠早期疾病(比对照组高6倍)和药物(比对照组高6倍)发生率高。在22.9%的脊柱裂患儿中发现了畸形亲属,而在正常对照组中,这一比例仅为6.4%。不仅是中枢神经系统的畸形,其他器官系统的畸形在亲属中也有所增加。这不仅表明遗传影响是众所周知的病因因素,而且表明在相对较小的人群中,对畸形发生的普遍易感性更高。如果父母一方受到影响,复发风险为0.5%,如果兄弟姐妹受到影响,复发风险为4%。
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