脊柱裂儿童的妊娠过程、家族史和遗传。

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

摘要

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%。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Course of pregnancy, family history and genetics in children with spina bifida.

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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