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在有一个非遗传性染色体畸变患儿后行羊膜腔穿刺术时染色体异常的风险。一项1981年欧洲产前诊断协作研究。

Risk for chromosome abnormality at amniocentesis following a child with a non-inherited chromosome aberration. A European Collaborative Study on Prenatal Diagnoses 1981.

作者信息

Stene J, Stene E, Mikkelsen M

出版信息

Prenat Diagn. 1984 Spring;4 Spec No:81-95. doi: 10.1002/pd.1970040707.

Abstract

Based on 2890 prenatal diagnoses from 12 European countries the risk for a chromosomally abnormal fetus at amniocentesis after the birth of a child with a chromosome abnormality has been estimated to be 1.3 per cent when the mother's age is 34 years or less at amniocentesis and 1.8 per cent if the mother is older. This risk does not depend on paternal age, and it is independent of the type of the chromosome abnormality of the index child. Some geographical heterogeneities were detected. Therefore, the overall risk has to be considered as a rough estimate. The chromosome constitution of the abnormal fetus differed from that of the index patient in 21 of 41 cases. Several explanations for the higher risk have been discussed. If the index child had trisomy 18, 13 or a sex chromosome abnormality, the fetus tended to be a female. If the index child was a trisomy 21, the fetal sex ratio was normal.

摘要

基于来自12个欧洲国家的2890例产前诊断,当母亲在羊膜穿刺术时年龄为34岁及以下时,在生育了染色体异常患儿后进行羊膜穿刺术时,染色体异常胎儿的风险估计为1.3%;如果母亲年龄较大,则为1.8%。这种风险不取决于父亲年龄,且与先证者染色体异常的类型无关。检测到了一些地理异质性。因此,总体风险只能作为一个粗略估计。在41例病例中的21例中,异常胎儿的染色体构成与先证者不同。已经讨论了风险较高的几种解释。如果先证者患有18三体、13三体或性染色体异常,胎儿往往为女性。如果先证者是21三体,则胎儿性别比例正常。

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