The predictive value of cytogenetic diagnosis after CVS: 1500 cases
The predictive value of cytogenetic diagnosis after CVS: 1500 cases
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CVS后细胞遗传学诊断的预测价值：1500例
DOI：
10.1002/pd.1970100206
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发表时间：
1990
影响因子：
3
通讯作者：
G. Anders
中科院分区：
文献类型：
--
作者：
A. Breed;A. Mantingh;J. R. Beekhuis;M. Kloosterman;H. Ten Bolscher;G. Anders
本文报告了1500例绒毛细胞遗传学检查结果。在这1 500份样本中，23份样本（1.5%）由于实验室故障而无法提供诊断结果。不合格率从前500个样本的3%下降到后500个样本的0.2%。在其余的1477例标本中，发现58例（3.9%）染色体畸变，其中21例（36%）不能代表胎儿本身的核型。计算CVS中（不同组）染色体畸变的预测值。一些主要的染色体畸变的预测值（之间的差异）的影响进行了讨论。假设了组织和染色体特异性选择机制。
The cytogenetic results of 1500 chorionic villus samples (CVS) are presented. In these 1500 samples, 23 samples (1·5 per cent) could not be provided with a diagnosis because of laboratory failure. This failure rate dropped from 3 per cent in the first 500 samples to 0·2 per cent in the last 500. In the remaining 1477 samples, 58 (3·9 per cent) chromosomal aberrations were found. Of these, 21 (36 per cent) proved not to represent the karyotype of the fetus proper. Predictive values of (different groups of) chromosomal aberrations in CVS are calculated. The impact of (differences between) the predictive value for some major chromosomal aberrations is discussed. A tissue‐ and chromosome‐specific selection mechanism is postulated.