Chorionic villus sampling in continuing pregnancies. II. Cytogenetic reliability.
Chorionic villus sampling in continuing pregnancies. II. Cytogenetic reliability.
复制标题
连续妊娠中的绒毛膜绒毛取样。
DOI：
10.1016/0002-9378(86)90724-6
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发表时间：
1986
影响因子：
9.8
通讯作者：
Elias,S
中科院分区：
文献类型：
--
作者：
Martin,AO;Simpson,JL;Rosinsky,BJ;Elias,S
对103例绒毛标本进行了细胞遗传学分析。对103个样本的分析发现了6个异常。6例中有3例在胎儿或新生儿组织中发现异常(47，XY，+13；46，XY，t(13q13q)；45，X)。在三个样本中，检测到的异常没有得到证实；在三个样本中，有两个样本仅在长期培养中检测到异常，而在其他样本中，异常仅限于过夜孵化后对绒毛的直接分析。我们最初的经验使我们得出结论，绒毛样本中的某些异常可能不表明胎儿异常；45，X/46，XX或45，X/46，XY嵌合体是这样的补充。取样后不久处理的完整绒毛和培养细胞的细胞遗传学分析之间的差异可以通过遵循几个建议的指南和自由使用验证性羊膜穿刺术来处理。
Cytogenetic analysis was performed on 103 chorionic villus samples. Analysis of the 103 samples revealed six abnormalities. In three of the six the abnormalities were confirmed in fetal or neonatal tissue (47, XY,+ 13; 46, XY, t (13q13q); 45, X). In three samples the abnormalities detected were not confirmed; in two of the three the abnormalities were detected only in long-term cultures, whereas in the other samples the abnormality was restricted to direct analysis of the villi after overnight incubation. Our initial experience leads us to conclude that certain abnormalities in chorionic villus sampling may not be indicative of fetal abnormalities; 45, X/46, XX or 45, X/46, XY mosaicism is such a complement. Discrepancies between cytogenetic analysis of intact villi processed soon after sampling and of cells grown in culture can be managed by adhering to several suggested guidelines and by liberal use of confirmatory amniocentesis.