Prenat Diagn. 1994 May;14(5):363-79. doi: 10.1002/pd.1970140506.
A prospective 3-year collaborative study was undertaken in 1987 to collect cytogenetic data from diagnostic chorionic villus samples (CVS) in the U.K. in order to determine the predictive value of the chromosome abnormalities encountered. Twenty-seven laboratories contributed a total number of 7595 cases, of which 97.6 per cent were successful. Excluding single cell anomalies, a total of 480 cytogenetic abnormalities were reported, of which 137 were familial structural rearrangements and 343 were de novo problems. Non-mosaic trisomies of chromosomes 13, 18, and 21 (n = 157), non-mosaic sex chromosome abnormalities (n = 33), and triploidy (n = 6) were all confirmed in cells of fetal origin where follow-up information was available. Of the nine remaining non-mosaics including tetraploidy, trisomies of other autosomes, and extra markers, only a trisomy 16 and a case of a supernumerary marker proved genuine. Eighty-eight cases of mosaicism were reported to the study, of which only nine were confirmed as genuine: two cases involving chromosome 13, one trisomy 18, two examples of extra marker chromosomes, three 45,X, and one 47,XXX. There were no reports of false-negative findings. Presumptive maternal cell contamination was encountered in 39 cases, a detected incidence of 0.5 per cent. Four cases of presumptive 'vanishing twin' were recorded: in three of these, direct preparations showed a female karyotype, whereas culture indicated a male (with male fetuses in two cases). The fourth case was of a female fetus with male and female cells in the CVS cultures. Subtle structural chromosome abnormalities were missed in three instances. Accurate prediction of the fetal karyotype was shown to require detailed knowledge of both the nature and the distribution of abnormal cells in the extra-embryonic tissues. In many cases, this could only be made where results from direct preparations and cultured cells were available. A number of conclusions were reached from these and similar data in the literature regarding the reliability of chromosome findings in CVS.
1987年开展了一项为期3年的前瞻性合作研究，旨在收集英国诊断性绒毛膜绒毛取样（CVS）的细胞遗传学数据，以确定所遇到的染色体异常的预测价值。27个实验室共提供了7595例样本，其中97.6%的样本成功获取数据。排除单细胞异常情况后，共报告了480例细胞遗传学异常，其中137例为家族性结构重排，343例为新发问题。13号、18号和21号染色体的非嵌合三体（n = 157）、非嵌合性染色体异常（n = 33）以及三倍体（n = 6）在有随访信息的胎儿来源细胞中均得到证实。在其余9例非嵌合体中，包括四倍体、其他常染色体三体以及额外标记染色体，只有16号染色体三体和1例额外标记染色体的情况被证实为真实存在。该研究共收到88例嵌合体报告，其中仅9例被确认为真实情况：2例涉及13号染色体，1例18号染色体三体，2例额外标记染色体，3例45,X，1例47,XXX。未报告假阴性结果。39例样本出现推测性母体细胞污染，检测发生率为0.5%。记录到4例推测性“消失双胎”情况：其中3例，直接制片显示为女性核型，而培养结果显示为男性（2例中有男性胎儿）。第4例是CVS培养中有男性和女性细胞的女性胎儿。有3例遗漏了细微的染色体结构异常。研究表明，准确预测胎儿核型需要详细了解胚外组织中异常细胞的性质和分布。在许多情况下，只有在直接制片和培养细胞的结果都可用时才能做到这一点。从这些数据以及文献中的类似数据得出了一些关于CVS染色体检查结果可靠性的结论。
