Direct detection of fetal cells in maternal blood: a reappraisal using a combination of two different Y chromosome-specific FISH probes and a single X chromosome-specific probe

Direct detection of fetal cells in maternal blood: a reappraisal using a combination of two different Y chromosome-specific FISH probes and a single X chromosome-specific probe
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DOI:
10.1007/s00404-005-0049-3
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发表时间:
2005-12-01
影响因子:
2.6
通讯作者:
Hahn, Sinuhe
Hahn, Sinuhe
中科院分区:
医学3区
文献类型:
--
作者:
Babochkina, Tatiana;Mergenthaler, Susanne;Hahn, Sinuhe

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背景资料:最近,我们探索了检测循环男性胎儿细胞直接在母体全血样本的荧光原位杂交(FISH)。为了提高胎儿细胞检测的效率,我们现在已经研究了这是否可以通过使用两种不同的Y染色体特异性FISH探针(α-卫星和经典卫星III区)与X染色体特异性FISH探针的组合来增强。方法:以盲法检查了19份孕妇血液样本(中位胎龄=28周,范围=12-37周)。未进行富集程序。在低渗处理和Carnoy固定后,通过具有单个X和两个Y染色体特异性探针的双色FISH检查总有核细胞。9例同时行常规XY FISH检查。结果如下:当使用两个Y染色体特异性探针(特异性=75%;灵敏度=91%)时,与常规XY-FISH方法(特异性=50%;灵敏度=60%)相比,胎儿细胞检测是优越的(上级)。结论:在大多数受检孕妇血液样本中可以检测到男性胎儿细胞。与传统的XY-FISH方案相比,当使用单个X和两个Y染色体特异性探针的组合时,特异性和灵敏度得到改善。
Background: We have recently explored the detection of circulatory male fetal cells directly in maternal whole blood samples by fluorescence in-situ hybridization (FISH). In order to improve the efficacy of fetal cell detection, we have now examined whether this could be enhanced by the use of two different Y chromosome-specific FISH probes (alpha-satellite and classical satellite III regions) in combination with an X chromosome-specific FISH probe. Methods: Nineteen maternal blood samples (median gestational age=28 weeks, range=12-37 weeks) were examined in a blinded manner. No enrichment procedure was performed. Following hypotonic treatment and Carnoy's fixation, total nucleated cells were examined by two color FISH with a single X and two Y chromosome-specific probes. Nine cases were examined in parallel by conventional XY-FISH. Results: Fetal cell detection was superior when using two Y chromosome-specific probes (specificity=75%; sensitivity=91%) when compared to the conventional XY-FISH approach (specificity=50%; sensitivity=60%). Conclusions: Male fetal cells can be detected in most maternal blood samples examined. Specificity and sensitivity is improved when using a combination of single X and two Y chromosome-specific probes when compared to a conventional XY-FISH protocol.