采用比较基因组杂交技术利用孕妇血液中的胎儿细胞对21三体综合征进行产前诊断。
Prenatal diagnosis of trisomy 21 with fetal cells in maternal blood using comparative genomic hybridization.
作者信息
Yang Young Ho, Yang Eun Suk, Kwon Ja Young, Kim In Kyu, Park Yong Won
机构信息
Department of Obstetrics and Gynecology, Yonsei University College of Medicine, Seoul, Korea.
出版信息
Fetal Diagn Ther. 2006;21(1):125-33. doi: 10.1159/000089062.
OBJECTIVE
This study was undertaken to determine the clinical use of comparative genomic hybridization (CGH) for detection of fetal trisomy 21 from fetal ceIls (nucleated red blood cells; nRBCs) isolated from maternal peripheral venous blood.
METHODS
Maternal peripheral venous blood samples were collected in sterile tubes containing heparin. After triple density gradient centrifugation, magnetic activated cell sorting using CD45 and CD71 was used to isolate the fetal nRBCs. Fetal nRBCs were successfully isolated from maternal peripheral blood in all cases. After laser-microdissecting fetal nRBCs, degenerate oligonucleotide-primed polymerase chain reaction, and nick translation, DNA size was suitable for hybridization.
RESULTS
By CGH analysis, we diagnosed one normal male, one normal female, and one trisomy 21 male fetus. These results were confirmed by amniocentesis.
CONCLUSIONS
Prenatal diagnosis from fetal cells in maternal peripheral blood by CGH shows clinical promise as an alternative or as a supplement to fluorescence in situ hybridization with chromosome-specific probes but further studies are warranted.
目的
本研究旨在确定比较基因组杂交（CGH）技术在检测从孕妇外周静脉血中分离出的胎儿细胞（有核红细胞；nRBCs）中的21三体胎儿方面的临床应用。
方法
将孕妇外周静脉血样本采集于含肝素的无菌试管中。经过三重密度梯度离心后，使用抗CD45和抗CD71磁珠分选法分离胎儿有核红细胞。所有病例均成功从孕妇外周血中分离出胎儿有核红细胞。在对胎儿有核红细胞进行激光显微切割、简并寡核苷酸引物聚合酶链反应及缺口平移后，DNA大小适合杂交。
结果
通过CGH分析，我们诊断出一名正常男性胎儿、一名正常女性胎儿和一名21三体男性胎儿。这些结果经羊膜穿刺术得以证实。
结论
通过CGH技术从孕妇外周血中的胎儿细胞进行产前诊断，作为与染色体特异性探针荧光原位杂交的替代或补充方法显示出临床应用前景，但仍需进一步研究。
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