PRENATAL-DIAGNOSIS WITH FETAL CELLS ISOLATED FROM MATERNAL BLOOD BY MULTIPARAMETER FLOW-CYTOMETRY
PRENATAL-DIAGNOSIS WITH FETAL CELLS ISOLATED FROM MATERNAL BLOOD BY MULTIPARAMETER FLOW-CYTOMETRY
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DOI：
10.1016/0002-9378(91)90024-l
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发表时间：
1991-12-01
影响因子：
9.8
通讯作者：
SIMPSON, JL
中科院分区：
文献类型：
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作者：
PRICE, JO;ELIAS, S;SIMPSON, JL
医学遗传学的一个长期追求的目标是发展不危及胎儿的产前诊断程序。 可靠和普遍的细胞遗传学疾病筛查需要分析从母体循环中分离的胎儿细胞。 这将适用于所有孕妇，无论其年龄或病史如何。 在当前的研究中，根据四个参数对胎儿有核红细胞进行流式分选：细胞大小、细胞粒度、转铁蛋白受体和血型糖蛋白-A细胞表面分子。 通过聚合酶链反应与寡核苷酸引物侧翼的单拷贝Y特异性脱氧核糖核酸序列，男性胎儿中的12个（100%）妊娠的流式分选样品中正确识别;女性胎儿中的5个（83%）妊娠正确识别。 我们还实现了胎儿非整倍体的产前诊断，通过使用流式分选的有核胎儿红细胞和染色体特异性脱氧核糖核酸探针原位杂交：1例21三体在绒毛取样后1周采集的母体血液中检测到，1例18三体在绒毛取样前立即采集的母体血液中检测到。 虽然我们的研究结果是有希望的，额外的数据的背景灵敏度和特异性的流式细胞分选的胎儿细胞原位杂交将是必要的，以尽量减少主观的解释，并允许临床应用。
A long-sought goal of medical genetics has been development of prenatal diagnostic procedures that do not endanger the conceptus. Reliable and universal screening for cytogenetic disorders would require analysis of fetal cells isolated from the maternal circulation. This would be applicable to all pregnant women, irrespective of their ages or histories. In the current study fetal nucleated erythrocytes were flow sorted on the basis of four parameters: cell size, cell granularity, transferrin receptor, and glycophorin-A cell surface molecule. By polymerase chain reaction with oligonucleotide primers flanking single-copy Y-specific deoxyribonucleic acid sequences, male fetuses were correctly identified among flow-sorted samples in 12 of 12 (100%) pregnancies; female fetuses were correctly identified in 5 of 6 (83%) pregnancies. We also achieved the prenatal diagnosis of fetal aneuploidies by use of flow-sorted nucleated fetal erythrocytes and in situ hybridization with chromosome-specific deoxyribonucleic acid probes: one case of trisomy 21 that was detected in maternal blood taken 1 week after chorionic villus sampling and one case of trisomy 18 that was detected in maternal blood taken immediately before chorionic villus sampling. Although our results are promising, additional data on the background sensitivity and specificity of in situ hybridization in flow-sorted fetal cells will be necessary to minimize subjective interpretation and permit clinical application.