Fetal diagnosis using fetal erythroid progenitor cells in maternal blood

61名孕妇在穿刺前于妊娠10 - 17周采集外周血样本。从800微升的每个血浆或血清样品中提取DNA。为了检测母体血浆和血清中的Y染色体特异性序列DYS14和DYZ3，对每个DNA提取物进行40个循环的PCR。PCR产物经2.5%琼脂糖凝胶电泳和溴化乙锭染色，并与羊水穿刺细胞遗传学分析结果进行比较，羊水穿刺细胞遗传学分析结果显示，31例为男性胎儿，30例为女性胎儿。在31份来自怀有男性胎儿的孕妇的血浆样品中的27份和来自相同妇女的所有31份血清样品中均检测到DYS14和DYZ3。在30名怀有女性胎儿的孕妇的血浆或血清样品中均未检测到DYS14或DYZ3。 ...更多信息 血清可用于诊断胎儿性别。血清样品取自孕龄为15 - 17周的孕妇，在她们进行子宫穿刺术之前。共检测70例标本，其中46，XY妊娠55例，47，XY，+21妊娠5例，47，XY，+18妊娠3例，46，XY，dup（1）妊娠1例，46，XY双胎妊娠2例，46，XX妊娠4例作为阴性对照。我们用实时定量聚合酶链反应（PCR）检测了SRY序列作为胎儿DNA的分子标记物的浓度，当胎儿为男性时，SRY序列是可检测和可测量的，除了一例47，XY，+18。该病例显示胎儿生长迟缓和心动过缓。当胎儿为雌性时，未检测到SRY序列的扩增信号。46，XY，+21和46，XY，+18的孕妇血清中胎儿DNA的平均浓度分别为31.5拷贝/ml、23.5拷贝/ml和21.5拷贝/ml。胎儿染色体核型正常的孕妇与染色体核型异常的孕妇之间的胎儿DNA浓度无显著差异。少

Peripheral blood samples were obtained from 61 pregnant women at 10-17 weeks of gestation before amniocentesis. DNA was extracted from 800 microL of each plasma or serum sample. To detect the Y-chromosome-specific sequences DYS14 and DYZ3 in the maternal plasma and serum, 40 cycles of PCR were carried out for each DNA extract. The PCR products were analyzed by 2.5% agarose gel electrophoresis and ethidium bromide staining, and the results were compared with the results of the cytogenetic analyses of amniocentesis.Cytogenetic analysis of amniocentesis revealed that 31 pregnant women had a male fetus and the remaining 30 pregnant women had a female fetus. Both DYS14 and DYZ3 were detected in 27 of the 31 plasma samples obtained from pregnant women carrying a male fetus and in all of 31 serum samples obtained from the same women. Neither DYS14 nor DYZ3 was detected in either the plasma or serum samples obtained from any of the 30 pregnant women carrying a female fetus.PCR analysis of mate … More rnal serum can be used to diagnose fetal gender.Serum samples were obtained from pregnant women at gestational ages ranging from 15 to 17 weeks, prior to their undergoing amniocentesis. In total, we examined 70 samples consisting of 55 cases of pregnancy with 46, XY, 5 cases with 47, XY, +21, 3 cases with 47, XY, +18, a single case with 46, XY, dup (1) and 2 cases with twins of 46, XY, and 4 cases with 46, XX which were used as negative controls. We measured the concentration of the SRY sequence as a molecular marker for fetal DNA using real-time quantitative polymerase chain reaction (PCR) assay.The SRY sequence was detectable and measurable when the fetuses were male except for one case with 47, XY, +18. This case showed fetal growth retardation and bradycardia. No amplification signals of the SRY sequence were detected when the fetuses were female. The mean concentration of fetal DNA in maternal serum was 31.5 copies/ml in the pregnancy with 46, XY, 23.5 copies/ml in the pregnancies with 47, XY, +21 and 21.5 copies/ml in the pregnancies with 46, XY, +18. There were no significant differences in the concentration of fatal DNA between pregnancies with fetuses of normal karyotype and those with fetuses of abnormal karyotype. Less