Fetal gender determination in early pregnancy through qualitative and quantitative analysis of fetal DNA in maternal serum
Fetal gender determination in early pregnancy through qualitative and quantitative analysis of fetal DNA in maternal serum
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DOI：
10.1007/s00439-001-0649-3
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发表时间：
2002-01-01
期刊：
影响因子：
5.3
通讯作者：
Ohama, K
中科院分区：
文献类型：
--
作者：
Honda, H;Miharu, N;Ohama, K
孕妇血浆和血清中的胎儿DNA已被证明是一种有用的材料，可用于胎儿性别确定和异常妊娠的筛查试验，但早期妊娠除外。取81例妊娠5~10周孕妇的血清标本。采用常规聚合酶链式反应(PCR)检测孕妇血清中Y染色体序列(DYS14)，以确定胎儿性别，并在产后对新生儿进行检查。还进行了SRY和β-珠蛋白基因的实时定量分析，以确定胎儿性别并量化怀孕早期母体血清中胎儿DNA的浓度。常规聚合酶链式反应检测男性胎儿的总灵敏度为95%，7周后的灵敏度为100%，而实时荧光定量聚合酶链式反应的5周后的总灵敏度为100%。对SRY基因的定量分析表明，孕妇血清中胎儿DNA的平均浓度为30.55拷贝/毫升，胎儿DNA浓度随妊娠进展呈上升趋势，且具有较宽的正常范围。因此，我们可以通过采集早在第7周的母体血清样本来确定胎儿的性别。
Fetal DNA in maternal plasma and serum has been shown to be a useful material for fetal gender determination and for screening tests for abnormal pregnancies except during early gestational ages. Maternal serum samples were obtained from 81 pregnant women during the 5th-10th weeks of gestation. Fetal gender was determined by conventional polymerase chain reaction (PCR) to detect a Y-chromosomal sequence (DYS14) in maternal serum during early gestation and confirmed by examination of the newborns after delivery. Real-time quantitative analyses of the SRY and beta-globin genes were also performed in order to determine fetal gender and to quantify fetal DNA concentration in maternal serum during early gestation. When using conventional PCR, the total sensitivity of identifying a male fetus was 95%, but its sensitivity after the 7th week was 100%, whereas in real-time quantitative PCR, the total sensitivity after the 5th week was 100%. Quantitative analyses of the SRY gene revealed that the mean concentration of fetal DNA in maternal serum was 30.55 copies/ml, that fetal DNA concentration showed a tendency to increase with the progression of pregnancy, and that it had a wide normal range. Thus, we could confidently determine fetal gender by using maternal serum samples taken as early as the 7th week.