Lo Y M, Tein M S, Lau T K, Haines C J, Leung T N, Poon P M, Wainscoat J S, Johnson P J, Chang A M, Hjelm N M
Department of Chemical Pathology, The University of Hong Kong, Prince Wales Hospital, Shatin, New Territories, Hong Kong.
Am J Hum Genet. 1998 Apr;62(4):768-75. doi: 10.1086/301800.
We have developed a real-time quantitative PCR assay to measure the concentration of fetal DNA in maternal plasma and serum. Our results show that fetal DNA is present in high concentrations in maternal plasma, reaching a mean of 25.4 genome equivalents/ml (range 3.3-69. 4) in early pregnancy and 292.2 genome equivalents/ml (range 76. 9-769) in late pregnancy. These concentrations correspond to 3.4% (range 0.39%-11.9%) and 6.2% (range 2.33%-11.4%) of the total plasma DNA in early and late pregnancy, respectively. Sequential follow-up study of women who conceived by in vitro fertilization shows that fetal DNA can be detected in maternal serum as early as the 7th wk of gestation and that it then increases in concentration as pregnancy progresses. These data suggest that fetal DNA can be readily detected in maternal plasma and serum and may be a valuable source of material for noninvasive prenatal diagnosis.
我们研发了一种实时定量聚合酶链反应检测方法，用于测定孕妇血浆和血清中胎儿DNA的浓度。我们的研究结果表明，孕妇血浆中存在高浓度的胎儿DNA，在妊娠早期平均达到25.4基因组当量/毫升（范围为3.3 - 69.4），在妊娠晚期为292.2基因组当量/毫升（范围为76.9 - 769）。这些浓度分别相当于妊娠早期和晚期血浆总DNA的3.4%（范围为0.39% - 11.9%）和6.2%（范围为2.33% - 11.4%）。对通过体外受精受孕的女性进行的连续随访研究表明，早在妊娠第7周就能在孕妇血清中检测到胎儿DNA，并且随着妊娠进展其浓度会升高。这些数据表明，胎儿DNA能够在孕妇血浆和血清中轻易检测到，可能是无创产前诊断的宝贵材料来源。
