Presence of fetal DNA in maternal plasma decades after pregnancy
Presence of fetal DNA in maternal plasma decades after pregnancy
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DOI：
10.1007/s00439-002-0725-3
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发表时间：
2002-06-01
期刊：
影响因子：
5.3
通讯作者：
Simoni, G
中科院分区：
文献类型：
--
作者：
Invernizzi, P;Biondi, ML;Simoni, G
胎儿来源的细胞和无细胞的胎儿DNA可以在怀孕期间的母体循环中检测到，最近已经表明，胎儿细胞可以在分娩后长期存在。考虑到这一事实的各种生物学和临床意义，我们测试了无细胞胎儿DNA可以在怀孕后几十年存在于母体血浆中的假设。我们从1 - 60名生育男性后代的健康女性的血浆样本和有核血细胞中提取DNA，在分娩后的不同时间间隔（范围1-60年）。所有的样本进行了测试的手段，一个特定的Y染色体序列（SRY基因）的实时定量PCR测定。16例外周血细胞样本（10%）和35例血浆样本（22%）中检测到Y染色体特异性DNA。细胞分数中具有男性序列的女性具有显著更高的总产次（P = 0.018）。在血浆或细胞样本中可检测到Y序列的女性比例与分娩后的时间无关。从血浆样本中提取的基因组材料中的胎儿DNA浓度显著高于从Y阳性细胞样本中提取的胎儿DNA浓度（149 +/-140 vs 20 +/-13基因组当量/ml; P < 0.001）。胎儿DNA浓度与分娩时间无关。不仅胎儿细胞，而且胎儿DNA片段可以在怀孕后无限期地存在于母体循环中。这一发现对基于母体血液的非侵入性产前诊断具有实际意义，并可考虑可能的病理生理相关性。
Cells of fetal origin and cell-free fetal DNA can be detected in the maternal circulation during pregnancy, and it has recently been shown that fetal cells can persist long after delivery. Given the various biological and clinical implications of this fact, we tested the hypothesis that cell-free fetal DNA can be present in maternal plasma decades after pregnancy. We extracted DNA from plasma samples and nucleated blood cells of 160 healthy women with male offspring at different time intervals after delivery (range 1-60 years). All of the samples were tested by means of a real-time quantitative PCR assay for a specific Y chromosome sequence (the SRY gene). Y chromosome-specific DNA was detected in 16 peripheral blood cell samples (10%) and 35 plasma samples (22%). The women with male sequences in the cell fraction had significantly greater total parity (P = 0.018). The proportion of women with detectable Y sequences in the plasma or cell samples was not related to the time since delivery. The fetal DNA concentrations in the genomic material extracted from plasma samples were significantly higher than those extracted from the Y-positive cell samples (149 +/- 140 vs 20 +/- 13 genome-equivalents/ml; P < 0.001). There was no relationship between the concentration of fetal DNA and the time since delivery. Not only fetal cells, but also fragments of fetal DNA can be present in the maternal circulation indefinitely after pregnancy. This finding has practical implications for non-invasive prenatal diagnoses based on maternal blood, and may be considered for possible pathophysiological correlations.