Analysis of molar DNA in maternal serum in a case of hydatidiform mole

完全性葡萄胎缺乏胎儿成分，在母体循环中检测到的来自葡萄胎的DNA(葡萄胎DNA)被认为来自绒毛组织。通过实时荧光定量聚合酶链式反应分析46，XY完全性葡萄胎与46，XX正常胎儿分娩前后母血中性别决定区Y(SRY)DNA的含量，证实母血中的DNA来源于绒毛组织。患者是一名30岁的孕妇，第0段。她在怀孕20周时在我们医院接受了检查。超声检查显示胎儿发育正常，无异常，胎盘正常，胎盘为磨牙胎盘。在怀孕28周时，她自发地通过阴道分娩了一个1094克的女婴，胎盘非常正常，还有一个磨牙胎盘。20周时血清β-hCG值为367 747.8 IU/L，随胎龄增加而逐渐下降。β-hCG在…1周时的浓度为147 644.2 U/L产前较多，产后1周迅速降至6512.4 IU/L。产后13周β-hCG浓度降至参考值范围内。β-hCG此后未见升高。孕妇血清中SRY基因拷贝数在妊娠20周时最高，到分娩时拷贝数逐渐减少。在分娩前1周，SRY序列的浓度为124.43拷贝/毫升，产后1周迅速下降至8.24拷贝/毫升。产后5周，SRY基因拷贝数进一步减少，未检测到SRY基因。在本研究中，我们已经证明了来源于完全性葡萄胎的SRY序列存在于母体血清中。因为我们的病例是一个46，XY杂合子完全性葡萄胎和一个正常的46，XX胎儿共存，所以母体循环中的SRY序列完全来自于葡萄胎胎盘组织。然而，在我们的研究中，在分娩前，磨牙DNA的浓度呈现出与hCG相似的模式，hCG被广泛用作磨牙疾病的标志物。研究SRY序列是否也可以在磨牙疾病的复发中检测到，这将是一件有趣的事情。如果是这样的话，母血中的磨牙DNA也可以作为监测磨牙疾病的标志。较少

Complete hydatidiform mole lacks a fetal component, and DNA originating from a hydatidiform mole (molar DNA) that is detected in the maternal circulation is thought to originate from villous tissue. By analyzing by real-time PCR the amount of sex-determining region Y (SRY) DNA in maternal serum before and after delivery of a 46,XY complete hydatidiform mole coexisting with a normal 46,XX fetus, we have confirmed that the DNA in maternal blood originates from villous tissue. The patient was a 30-year-old gravida I, para 0. She was examined at our hospital at 20 weeks of gestation. Ultrasound examination showed a normally grown fetus without anomalies with a normal placenta, and a molar placenta. At 28 weeks of gestation, she spontaneously delivered vaginally a 1094-g female infant with a grossly normal placenta, and a molar placenta. Serum β-hCG was 367 747.8 IU/L at 20 weeks and gradually decreased as a function of gestational age. The β-hCG concentration was 147 644.2 I U/L at 1 week … More before delivery and rapidly decreased to 6512.4 IU/L by 1 week after delivery. The β-hCG concentration had decreased to within reference values by 13 weeks after delivery. No increase in β-hCG was observed thereafter. The highest number of SRY copies in maternal serum was observed at 20 weeks of gestation, and the number of copies decreased toward delivery. The concentration of SRY sequence was 124.43 copies/mL at 1 week before delivery and rapidly decreased to 8.24 copies/mL at 1 week post delivery. The number of SRY copies decreased further, and no SRY was detectable at 5 weeks after delivery. In the present study, we have shown that the SRY sequence derived from a complete hydatidiform mole exists in maternal serum. Because our case here is a 46,XY heterozygous complete hydatidiform mole coexisting with a normal 46,XX fetus, the SRY sequence in maternal circulation originated entirely from molar placental tissue. However, in our study, before delivery, the concentration of molar DNA showed a pattern similar to that of hCG, which is widely used clinically as a marker of molar diseases. It would be interesting to study whether the SRY sequence is also detectable with the recurrence of molar disease. If so, molar DNA in maternal blood could also be used as a marker for monitoring of molar diseases. Less