DETECTION OF FETAL DNA IN TRANS-CERVICAL SWABS FROM 1ST TRIMESTER PREGNANCIES BY GENE AMPLIFICATION - A NEW ROUTE TO PRENATAL-DIAGNOSIS
DETECTION OF FETAL DNA IN TRANS-CERVICAL SWABS FROM 1ST TRIMESTER PREGNANCIES BY GENE AMPLIFICATION - A NEW ROUTE TO PRENATAL-DIAGNOSIS
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DOI：
10.1111/j.1471-0528.1992.tb13792.x
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发表时间：
1992-06-01
期刊：
影响因子：
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通讯作者：
BULMER, J
中科院分区：
文献类型：
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作者：
GRIFFITHJONES, MD;MILLER, D;BULMER, J
目的确定是否可以预测胎儿性别的胎儿DNA transcervically从子宫腔的下部在妊娠的头三个月，设计前瞻性观察研究，设置圣詹姆斯大学医院，利兹受试者33名妇女接受法律的终止妊娠在9至13周的孕龄。干预措施终止妊娠前的DNA分析样本获得与棉拭子从阴道，宫颈和经宫颈在26名妇女。在其他7名妇女的样本中获得使用transcerebrovascular细胞检索（TraCeR）的程序，涉及冲洗下子宫腔与5毫升salines.Main结果measures检测Y-染色体特异性DNA序列的聚合酶链反应（PCR）在棉花拭子从子宫下部在怀孕的头三个月，以预测胎儿的性别与标准的细胞遗传学分析比较。组织学和免疫组化分析获得的样品冲洗子宫下腔（TraCeR），以确认滋养层细胞的存在。结果胎儿性别准确预测25的26例妊娠调查。免疫组化分析确定了合胞体滋养细胞片段在所有7例妊娠TraCeR.Conclusion滋养细胞可以检索从子宫下部在孕早期拭子或TraCeR。当这些合胞体片段的纯化可以使用免疫磁性技术实现时，该测试将通过聚合酶链反应实现胎儿单基因缺陷的产前诊断。
Objective To determine whether fetal sex can be predicted from fetal DNA retrieved transcervically from the lower part of the uterine cavity in the first trimester of pregnancy.Design Prospective observational study.Setting St James's University Hospital, Leeds.Subjects 33 women undergoing legal termination of pregnancy at 9 to 13 weeks gestational age. Interventions Before termination of pregnancy samples for DNA analysis were obtained with cotton wool swabs from the vagina, cervix and transcervically in 26 women. In the other seven women samples were obtained using a transcervical cell retrieval (TraCeR) procedure involving flushing the lower uterine cavity with 5 ml saline.Main outcome measures Detection of Y-chromosome specific DNA sequences by the polymerase chain reaction (PCR) in cotton wool swabs taken from the lower uterus in the first trimester of pregnancy to predict fetal sex in comparison with standard cytogenetic analysis. Histological and immunohistochemical analysis of samples obtained by flushing of the lower uterine cavity (TraCeR) to confirm the presence of trophoblast.Results Fetal sex was predicted accurately in 25 of the 26 pregnancies investigated. Immunohistochemical analysis identified syncytial trophoblast fragments in all seven pregnancies investigated by TraCeR.Conclusion Trophoblast may be retrieved from the lower uterus in the first trimester by swabs or TraCeR. When purification of these syncytial fragments can be achieved using immuno-magnetic technology, this test will enable prenatal diagnosis of single gene defects in the fetus by the polymerase chain reaction.