Abstract：
BACKGROUND: The current detection of fetal chromosomal abnormalities by non-invasive prenatal testing (NIPT) mainly relies on the cell free DNA(cfDNA) in the maternal blood. However, a gestational age of less than 12 weeks or a high maternal BMI affects cfDNA fetal fraction and further the detection by NIPT negatively. In this study, we aim to retrieve the trophoblast cells from the maternal cervix to develop a new sampling method for NIPT enabling an earlier use of NIPT.
METHODS: We enrolled three patients who wanted to undergo induced abortion at Beijing Hospital between January 2022 and March 2022. Peripheral blood, cervix specimen, and the abortion tissue were collected and processed for each patient. Allele frequencies of the mutated gene loci of the maternal blood and the cervix sample were compared and the Sex Determining Region Y (SRY) gene was tested.
RESULTS: The allele frequencies of the mutated gene loci showed no significant difference between the maternal blood and the cervix sample. But we successfully detected signal of the SRY gene in the cervix sample of the only patient carrying a male fetus.
CONCLUSIONS: The detection of the SRY gene in a cervix sample indicated a successful retrieval of trophoblast cells from the cervix canal. Further study needs to be conducted to verify our finding before its application to the clinical settings.
METHODS: We enrolled three patients who wanted to undergo induced abortion at Beijing Hospital between January 2022 and March 2022. Peripheral blood, cervix specimen, and the abortion tissue were collected and processed for each patient. Allele frequencies of the mutated gene loci of the maternal blood and the cervix sample were compared and the Sex Determining Region Y (SRY) gene was tested.
RESULTS: The allele frequencies of the mutated gene loci showed no significant difference between the maternal blood and the cervix sample. But we successfully detected signal of the SRY gene in the cervix sample of the only patient carrying a male fetus.
CONCLUSIONS: The detection of the SRY gene in a cervix sample indicated a successful retrieval of trophoblast cells from the cervix canal. Further study needs to be conducted to verify our finding before its application to the clinical settings.
摘要：
背景：当前通过非侵入性产前检测（NIPT）检测胎儿染色体异常主要依赖于母体血液中的无细胞DNA（cfDNA）。然而,小于12周的胎龄或较高的母体BMI会影响cfDNA胎儿分数，并进一步对NIPT的检测产生负面影响。在这项研究中,我们旨在从母体子宫颈中提取滋养细胞,以开发一种新的NIPT采样方法,从而能够更早地使用NIPT.
方法：我们在2022年1月至2022年3月期间在北京医院招募了3名希望进行人工流产的患者。外周血,子宫颈标本,收集和处理每位患者的流产组织。比较母体血液和子宫颈样品的突变基因位点的等位基因频率，并测试性别决定区Y（SRY）基因。
结果：突变基因位点的等位基因频率在母体血液和宫颈样本之间没有显着差异。但是我们成功地在唯一携带男性胎儿的患者的子宫颈样本中检测到SRY基因的信号。
结论：在宫颈样本中检测到SRY基因表明成功地从子宫颈管中回收了滋养层细胞。在将其应用于临床设置之前，需要进行进一步的研究以验证我们的发现。
方法：我们在2022年1月至2022年3月期间在北京医院招募了3名希望进行人工流产的患者。外周血,子宫颈标本,收集和处理每位患者的流产组织。比较母体血液和子宫颈样品的突变基因位点的等位基因频率，并测试性别决定区Y（SRY）基因。
结果：突变基因位点的等位基因频率在母体血液和宫颈样本之间没有显着差异。但是我们成功地在唯一携带男性胎儿的患者的子宫颈样本中检测到SRY基因的信号。
结论：在宫颈样本中检测到SRY基因表明成功地从子宫颈管中回收了滋养层细胞。在将其应用于临床设置之前，需要进行进一步的研究以验证我们的发现。
