[利用从子宫颈不同部位获取的胎儿细胞进行早期产前诊断：一项初步研究]

Departmet of Obstetrics and Gynecology, Shanghai Medical College of Fudan University, Shanghai 200032, China.

Zhonghua Yi Xue Za Zhi. 2006 Sep 5;86(33):2343-7.

OBJECTIVE

To compare the presence of fetal cells in the transcervical lavage fluids obtained at different levels of uterine cervix so as to evaluate the better sampling place for early prenatal diagnosis.

METHODS

Sixty samples of transcervical lavage fluid were obtained at the level of the internal orificium of cervix of 60 women during the 5 - 10th week of pregnancy who underwent artificial abortion (internal orificium group), and 60 samples of transcervical lavage fluid were obtained at the level of the external orificium of cervix of 60 women the same age during the 5 - 10th week of pregnancy who underwent artificial abortion too (external orificium group). Extraction and amplification of DNA were conducted by females to detect the presence of SRY gene of Y chromosome. The sex of the fetus was determined by chromosome karyotyping of the villi.

RESULTS

(1) In the internal orificium group Y-derived sequences were detected in 71.4% (15/21) of the samples of known male pregnancy and 5.13% (2/39) cases of known female pregnancy, with a total correct sex prediction rate of 86.7%; In the external orificium group Y-derived sequences could be amplified in 37% (10/27) of the samples of known male pregnancy and 6.25% (2/32) of the samples of known female pregnancy, with a total correct sex prediction rate of 67.8%, significantly lower than that of the internal orificium group (P < 0.05). (2) The number of the copies of SRY gene of Y chromosome of the internal orificium group was 1487.17 +/- 430.45 copies, significantly higher than that of the external orificium group (702.41 +/- 365.71 copies, P < 0.05).

CONCLUSION

Transcervical cell sampling provides a promising approach for early non-invasive prenatal diagnosis. More fetal cells can be acquired at the internal orificium level of cervix than at the external orificium level, however, more non-invasive and efficient sampling method should be taken.

目的

比较在子宫颈不同水平获取的经宫颈灌洗液中胎儿细胞的存在情况，以评估早期产前诊断的更佳采样部位。

方法

在妊娠5至10周行人工流产的60名妇女的子宫颈内口水平获取60份经宫颈灌洗液样本（内口组），并在相同年龄、妊娠5至10周且也行人工流产的60名妇女的子宫颈外口水平获取60份经宫颈灌洗液样本（外口组）。由女性进行DNA提取和扩增，以检测Y染色体SRY基因的存在。通过绒毛染色体核型分析确定胎儿性别。

结果

（1）在内口组中，已知男性妊娠样本的71.4%（15/21）和已知女性妊娠病例的5.13%（2/39）检测到Y衍生序列，总性别预测正确率为86.7%；在外口组中，已知男性妊娠样本的37%（10/27）和已知女性妊娠样本的6.25%（2/32）可扩增出Y衍生序列，总性别预测正确率为67.8%，显著低于内口组（P<0.05）。（2）内口组Y染色体SRY基因的拷贝数为1487.17±430.45拷贝，显著高于外口组（702.41±365.71拷贝，P<0.05）。