Dumez Y, Goossens M, Poenaru L, Henrion R
J Genet Hum. 1984 Dec;32(5):335-44.
We describe an original technique for villi sampling using a rigid forceps under ultrasound control. 120 chorion biopsies were performed, the success rate of sampling is 100%, the samples are pure without any maternal contamination in 90% of cases. The fetal loss rate needs further evaluation because the number of continuing pregnancies is still too small to allow enough accurate assessment. No miscarriage was observed among our last 70 patients. At the beginning of our experience we preferred to start our diagnoses only for high genetic risk diseases: haemoglobinopathies, hereditary metabolic diseases, lethal X-linked diseases. We insist on the efficiency and the quickness of this method and on the quality of the samples which makes the diagnosis safer.
我们描述了一种在超声控制下使用刚性钳进行绒毛取样的原创技术。共进行了120次绒毛膜活检，取样成功率为100%，90%的病例样本纯净，无任何母体污染。由于持续妊娠的数量仍然太少，无法进行足够准确的评估，胎儿丢失率需要进一步评估。在我们最后70例患者中未观察到流产情况。在我们经验的初期，我们更倾向于仅针对高遗传风险疾病进行诊断：血红蛋白病、遗传性代谢疾病、致死性X连锁疾病。我们强调这种方法的高效性、快速性以及样本质量，这使得诊断更安全。
