目前,宫内胎儿性别、染色体异常和酶缺陷正确诊断的唯一可能是在妊娠中期通过羊膜穿刺获取羊水做细胞培养。虽有一些早期产前诊断的报告,但其远期效果还有待深入研究。作者为寻找一种早期诊断方法,对在妊娠前3个月内的孕妇做绒毛膜活检,研究获取标本的安全方法,为了检测某些代谢蓄积病,同时对标本测定了酶活性。 Currently, the only possibility of correct diagnosis of intrauterine fetal sex, chromosomal abnormalities and enzyme defects is amniocentesis by amniocentesis during the second trimester of pregnancy for cell culture. Although there are some reports of early prenatal diagnosis, its long-term effect needs further study. In an effort to find an early diagnostic method for chorionic biopsy of pregnant women within the first 3 months of gestation, the authors studied the safe method of obtaining samples and, in the meantime, measured the enzyme activity in order to detect some metabolic diseases.