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以妊娠中期羊膜腔穿刺为依据的产前诊断,继之以有选择地对部分病胎所作的终止妊娠处理,是目前控制遗传性疾病的一个最重要手段。近10年来,羊膜腔穿刺术已取得广泛经验,在有经验的研究者们手中,手术安全可靠。然而,该术在实际应用中仍有不少关系颇大的限制。很多严重的先天性疾病,当妊娠具有一定风险时,往往由于在识别上有具体困难而未能作出诊断。加之,对于具有高度风险的孕妇来说,她们对进行妊娠中期诊断亦存在很大顾虑。以受孕8～10周绒毛膜绒毛标本为依据的早期产前诊断这一方法已开始进入临床实用。目前,此技术虽尚处于研究阶段,但作为临床应用的相当大的潜在可能性在不断增加。现今,对绒毛膜绒毛标本进行细胞遗传、生化和 DNA 的分析已有可能开展,但技术之最终付诸应用,需视与之关联的产科危险性而定,关于后者,至今尚未能清楚地确定下来。
Prenatal diagnosis based on amniocentesis in the second trimester of pregnancy followed by selective termination of some pregnancies is the most important means of controlling genetic disease. In the past 10 years, amniocentesis has gained extensive experience and is safe and reliable in the hands of experienced researchers. However, there are still many related limitations in the practical application of the technique. Many serious congenital diseases, when there is a certain risk of pregnancy, often fail to make a diagnosis due to specific difficulties in identification. In addition, for pregnant women with a high risk, there are also great concerns about mid-pregnancy diagnosis. The method of early prenatal diagnosis based on chorionic villus samples from 8 to 10 weeks of pregnancy has begun to enter clinical practice. At present, although this technology is still in the research stage, there is a considerable potential increase as a clinical application. Nowadays, the analysis of cytogenetics, biochemistry and DNA analysis of chorionic villus specimens has been possible, but the ultimate application of the technique depends on the obstetric risks associated with it, and so far the latter has not yet been clarified Determine the place.