产前诊断技术的研究进展

摘要

Prenatal diagnosis is an important technological measurement for prevention birth defect. In the recent years, there have been great advances in prenatal screening. The modern biology, biochemistry, immune genetics, cytogenetics and molecular genetics technologies are applied to detect the fetal growth status in the uteruses and diagnose genetic defects and congenital malformations. Prenatal diagnosis is implemented by a variety of invasive and non-invasive techniques and based on mother and or fetal/ embryonic cells. This paper reviews various prenatal diagnostic methods and evaluates their advantage, shortage and prospect.%产前诊断是优生优育和预防缺陷儿出生的重要手段.它是在遗传咨询的基础上,应用现代生物学、生物化学、免疫遗传学、细胞遗传学、分子遗传学等技术,通过母体检查或对胚胎(胎儿)直接检测,了解胎儿在子宫内的生长发育状况,诊断胎儿是否有遗传缺陷及先天畸形.本文就各种产前诊断方法、最新技术、存在的不足与困难、以及发展前景综述如下.