【摘要】 遗传疾病的产前诊断技术在我国才刚刚开展。本文报道总结一百例染色体和甲胎蛋白宫内检查的结果。其中一例平衡易位、4例无脑畸形及两例性连锁遗传疾病,胎儿被流产。由此表明产前诊断是预防某些遗传疾病的有效措施之一。更多还原

【Abstract】 In China, the research on prenatal diagnosis of human genetic diseases has just begun. The results of diagnosis of 100 pregnancies are presented in this report. Among these cases, 71% (71 out of 100 eases) were chromosome analysis. The remainders (29%) were neural tube defects (table 1). Four cases of neural tube defects, one case of balanced chromosomal translocation [i.e. 46, XY, t(4;5) (4pter →4q 35:: 5q 13→ 5qter; 5pter→5q 13:: 4q 3 5→4qter) ], and two cases of sex-linked diseases were aborted. The prenatal diagnosis of balanced translocation and X-linked diseases were discussed.更多还原