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一个28岁的初孕妇在孕16周时母血清中不能测到甲胎蛋白(AFP),生下一个18三体的婴儿。这一偶然发现引起对产前诊断染色体异常的回顾研究。在3,862例羊膜腔穿刺中,42例胎儿为常染色体三体性,其母血清 AFP 值明显低于正常对照组(P<0.001)。出生这些患儿的母亲中68%年龄小于34岁,低予预期生常染色体三体儿的年龄。
A 28-year-old early pregnant woman can not detect AFP in her serum at 16 weeks of gestation and gives birth to an 18 trisomy. This accidental discovery caused a retrospective study of prenatal diagnosis of chromosomal abnormalities. In 3,862 cases of amniocentesis, 42 fetuses were autosomally trisomy, and the AFP value of maternal serum was significantly lower than that of the normal control group (P <0.001). Sixty-eight percent of mothers born with these infants were less than 34 years of age and were below the expected age of the autosomal trisomy.