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以前产前诊断瓜氨酸血症、精氨基琥珀酸尿、丙酸血症、甲基丙二酸血症都是根据直接或间接分析妊娠第12周的绒毛(CV)酶活性,并通过妊娠16～18周羊水细胞(AF)直接对胎儿所分泌的代谢物进行化学分析,以检验第12周 CV 酶活性的结果。目前提出对妊娠第11周的 AF 中所蓄积的代谢产物进行直接化学分析是检测上述四种代谢性疾病的一种快速、可靠的产前诊断方法。
Previously, prenatal diagnosis of citrullinemia, arginosuccinateuria, propionatemia, and methylmalonic acidemia were all based on direct or indirect analysis of villus (CV) enzyme activity at 12 weeks gestation and pregnancy 16-18 weeks of amniotic fluid cells (AF) were directly metabolized by the fetus metabolites to test the results of the first 12 weeks of CV enzyme activity. It is currently proposed that direct chemical analysis of metabolites accumulated in the first trimester of pregnancy is a rapid and reliable prenatal diagnosis of the above four metabolic diseases.