Merinero B, Pérez-Cerdá C, Garcia M J, Chadefaux-Vekemans B, Kamoun P, Tonetti C, Zittoun J, Jakobs C, Ugarte M
Departamento Biología Molecular, Universidad Autónoma de Madrid, Spain.
Prenat Diagn. 1998 Sep;18(9):947-52.
Prenatal diagnosis for combined methylmalonic aciduria and homocystinuria was performed in five at-risk pregnancies by determination of methylmalonic acid (MMA) and total homocysteine (Hcy) in amniotic fluid supernatant. The incorporation rate of [14C] propionate (+/- OHCbl) and the synthesis of cobalamin derivatives in cultured amniocytes were investigated as well as the [14C] MTHF incorporation rate in intact chorion biopsy. Our experience showed that total Hcy and MMA were clearly elevated in amniotic fluid of affected fetuses. Both the study of [14C] propionate incorporation and that of cobalamin synthesis in cultured amniocytes are useful to confirm the results of metabolite determination. The incorporation of [14C] MTHF in intact chorion biopsy seems not to be a reliable diagnostic method.
通过测定羊水上清液中的甲基丙二酸（MMA）和总同型半胱氨酸（Hcy），对5例有风险的妊娠进行了甲基丙二酸尿症合并同型胱氨酸尿症的产前诊断。研究了[14C]丙酸盐（±OHCbl）在培养羊水中的掺入率以及钴胺素衍生物的合成，同时也研究了完整绒毛活检中[14C]亚甲基四氢叶酸（MTHF）的掺入率。我们的经验表明，受影响胎儿的羊水中总Hcy和MMA明显升高。培养羊水中[14C]丙酸盐掺入研究和钴胺素合成研究均有助于证实代谢物测定结果。完整绒毛活检中[14C]MTHF的掺入似乎不是一种可靠的诊断方法。
