Aula P, Mattila K, Piiroinen O, Ammälä P, Von Koskull H
Department of Medical Genetics, University Central Hospital Turku, Finland.
Prenat Diagn. 1989 Sep;9(9):617-20. doi: 10.1002/pd.1970090904.
Fetal aspartylglucosaminuria (AGU) was studied during the first trimester of pregnancy in six at-risk pregnancies using chorionic villus samples. The activity of aspartylglucosaminidase (AGA) was high in five cases, indicating an unaffected fetus. This was confirmed through delivery of healthy newborns with a normal pattern of urinary oligosaccharides. Low enzyme activity in an uncultured biopsy specimen and in cultured amniotic fluid cells in one case demonstrated that the fetus was affected. The pregnancy was terminated and the prenatal diagnosis was confirmed by showing reduced AGA activity in cultured fibroblasts of the fetus.
利用绒毛取样对6例有胎儿天冬氨酰葡糖胺尿症（AGU）风险的妊娠进行了孕早期研究。5例的天冬氨酰葡糖胺酶（AGA）活性较高，表明胎儿未受影响。这通过分娩出尿寡糖模式正常的健康新生儿得到了证实。1例中，未培养的活检标本和培养的羊水细胞中的酶活性较低，表明胎儿受到了影响。该妊娠被终止，通过显示胎儿培养成纤维细胞中AGA活性降低，产前诊断得到了证实。
