通过检测胎儿白细胞对晚期妊娠中晚期婴儿型异染性脑白质营养不良进行产前排除。
Prenatal exclusion of late infantile metachromatic leucodystrophy in a late-presenting pregnancy by assay of fetal leucocytes.
作者信息
Rodeck C H, Fensom A H, Benson P F, Ellis M
出版信息
Prenat Diagn. 1983 Jul;3(3):257-9. doi: 10.1002/pd.1970030313.
PMID:6137816
Abstract
Metachromatic leucodystrophy was excluded in a fetus at risk, by assay of fetal blood collected at fetoscopy. Isolated fetal leucocytes were shown to have activities of arylsulphatase A and cerebroside sulphatase in the heterozygous range. The prediction was confirmed in the newborn.
摘要
通过对胎儿镜检查时采集的胎儿血液进行检测，排除了一名有患病风险胎儿的异染性脑白质营养不良症。结果显示，分离出的胎儿白细胞中芳基硫酸酯酶A和脑苷脂硫酸酯酶的活性处于杂合子范围内。这一预测在新生儿身上得到了证实。
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