Mirenburg T V, Aronovich E L, Lebedeva T V, Akhunov V S, Krasnopol'skaia K D
Vopr Med Khim. 1988 Jul-Aug;34(4):41-6.
Prenatal diagnosis was carried out in 10 families suffering from lysosomal diseases: Tay-Sachs disease--5 families, Sandhoff disease--1 family, GM1-gangliosidosis--1 family and Hunter disease--3 families. Diagnosis of Tay-Sachs disease was excluded in fetuses of two families, Sandhoff disease--in one family, GM1-gangliosidosis--in one family, Hunter disease--in two families. Tay-Sachs disease was found in two fetuses and in one neonate. In two fetuses was found Hunter disease (twin pregnancy). The results of prenatal diagnosis were corroborated by postnatal studies of the neonates funicular blood and of autopsies of the aborted fetuses tissues. Application of several independent procedures for prenatal diagnosis of hereditary lysosomal diseases enabled to exclude erroneous diagnosis.
对10个患有溶酶体疾病的家庭进行了产前诊断:泰-萨克斯病——5个家庭,桑德霍夫病——1个家庭,GM1神经节苷脂贮积症——1个家庭,亨特病——3个家庭。两个家庭的胎儿排除了泰-萨克斯病诊断,一个家庭排除了桑德霍夫病诊断,一个家庭排除了GM1神经节苷脂贮积症诊断,两个家庭排除了亨特病诊断。在两个胎儿和一个新生儿中发现了泰-萨克斯病。在两个胎儿(双胎妊娠)中发现了亨特病。新生儿脐带血和流产胎儿组织尸检的产后研究证实了产前诊断的结果。应用多种独立程序对遗传性溶酶体疾病进行产前诊断能够排除错误诊断。