Kohlschütter A, Rauskolb R, Goebel H H, Anton-Lamprecht I, Albrecht R, Klein H
Department of Pediatrics, University of Hamburg, F.R.G.
Prenat Diagn. 1989 Apr;9(4):289-92. doi: 10.1002/pd.1970090408.
In a family with two children affected by juvenile neuronal ceroid lipofuscinosis (JNCL) an attempt was made at the prenatal diagnosis of the disorder. The following tissues from the fetus at risk were investigated by electron microscopy and were found to be free of fingerprint profiles and curvilinear bodies, typical for JNCL: uncultivated amniotic fluid cells, lymphocytes isolated from fetal blood, and fetal skin biopsy specimens. The child was born at the 34th week of gestation and was clinically normal at the age of 15 months. Postnatally, lymphocytes (isolated at the age of 6 and 15 months) and skin tissue (taken at the age of 15 months) were found to be morphologically normal. It is highly unlikely that the child is affected but definite proof of the absence of JNCL remains difficult at this age.
在一个有两个孩子患青少年神经元蜡样脂褐质沉积症（JNCL）的家庭中，尝试对该疾病进行产前诊断。对处于风险中的胎儿的以下组织进行了电子显微镜检查，发现没有JNCL典型的指纹样结构和曲线体：未培养的羊水细胞、从胎儿血液中分离出的淋巴细胞以及胎儿皮肤活检标本。该婴儿在妊娠34周出生，15个月时临床正常。出生后，（在6个月和15个月时分离的）淋巴细胞和（在15个月时采集的）皮肤组织在形态上是正常的。该儿童受影响的可能性极小，但在这个年龄仍难以确凿证明其未患JNCL。
