Xin-hua Bao, Li-li Ping, Ai-hua Wang, Hong Pan, Ye Wu, Hui Xiong, Yue-hua Zhang, Chun-yan Shi, Jiong Qin, Xiru Wu
OBJECTIVE: To make prenatal dignosis of X-linked adrenoleukodystrophy (ALD) for the prevention of the disease. METHODS: Eighteen amniocenteses were performed on 17 suspected carriers of X-ALD during 18-30 gestation weeks. The very long chain fatty acids (VLCFAs) levels of cultured amniocytes were tested by gas chromatography-mass spectrometry (GC/MS). The plasma VLCFAs levels were measured in 8 of the 18 prenatal diagnosed children when they were born or after abortion...
February 2007: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics