Tharapel S A, Dev V G
Department of Pediatrics, University of Tennessee, Memphis 38163, USA.
Am J Med Genet. 1997 Oct 31;72(3):351-3. doi: 10.1002/(sici)1096-8628(19971031)72:3<351::aid-ajmg20>3.0.co;2-r.
Using spontaneously dividing nucleated erythrocytes present in newborn cord and peripheral blood, we performed direct karyotype analysis on a cohort of 162 infants suspected of chromosome abnormalities. A cytogenetic diagnosis was obtained in 149 cases (91.9%). In all cases conventional phytohaemagglutinin- (PHA)-stimulated cultures were used for comparison. Concordance between direct and stimulated karyotypes was seen in all but 5 cases. In these 5 cases, abnormalities were seen in the direct harvest while PHA-stimulated cultures showed normal results. Skin fibroblasts from 2 of these cases, available for follow-up, showed the abnormalities in a mosaic state. Our experience confirms that direct karyotyping of fetal and newborn blood is feasible, fast, and efficient and can provide accurate diagnosis of major chromosome abnormalities within 18-24 hours after obtaining the blood.
我们利用新生儿脐带血和外周血中自发分裂的有核红细胞，对162名疑似染色体异常的婴儿进行了直接核型分析。149例（91.9%）获得了细胞遗传学诊断。所有病例均采用传统的植物血凝素（PHA）刺激培养进行对比。除5例病例外，直接核型和刺激后核型结果一致。在这5例病例中，直接收获的样本可见异常，而PHA刺激培养结果正常。其中2例病例有可供后续检测的皮肤成纤维细胞，显示为嵌合状态的异常。我们的经验证实，胎儿和新生儿血液的直接核型分析可行、快速且高效，能在采血后18 - 24小时内对主要染色体异常做出准确诊断。
