Levinsky R J, Linch D C, Beverly C L, Rodeck C
Arch Dis Child. 1982 Dec;57(12):958-60. doi: 10.1136/adc.57.12.958.
By analysing leucocyte subpopulations with monoclonal antisera, we have shown that the diagnosis of severe combined immunodeficiency can be made soon after birth. The technique of staining has been adapted for small blood samples, and normal ranges of leucocyte subpopulations have been established for fetal blood taken from mid-trimester pregnancies. Using this information, we gave prenatal advice to an at risk family and predicted that the pregnancy would be normal; this was confirmed after birth. This technique should allow prenatal diagnosis for severe combined immunodeficiency, especially if the phenotype of a previously affected child is known.
通过用单克隆抗血清分析白细胞亚群,我们已经表明,严重联合免疫缺陷的诊断在出生后不久即可做出。染色技术已适用于少量血液样本,并且已经确定了孕中期妊娠胎儿血液中白细胞亚群的正常范围。利用这些信息,我们向一个有风险的家庭提供了产前建议,并预测该妊娠将是正常的;出生后得到了证实。这项技术应能实现严重联合免疫缺陷的产前诊断,特别是如果已知先前患病儿童的表型。