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通过流式细胞仪对脐血进行 LAD-I 的产前诊断。

Prenatal diagnosis of LAD-I on cord blood by flowcytometry.

机构信息

National Institute of Immunohematlogy, Pediatric Immunology and Leukocyte Biology, 13th Flr, KEM Hospital, Parel, Mumbai, Maharashtra, 400012, India.

出版信息

Indian J Pediatr. 2012 Dec;79(12):1605-9. doi: 10.1007/s12098-012-0737-5. Epub 2012 Apr 4.

Abstract

OBJECTIVES

To optimize a simple flowcytometric technique for Prenatal diagnosis (PND) for Leukocyte adhesions defect (LAD-I) on cordocentesis sample at 18 wk gestation.

METHODS

Normal reference ranges for expression of CD18/CD11-integrins in neutrophils and lymphocytes at 18 wk of gestation were established by flowcytometry. PND for LAD-I was then performed on the cordocentesis samples in three 'at risk' pregnancies after ruling out maternal contamination.

RESULTS

CD18 and CD11a expression on fetal lymphocytes were found to be the most useful parameters for PND of LAD-I. All the three fetuses tested showed normal expression of CD18/CD11-integrins and thus were unaffected. This was confirmed by testing the cord blood (CB) samples after delivery and normal growth and absence of serious infections on follow-up.

CONCLUSIONS

Flowcytometry offers a rapid and sensitive technique for PND of LAD-I in the absence of facilities for molecular diagnosis. Obstetricians, even in developing countries with modest facilities, can offer considerable relief for the families.

摘要

目的

优化一种简单的流式细胞术技术,用于在 18 孕周的脐带穿刺样本中进行白细胞黏附缺陷症(LAD-I)的产前诊断(PND)。

方法

通过流式细胞术,建立了 18 孕周时中性粒细胞和淋巴细胞中 CD18/CD11-整合素表达的正常参考范围。在排除母体污染后,对 3 例“高危”妊娠的脐带穿刺样本进行了 LAD-I 的 PND。

结果

发现胎儿淋巴细胞上的 CD18 和 CD11a 表达是 LAD-I PND 最有用的参数。所有 3 例检测的胎儿均表现出正常的 CD18/CD11-整合素表达,因此未受影响。这通过分娩后检测脐带血(CB)样本以及随访中正常的生长和无严重感染得到了证实。

结论

在没有分子诊断设施的情况下,流式细胞术为 LAD-I 的 PND 提供了一种快速、敏感的技术。即使在设施简陋的发展中国家,妇产科医生也能为家庭提供很大的帮助。

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