Prenatal diagnostic procedure for leukocyte adhesion deficiency |
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| Authors: | R S Weening Md PhD R G- M Bredius H Wolf C E van der Schoot |
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| Institution: | 1. Emma Children's Hospital, Department of Paediatrics, Academic Medical Centre, Amsterdam, The Netherlands;2. Department of Obstetrics, Academic Medical Centre, Amsterdam, The Netherlands;3. Central Laboratory of the Netherlands Red Cross Blood Transfusion Service (CLB) and Laboratory for Experimental and Clinical Immunology, University of Amsterdam, The Netherlands |
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| Abstract: | Leukocyte adhesion deficiency (LAD) is a rare autosomal recessive disorder which leads to recurrent severe infections due to impaired leukocyte functions. The disorder is caused by an absence or deficiency of leukocyte cell adhesion molecules (LeuCAMs) on the leukocyte membranes. The diagnosis is established with monoclonal antibodies against the LeuCAMs. We have carried out a prenatal diagnostic procedure by means of cordocentesis in a mother who was 20 weeks pregnant and had previously given birth to a child with LAD. This previous child had the severe form of LAD with undetectable mRNA for the β chain, the common subunit of the LeuCAMs. We found that the fetal granulocytes expressed the LeuCAMs normally. At birth, the baby was physically normal and showed no signs of impaired leukocyte functions. |
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| Keywords: | Leukocyte adhesion deficiency |
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