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Prenatal diagnostic procedure for leukocyte adhesion deficiency
R S Weening1, R G Bredius, H Wolf
1Emma Children's Hospital, Department of Paediatrics, Amsterdam, The Netherlands.
Prenatal Diagnosis
|March 1, 1991
Summary
Prenatal diagnosis for Leukocyte Adhesion Deficiency (LAD) is crucial. This study successfully used cordocentesis to confirm normal leukocyte cell adhesion molecule (LeuCAM) expression in a fetus at risk for LAD, preventing the disorder.
Area of Science:
- Immunology
- Genetics
- Pediatrics
Background:
- Leukocyte Adhesion Deficiency (LAD) is a rare, severe autosomal recessive disorder characterized by recurrent infections due to impaired leukocyte function.
- LAD results from absent or deficient leukocyte cell adhesion molecules (LeuCAMs) on leukocyte membranes, essential for immune cell migration.
- Diagnosis typically involves monoclonal antibody testing against LeuCAMs.
Observation:
- A prenatal diagnostic procedure was performed via cordocentesis on a 20-week pregnant mother with a history of a child diagnosed with severe LAD.
- The previous child exhibited undetectable mRNA for the beta chain, a common subunit of LeuCAMs, indicating a severe form of LAD.
- Fetal granulocytes were analyzed for LeuCAM expression during the prenatal diagnostic procedure.
Findings:
- Fetal granulocytes demonstrated normal expression of leukocyte cell adhesion molecules (LeuCAMs).
- The prenatal diagnosis indicated the fetus was not affected by the severe form of LAD seen in the previous sibling.
- The infant was born physically normal with no signs of impaired leukocyte functions, confirming the prenatal findings.
Implications:
- Prenatal diagnosis for LAD enables early identification and management of affected infants.
- Confirming normal LeuCAM expression prenatally provides reassurance and allows for appropriate birth planning.
- This case highlights the successful application of cordocentesis for diagnosing genetic immunodeficiencies like LAD, preventing severe infections in newborns.