Genotyping of Human Platelet Alloantigens : Non-invasive Prenatal Diagnosis

Plain-language summary

Neonatal thrombocytopenia isoimmunization maternal-fetal is related to maternal immunization against fetal platelet antigens with paternal origin not present in the mother. It is considered the equivalent of hemolytic disease of the newborn. The incidence of this disease is about 1 in 800-1000 births. The most severe forms associated petechiae, purpura or cephalhematoma at birth with a major risk of cerebral hemorrhages (20% to 25% of cases) can cause the death of the child (15%) or severe neurological troubles (15-30%) Biologic diagnosis requires the detection of anti-platelet antibodies with maternal determination of platelet phenotypes and genotypes of the two parents. The objective of this work is to develop specific molecular tools to fetal platelet genotyping from maternal blood. We are particularly interested to antigens HPA-1, HPA-5 , HPA-3 and HPA-4. We evaluate the sensitivity and specificity of this test by comparing these results with those obtained from an invasive sampling of amniotic fluid. This is a prospective study to assess the technical and diagnostic performance of a new molecular method noninvasive prenatal diagnosis of platelet genotyping.

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