Genetic Testing

The search for mutations is time consuming and expensive because of genetic heterogeneity and the fact that mutations in either gene tend to span the entire coding sequence and are usually family-specific. Direct sequencing, SSCP, heteroduplex analysis, Southern blotting and RT-PCR are the techniques more frequently utilized for mutation screening. Considering that any endoglin mutation will determine a reduction by half in the detection of its cell surface expression, Abdalla et al.[6] have developed a mutation detection strategy based on the flow cytometry quantification of surface endoglin on newborns' HUVECs and on adult patients' activated monocytes followed by quantitative multiplex polymerase chain reaction (QMPCR). As HHT-2 patients show no reduction of steady-state endoglin expression, this method eliminates the necessity of screening for both HHT genes and allows the detection of large deletions and duplications involving whole exons, which would not be identified by the aforementioned screening procedures. Once the mutation has been identified, screening of the ''at-risk'' members of the family is important to identify the carriers of the gene alteration in order to potentially prevent or timely treat more serious sequelae. With this regard, the report of intracranial hemorrhage in neonates with family history of HHT[10] suggests the usefulness of prenatal diagnosis in order to ensure appropriate medical care for the mutation carriers at childbirth.

Pregnancy And Childbirth

Pregnancy And Childbirth

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