Rapid thrombophilia genetic test facilitates improved prenatal care for mother and child

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dc.contributor.authorKotze M.J.
dc.contributor.authorLa Grange C.
dc.contributor.authorMansvelt E.P.G.
dc.contributor.authorKotze M.J.
dc.contributor.authorLa Grange C.
dc.contributor.authorMansvelt E.P.G.
dc.date.accessioned2011-05-15T16:17:59Z
dc.date.accessioned2011-05-15T16:17:59Z
dc.date.available2011-05-15T16:17:59Z
dc.date.available2011-05-15T16:17:59Z
dc.date.issued2005
dc.date.issued2005
dc.description.abstractPhysiological changes in coagulation factors during pregnancy are important to minimise blood loss during gestation and delivery, but may also lead to a 4-6 fold increased risk of venous thromboembolism during pregnancy and after delivery. Approximately 25% of maternal mortality can be ascribed to thromboembolism if untreated, while this figure is reduced to less than 1% when diagnosed on time. Clinical diagnosis is complicated by the fact that the symptoms associated with venous thrombosis are relatively common complaints of pregnant women. A rapid genetic test has been developed for simultaneous detection of the most common genetic risk factors associated with thrombophilia, the factor V 1691GA (Leiden) and prothrombin 20210GA mutations. Mutation 677CT in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene, which increases homocysteine levels by 15-25% when two copies of the T-allele is present, is also included as part of this "prenatal care genetic test". Hyperhomocysteinaemia has been associated with an increased risk of thrombosis and neural tube defects. The importance of multi-gene testing is emphasised by the low predictive value of any single inherited marker and the significant increase in the probability of thrombosis when more than one risk factor is identified.
dc.description.abstractPhysiological changes in coagulation factors during pregnancy are important to minimise blood loss during gestation and delivery, but may also lead to a 4-6 fold increased risk of venous thromboembolism during pregnancy and after delivery. Approximately 25% of maternal mortality can be ascribed to thromboembolism if untreated, while this figure is reduced to less than 1% when diagnosed on time. Clinical diagnosis is complicated by the fact that the symptoms associated with venous thrombosis are relatively common complaints of pregnant women. A rapid genetic test has been developed for simultaneous detection of the most common genetic risk factors associated with thrombophilia, the factor V 1691GA (Leiden) and prothrombin 20210GA mutations. Mutation 677CT in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene, which increases homocysteine levels by 15-25% when two copies of the T-allele is present, is also included as part of this "prenatal care genetic test". Hyperhomocysteinaemia has been associated with an increased risk of thrombosis and neural tube defects. The importance of multi-gene testing is emphasised by the low predictive value of any single inherited marker and the significant increase in the probability of thrombosis when more than one risk factor is identified.
dc.description.versionShort Survey
dc.description.versionShort Survey
dc.identifier.citationSouth African Family Practice
dc.identifier.citation47
dc.identifier.citation7
dc.identifier.citationSouth African Family Practice
dc.identifier.citation47
dc.identifier.citation7
dc.identifier.issn1726426X
dc.identifier.issn1726426X
dc.identifier.urihttp://hdl.handle.net/10019.1/14457
dc.identifier.urihttp://hdl.handle.net/10019.1/14457
dc.subjectblood clotting factor; blood clotting factor 5 Leiden; homocysteine; prothrombin; allele; bleeding; delivery; diagnostic value; disease association; female; gene mutation; genetic marker; human; hyperhomocysteinemia; maternal mortality; neural tube defect; pregnancy; pregnant woman; prenatal care; risk assessment; risk factor; short survey; symptomatology; thrombophilia; vein thrombosis; venous thromboembolism
dc.subjectblood clotting factor
dc.subjectblood clotting factor 5 Leiden
dc.subjecthomocysteine
dc.subjectprothrombin
dc.subjectallele
dc.subjectbleeding
dc.subjectdelivery
dc.subjectdiagnostic value
dc.subjectdisease association
dc.subjectfemale
dc.subjectgene mutation
dc.subjectgenetic marker
dc.subjecthuman
dc.subjecthyperhomocysteinemia
dc.subjectmaternal mortality
dc.subjectneural tube defect
dc.subjectpregnancy
dc.subjectpregnant woman
dc.subjectprenatal care
dc.subjectrisk assessment
dc.subjectrisk factor
dc.subjectshort survey
dc.subjectsymptomatology
dc.subjectthrombophilia
dc.subjectvein thrombosis
dc.subjectvenous thromboembolism
dc.titleRapid thrombophilia genetic test facilitates improved prenatal care for mother and child
dc.titleRapid thrombophilia genetic test facilitates improved prenatal care for mother and child
dc.typeShort Survey
dc.typeShort Survey
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