Measurement and use of total plasma homocysteine

Article Abstract:

The importance of identifying the cause of hyperhomocysteinemia before treating it, based on possible harmful effects of inappropriate supplementation of involved cofactors and etiologies being complex, possibly genetic and environmental, is discussed. Accurate measurement of total plasma homocysteine (tHcy) depends on very careful sample collection, immediate separation/freezing of plasma, and using a specialized laboratory.

Statistical Data Included, Abnormalities, Measurement, Blood vessels, Homocysteine

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Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis

Article Abstract:

A real-time method for quantitative PCR assay of the concentration of fetal DNA in maternal serum and plasma has been developed. There are implications for noninvasive prenatal diagnosis. Fetal DNA has now been shown to be in high concentrations in maternal plasma and it can be detected in the seventh gestational week. Concentration increases as the pregnancy goes on.

United Kingdom, China, Hong Kong, Maternal-fetal exchange, Birth defects, Prenatal diagnosis

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Uniparental disomies in unselected populations

Article Abstract:

Uniparental disomy (UPD), determined through genomic screening, may account for many recessive disorders. UPD, or the presence of chromosomes of only one parent in an individual, does not cause an evident phenotype but has been linked to conditions such as cystic fibrosis, hemophilia, Duchenne muscular dystrophy and complete congenital achromatopsia.

Health aspects, Editorial, Genomes, Human chromosome abnormalities

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