Robert M. Watson

Kinetics of fetal cellular and cell‐free DNA in the maternal circulation during and after pregnancy: implications for noninvasive prenatal diagnosis

BACKGROUND: Fetal genetic material is detectable in the maternal circulation and has been used for noninvasive prenatal diagnosis. However, few data are available concerning its quantity and natural history during gestation.

Quantitation of residual WBCs in filtered blood components by high-throughput, real-time kinetic PCR

BACKGROUND: The effort to eliminate transfusion complications associated with WBCs has led to the widespread use of filters able to reduce WBC concentrations to ≤0.1 WBC per μL blood. This has necessitated sensitive QC methods to quantitate residual WBCs in filtered units. One fast, effective method is DNA amplification using real‐time kinetic PCR (kPCR).

PREVALENCE OF HFE MUTATIONS IN CALIFORNIA NEWBORNS

Advances in molecular diagnostics have led to an increased interest in expanding population-based screening to include genetic diseases that occur outside the newborn period. Hereditary hemochromatosis may be a candidate for large-scale screening in populations with a high prevalence of the common HFE mutations. To determine race-specific frequencies of the HFE mutations, C282Y and H63D, the authors applied an automated, high-throughput genotyping method to dried blood spot samples from a representative population of California newborns. In this sample of 3989 newborns, C282Y and H63D allele frequencies were highest in white (C282Y: 5.5 ± 0.5%; H63D: 13.4 ± 0.76%) and Hispanic (C282Y: 1.8 ± 0.29%; H63D: 11.9 ± 0.72%) newborns, and lowest in black (C282Y: 1.3 ± 0.25%; H63D: 3.0 ± 0.38%) and Asian (C282Y 0.5 ± 0.16%; H63D 2.9 ± 0.37%) newborns. The estimated prevalence of C282Y homozygotes in this multiracial population is 1.4/1000. As additional genetic and environmental risk factors for HHC are identified, neonatal screening may become an acceptable strategy to follow susceptible individuals and prevent clinical disease.