PubMed · 12393959
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Mark I Evans, Mark Paul Johnson. The Wayne State experience.. https://doi.org/10.1159/000065389
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OBJECTIVE: In a thesis examine infectious and inflammatory mechanisms involved in preterm birth and cerebral palsy. STUDY DESIGN: Four cross-sectional studies and a case control study. RESULTS: Microbial invasion of the amniotic cavity and inflammation in this population of Swedish women in preterm labor and preterm prelabor rupture of membranes was similar to that reported in data from populations with a higher incidence of preterm birth. Our data support an association between antenatal infection/inflammation and cerebral palsy. CONCLUSIONS: Infectious and inflammatory mechanisms are involved in preterm birth and cerebral palsy in a population with low incidence of preterm birth.
Metaphase karyotype analysis of fetal cells obtained by amniocentesis or chorionic villus sampling is the current standard for prenatal cytogenetic diagnosis, particularly for the detection of trisomy 21. We previously demonstrated that large quantities of cell-free fetal DNA (cffDNA) are easily extracted from amniotic fluid (AF). In this study, we explored potential clinical applications of AF cffDNA by testing its ability to hybridize to DNA microarrays for comparative genomic hybridization (CGH) analysis. cffDNA isolated from 11 male fetuses showed significantly increased hybridization signals on SRY and decreased signals on X-chromosome markers, compared with female reference DNA. cffDNA isolated from six female fetuses showed the reverse when compared with male reference DNA. cffDNA from three fetuses with trisomy 21 had increased hybridization signals on the majority of the chromosome 21 markers, and cffDNA from a fetus with monosomy X (Turner syndrome) had decreased hybridization signals on most X-chromosome markers, compared with euploid female reference DNA. These results indicate that cffDNA extracted from AF can be analyzed using CGH microarrays to correctly identify fetal sex and aneuploidy. This technology facilitates rapid screening of samples for whole-chromosome changes and may augment standard karyotyping techniques by providing additional molecular information.
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