OBJECTIVE: Objective of our study was optimization of noninvasive fetal sex detection from maternal plasma in pregnant women. STUDY DESIGN: Molecular DNA quantitative analyses in gonosomal loci. SETTING: The study was performed at Department of Medical Genetics and Fetal Medicine, University Hospital Olomouc. METHODS: Together 475 DNA samples isolated from maternal plasma in different weeks of pregnancy ranging from 4th w.g. to 37th w.g. Y chromosomal sequences in AMELY and TSPY were tested by refined quantitative fluorescent PCR using capillary electrophoresis. RESULTS: The method is able to distinguish 1% of Y chromosomal sequences of artificial mixtures. Investigation and assessment in cell free fetal DNA samples achieved 4.05% of false positivity and 7.15% of false negativity in Y sequence detection. CONCLUSION: Established method allows detecting fetal sex with high sensitivity and specificity. The method is possible to use also for quantitative purposes.

Ustav lékarské genetiky a fetální medicíny Fakultnńemocnice Olomouc