[Noninvasive fetal sex detection from maternal plasma in pregnant women].
OBJECTIVE
Objective of our study was optimization of noninvasive fetal sex detection from maternal plasma in pregnant women.


METHODS
Molecular DNA quantitative analyses in gonosomal loci.


METHODS
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.


CONCLUSIONS
Established method allows detecting fetal sex with high sensitivity and specificity. The method is possible to use also for quantitative purposes.
Vodicka
R
R
Ustav lékarské genetiky a fetální medicíny, Fakultnńemocnice Olomouc.
Vrtĕl
R
R
Schneiderová
E
E
Vrbická
D
D
Procházka
M
M
Dhaifalah
I
I
Santavá
A
A
Santavý
J
J
D041322:Chromosomes, Human, Y / Q000235:genetics*; D004247:DNA / Q000097:blood; D019075:Electrophoresis, Capillary; D005260:Female; D006801:Humans; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D017422:Sequence Analysis, DNA; D012732:Sex Determination Analysis / Q000379:methods*
D004247:DNA