Noninvasive Fetal Sex Detection from Maternal Plasma in Pregnant Women

Authors: R. Vodička;  R. Vrtěl;  E. Schneiderová;  D. Vrbická;  M. Procházka;  I. Dhaifalah;  A. Šantavá;  J. Šantavý
Authors‘ workplace: Ústav lékařské genetiky a fetální medicíny, Fakultní nemocnice Olomouc, vedoucí pracoviště prof. MUDr. J. Šantavý, Ph. D.
Published in: Čes. Gynek.2008, 73, č. 3 s. 150-153


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.

The study was performed at Department of Medical Genetics and Fetal Medicine, University Hospital Olomouc.

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.

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.

Established method allows detecting fetal sex with high sensitivity and specificity. The method is possible to use also for quantitative purposes.

Key words:
cell free fetal DNA, maternal plasma, fetal sex detection, QF PCR, Y chromosomal sequences.


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Paediatric gynaecology Gynaecology and obstetrics Reproduction medicine
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