Noninvasive Fetal Sex Detection from Maternal Plasma in Pregnant Women

Česká verzia

Authors: R. Vodička; R. Vrtěl; E. Schneiderová; D. Vrbická; M. Procházka; I. Dhaifalah; A. Šantavá; J. Šantavý
Authors place of work: Ústav lékařské genetiky a fetální medicíny, Fakultní nemocnice Olomouc, vedoucí pracoviště prof. MUDr. J. Šantavý, Ph. D.
Published in the journal: Ceska Gynekol 2008; 73(3): 150-153

Summary

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.

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

Zdroje

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