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

Overview

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.


Sources

1. Al-Mufti, R., Hambley, H., Farzaneh, F., et al. Investigation of maternal blood enriched for fetal cells: Role in screening and diagnosis of fetal trisomies. Am J Med Genet, 1999, 85, p. 66–75.

2. Al-Mufti, R., Howard, C., Overton, T., et al. Detection of fetal messenger ribonucleic acid in maternal blood to determine fetal RhD status as a strategy for noninvasive prenatal diagnosis. Am J Obstet Gynecol, 1998, 179, 1, p. 210-214.

3. Bianchi, DW., Flint, AF., Pizzimenti, MF., et al. Isolation of fetal DNA from nucleated erythrocytes in maternal blood. Proc Natl Acad Sci USA, 1990, 87, p. 3279–3283.

4. Chiu, RW., Lui, WB., Cheung, MC., et al. Time profile of appearance and disappearance of circulating placenta-derived mRNA in maternal plasma. Clin Chem, 2006, 52, 2, p. 313–316.

5. Costa, JM., Benachi, A., Olivi, M., et al. Fetal expressed gene analysis in maternal blood: a new tool for noninvasive study of the fetus. Clin Chem, 2003, 49, p. 981–983.

6. Farina, A., Caramelli, E., Concu, M., et al. Testing normality of fetal DNA concentration in maternal plasma at 10-12 completed weeks’ gestation: a preliminary approach to a new marker for genetic screening. Prenat Diagn, 2002, 22, 2, p. 148–152.

7. Ganshirt-Ahlert, D., Burschyk, M., Garritsen, HSP., et al. Magnetic cell sorting and the transferrin receptor as potential means of prenatal diagnosis from maternal blood. Am J Obstet Gynecol, 1992, 166, p. 1350–1355.

8. Hamada, H., Arinami, T., Kubo, T., et al. Fetal nucleated cells in maternal peripheral blood: frequency and relationship to gestational age. Hum Genet, 1993, 91, p. 427–432.

9. Honda, H., Miharu, N., Ohashi, Y., et al. Fetal gender determination in early pregnancy through qualitative and quantitative analysis of fetal DNA in maternal serum. Hum Genet, 2002, 110, p. 75–79.

10. Lo, YMD., Corbetta, N., Chamberlain, PF., et al. Presence of fetal DNA in maternal plasma and serum. Lancet, 1997, 350, p. 485–487.

11. Lo, YMD., Tein, MS., Lau, TK., et al. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet, 1998, 62, p. 768–765.

12. Pandya, PP., Kuhn, P., Brizot, M., et al. Rapid detection of chromosome aneuploides in fetal blood and chorionic villi by fluorescence in situ hybridisation (FISH). Br J Obstet Gynaecol, 1994, 101, p. 493–497.

13. Price, JO., Elias, S., Wachtel, S., et al. Prenatal diagnosis with fetal cells isolated from maternal blood by multiparameter flow cytometry. Am J Obstet Gynecol, 1991, 165, p. 1731–1737.

14. Sekizawa, A., Kondo, T., Iwasaki, M., et al. Accuracy of fetal gender determination by analysis of DNA in maternal plasma. Clin Chem, 2001, 10, p. 1856-1858.

15. Sekizawa, A., Samura, O., Zhen, DK., et al. Apoptosis in fetal nucleated erythrocytes circulating in maternal blood. Prenat Diagn, 2000, 20, 11, p. 886-889.

16. Wachtel, S., Elias, S., Price, J., et al. Fetal cells in the maternal circulation: isolation by multiparameter flow cytometry and confirmation by polymerase chain reaction. Hum Reprod, 1991, 6, p. 1466–1469.

Labels
Paediatric gynaecology Gynaecology and obstetrics Reproduction medicine
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