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1
Department of Obstetrics and Gynecology, Hiroshima University School of Medicine, 1-2-3, Kasumi, Minami-ku, Hiroshima 734-8551, Japan.
a Author for correspondence. Fax 81-82-257-5264;
honda{at}mcai.med.hiroshima-u.ac.jp
Background: Fetal DNA has been found in maternal plasma and serum. Diagnosis of fetal gender using maternal plasma and serum has been attempted in an effort to develop a new noninvasive method of prenatal diagnosis.
Methods: Peripheral blood samples were obtained from 61 pregnant women at 10–17 weeks of gestation before amniocentesis. DNA was extracted from 800 µL of each plasma or serum sample. To detect the Y-chromosome-specific sequences DYS14 and DYZ3 in the maternal plasma and serum, 40 cycles of PCR were carried out for each DNA extract. The PCR products were analyzed by 2.5% agarose gel electrophoresis and ethidium bromide staining, and the results were compared with the results of the cytogenetic analyses of amniocentesis.
Results: Cytogenetic analysis of amniocentesis revealed that 31 pregnant women had a male fetus and the remaining 30 pregnant women had a female fetus. Both DYS14 and DYZ3 were detected in 27 of the 31 plasma samples obtained from pregnant women carrying a male fetus and in all of 31 serum samples obtained from the same women. Neither DYS14 nor DYZ3 was detected in either the plasma or serum samples obtained from any of the 30 pregnant women carrying a female fetus.
Conclusion: PCR analysis of maternal serum can be used to diagnose fetal gender.
The following articles in journals at HighWire Press have cited this article:
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  C. F. Wright and H. Burton The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis Hum. Reprod. Update, January 1, 2009; 15(1): 139 - 151. [Abstract] [Full Text] [PDF]
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 I. Stanghellini, R. Bertorelli, L. Capone, V. Mazza, C. Neri, A. Percesepe, and A. Forabosco Quantitation of fetal DNA in maternal serum during the first trimester of pregnancy by the use of a DAZ repetitive probe Mol. Hum. Reprod., September 1, 2006; 12(9): 587 - 591. [Abstract] [Full Text] [PDF]
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 Y.M. D. Lo Recent Advances in Fetal Nucleic Acids in Maternal Plasma J. Histochem. Cytochem., March 1, 2005; 53(3): 293 - 296. [Abstract] [Full Text] [PDF]
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 R. J.P. Rijnders, G. C.M.L. Christiaens, A. A. Soussan, C. E. van der Schoot, P. Invernizzi, G. Simoni, and M. Podda Cell-Free Fetal DNA Is Not Present in Plasma of Nonpregnant Mothers * Authors of the article cited above respond: Clin. Chem., March 1, 2004; 50(3): 679 - 681. [Full Text] [PDF]
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O. Samura, N. Miharu, M. Hyodo, H. Honda, Y. Ohashi, N. Honda, T. Hara, and K. Ohama Cell-free Fetal DNA in Maternal Circulation after Amniocentesis Clin. Chem., July 1, 2003; 49(7): 1193 - 1195. [Full Text] [PDF]
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 G. Tachdjian, N. Frydman, F. Audibert, P. Ray, V. Kerbrat, P. Ernault, R. Frydman, and J.-M. Costa Clinical applications of fetal sex determination in maternal blood in a preimplantation genetic diagnosis centre Hum. Reprod., August 1, 2002; 17(8): 2183 - 2186. [Abstract] [Full Text] [PDF]
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D. W. Swinkels, J. B. de Kok, J. C.M. Hendriks, E. Wiegerinck, P. L.M. Zusterzeel, and E. A.P. Steegers Hemolysis, Elevated Liver Enzymes, and Low Platelet Count (HELLP) Syndrome as a Complication of Preeclampsia in Pregnant Women Increases the Amount of Cell-free Fetal and Maternal DNA in Maternal Plasma and Serum Clin. Chem., April 1, 2002; 48(4): 650 - 653. [Full Text] [PDF]
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J.-M. Costa and P. Ernault Automated Assay for Fetal DNA Analysis in Maternal Serum Clin. Chem., April 1, 2002; 48(4): 679 - 680. [Full Text] [PDF]
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Y. Y.N. Lui, K.-W. Chik, R. W.K. Chiu, C.-Y. Ho, C. W.K. Lam, and Y.M. D. Lo Predominant Hematopoietic Origin of Cell-free DNA in Plasma and Serum after Sex-mismatched Bone Marrow Transplantation Clin. Chem., March 1, 2002; 48(3): 421 - 427. [Abstract] [Full Text] [PDF]
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Y. Ohashi, N. Miharu, H. Honda, O. Samura, and K. Ohama Correlation of Fetal DNA and Human Chorionic Gonadotropin Concentrations in Second-Trimester Maternal Serum Clin. Chem., February 1, 2002; 48(2): 386 - 388. [Full Text] [PDF]
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 G. Vona, C. Beroud, A. Benachi, A. Quenette, J. P. Bonnefont, S. Romana, Y. Dumez, B. Lacour, and P. Paterlini-Brechot Enrichment, Immunomorphological, and Genetic Characterization of Fetal Cells Circulating in Maternal Blood Am. J. Pathol., January 1, 2002; 160(1): 51 - 58. [Abstract] [Full Text] [PDF]
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