LETTER TO JMG

Detection of cell free placental DNA in maternal plasma: direct evidence from three cases of confined placental mosaicism

H Masuzaki^1,*, K Miura^1,*, K-i Yoshiura^2,3, S Yoshimura¹, N Niikawa^2,3, T Ishimaru¹

¹ Department of Obstetrics and Gynecology, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan
² Department of Human Genetics, Graduate School of Biomedical Sciences, Nagasaki University, Nagasaki, Japan
³ CREST, Japan Science and Technology Agency (JST), Kawaguchi, Japan

Correspondence to:
Correspondence to:
K Miura, MD, PhD
Department of Obstetrics and Gynecology, Graduate School of Biomedical Sciences, Nagasaki University, 1-7-1 Sakamoto, Nagasaki 852-8501, Japan; kiyonori@net.nagasaki-u.ac.jp

Received 21 October 2003

Accepted 15 December 2003

Abbreviations: fetal DNA, cell free fetal DNA

The first 150 words of the full text of this article appear below.

Fetal cells are consistently found in the maternal circulation, and polymerase chain reaction based studies have led to the identification of cell free fetal DNA (fetal DNA) in maternal blood. Approximately 1.2 nucleated fetal cells/ml of whole blood from women carrying a male fetus were detectable,¹ and relative enrichment of fetal DNA was detected in the maternal plasma and serum.² The amount of fetal DNA in the maternal blood increases with progression of pregnancy, and 3.4–6.2% of the total maternal plasma DNA during pregnancy was of fetal origin.³ Therefore, cell free fetal DNA in pregnant women’s plasma is useful for non-invasive prenatal diagnosis, especially for detection of fetal sex,^3,4 RhD blood type,^5–7 and gene mutations of paternal origin.^8–10 Previous studies indicated that pregnant women with pre-eclampsia,¹¹ placenta previa¹² and fetal chromosome abnormalities¹³ tend to have elevated levels of fetal DNA in their plasma. Since functional or structural abnormalities of the . . . [Full text of this article]

CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

This article has been cited by other articles:

• Papageorgiou, E. A., Fiegler, H., Rakyan, V., Beck, S., Hulten, M., Lamnissou, K., Carter, N. P., Patsalis, P. C. (2009). Sites of Differential DNA Methylation between Placenta and Peripheral Blood: Molecular Markers for Noninvasive Prenatal Diagnosis of Aneuploidies. Am. J. Pathol. 174: 1609-1618 [Abstract] [Full Text]  
• Miura, K., Yoshiura, K.-i., Miura, S., Yamasaki, K., Nakayama, D., Ishimaru, T., Wagstaff, J., Niikawa, N., Masuzaki, H. (2006). Cell-free DNA is more sensitive than cell-free mRNA as a marker for evaluation of fetal-maternal hemorrhage.. Clin. Chem. 52: 2121-2123 [Full Text]  
• Chim, S. S. C., Tong, Y. K., Chiu, R. W. K., Lau, T. K., Leung, T. N., Chan, L. Y. S., Oudejans, C. B. M., Ding, C., Lo, Y. M. D. (2005). Detection of the placental epigenetic signature of the maspin gene in maternal plasma. Proc. Natl. Acad. Sci. USA 102: 14753-14758 [Abstract] [Full Text]  
• Hyodo, M., Samura, O., Miharu, N., Ohama, K., Kudo, Y. (2005). Molar DNA in Maternal Serum in a Case of 46,XY Heterozygous Complete Hydatidiform Mole Coexisting with a 46,XX Twin Live Fetus. Clin. Chem. 51: 676-677 [Full Text]  
• Masuzaki, H., Miura, K., Miura, S., Yoshiura, K.-i., Mapendano, C. K., Nakayama, D., Yoshimura, S., Niikawa, N., Ishimaru, T. (2004). Labor Increases Maternal DNA Contamination in Cord Blood. Clin. Chem. 50: 1709-1711 [Full Text]