Taiwanese Journal of Obstetrics and Gynecology
Volume 44, Issue 2 , Pages 116-122, June 2005

Cell-Free Fetal DNA in Plasma of Pregnant Women: Clinical Potential and Origin

  • Akihiko Sekizawa

      Affiliations

    • Corresponding Author InformationCorrespondence to: Dr. Akihiko Sekizawa, Department of Obstetrics and Gynecology, Showa University School of Medicine, 1-5-8, Hatanodai, Shinagawa-ku, Tokyo, 142-8666, Japan
  • ,
  • Antonio Farina
  • ,
  • Takashi Okai

Department of Obstetrics and Gynecology, Showa University School of Medicine, Tokyo, Japan

Received 17 January 2005; received in revised form 26 January 2005; accepted 26 January 2005.

Summary

Circulating fetal DNA in maternal plasma can be used for both fetal genetic testing and evaluation of complications of pregnancy. As a prenatal genetic test, the greatest advantage of using circulating fetal DNA is the lack of risk. This approach has been applied to the diagnosis of fetal gender, fetal Rhesus D (RhD) blood type, and fetal single-gene disorders. However, it only allows examination of disorders where the gene of interest is present in the fetal genome but absent from maternal DNA. Since most fetal DNA probably originates from villous trophoblasts, concentrations can be used to evaluate damage to trophoblasts, particularly in pathologic complications of pregnancy such as pre-eclampsia, invasive placenta, hyperemesis gravidarum, and trisomy 21. Fetal DNA in the plasma of pregnant women thus offers a new source of data that can be used in various clinical settings.

Key Words:  fetal DNA , genetic testing , plasma

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PII: S1028-4559(09)60122-4

doi:10.1016/S1028-4559(09)60122-4

Taiwanese Journal of Obstetrics and Gynecology
Volume 44, Issue 2 , Pages 116-122, June 2005