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Hum. Reprod. Advance Access published online on January 29, 2004
Human Reproduction, doi:10.1093/humrep/deh117
© 2004 by European Society of Human Reproduction and Embryology
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Received October 10, 2003
Accepted November 17, 2003

Article

Circulating cell-free fetal DNA in maternal serum appears to originate from cyto- and syncytio-trophoblastic cells. Case report

E. Flori 1, B. Doray 1, E. Gautier 2, M. Kohler 3, P. Ernault 2, J. Flori 3, and J.M. Costa 2*

1 Laboratoire de Cytogénétique, Hôpital de Hautepierre, Strasbourg, France
2 Laboratoire de Biologie Moléculaire M.Dassault, Centre de Diagnostic Prénatal, Hôpital Américain de Paris, Neuilly-sur-Seine, France
3 Service de Gynécologie-Obstétrique, CMCO-SIHCUS, Schiltigheim, France

* To whom correspondence should be addressed. E-mail: jean-marc.costa{at}ahparis.org.


  Abstract

Circulating cell-free fetal DNA in maternal serum offers an early and non-invasive method for prenatal diagnosis, but the origin of this DNA is still unknown. We report the absence of the SRY gene in maternal serum of a pregnant woman despite male genitalia at ultrasound. The karyotype was 45,X after direct trophoblast analysis and 45,X/46,Xidic(Yp) after culture and in all fetal tissues studied. Due to the absence of the SRY sequence in maternal blood and in the cytotrophoblast, we presume that free fetal DNA in this case originates from trophoblastic cells. As the case presented here is exceptional, it only has a minor impact on the accuracy of fetal sex determination by maternal serum analysis, but highlights the importance of and the necessity for the complementary ultrasonographic control.

Key words: Key words: fetal DNA/maternal serum/trophoblastic cells/case report


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