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Human Reproduction, Vol. 18, No. 8, 1733-1736, August 2003
© 2003 European Society of Human Reproduction and Embryology

Kinetics of SRY gene appearance in maternal serum: detection by real time PCR in early pregnancy after assisted reproductive technique

J. Guibert1, A. Benachi2, A.-G. Grebille2, P. Ernault3, J.-R. Zorn1 and J.-M. Costa3,4

1 Unité d’Assistance Médicale à la Procréation, Baudelocque, Hôpital Cochin, 75014 Paris, 2 Maternité, Hôpital Necker-Enfants Malades, AP-HP-Université Paris V, 75015 Paris and 3 Centre de Diagnostic Prénatal, American Hospital of Paris,63 bd Victor Hugo, 92200 Neuilly, France

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

BACKGROUND: Fetal DNA circulating in maternal serum offers a possibility for non-invasive prenatal diagnosis but its kinetics during very early pregnancy is still unclear. In order to clarify this point, the studies on the kinetics of fetal DNA appearance in maternal serum were conducted on patients undergoing assisted reproduction. METHODS: Using a quantitative real time PCR assay, the presence of SRY gene sequences was evaluated in the serum of patients at the onset of pregnancy. RESULTS: Twenty-seven patients were originally studied but first trimester abortion occurred in five cases. Among the 22 ongoing pregnancies, ten were found to bear at least one male fetus and all sera from these women gave positive results for SRY gene detection. The SRY gene was found to be detectable as soon as day 18 after embryo transfer in one case and it had been found in the other nine patients by day 37. CONCLUSIONS: Fetal DNA is found in maternal serum even before the fetal circulation is established, which is highly suggestive that it is released, at least in part, from the trophoblast. Detection of fetal DNA in maternal serum very early in pregnancy may have clinical implications such as with the management of pregnant women carrying a fetus at risk for congenital adrenal hyperplasia.

Key words: assisted reproduction/fetal DNA/maternal serum/pregnancy


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