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Human Reproduction, Vol. 17, No. 8, 2183-2186, August 2002
© 2002 European Society of Human Reproduction and Embryology

Clinical applications of fetal sex determination in maternal blood in a preimplantation genetic diagnosis centre

Gérard Tachdjian1,5, Nelly Frydman1, Franciois Audibert2, Pierre Ray3, Violaine Kerbrat2, Pauline Ernault4, René Frydman2 and Jean-Marc Costa4

1 Service de Biologie et Génétique de la Reproduction, Hôpital Antoine Béclère, 92140 Clamart, 2 Service de Gynécologie Obstétrique, Hôpital Antoine Béclère, 92140 Clamart, 3 Département de Génétique, Hôpital Necker-Enfants Malades, 75015 Paris and 4 Centre de Diagnostic Prénatal, American Hospital of Paris, 92200 Neuilly, France

BACKGROUND: Couples with a risk of transmitting X-linked diseases who are included in a preimplantation genetic diagnosis (PGD) programme need early and rapid fetal sex determination in two situations. The first situation is for the control of embryo sexing after PGD and the second situation is for those couples having a spontaneous pregnancy before the start of their PGD cycle. Among invasive techniques, chorionic villus sampling is the earliest procedure for fetal sex determination and molecular analysis of X-linked genetic disorders during the first trimester but it is associated with a risk of fetal loss. Non-invasive procedures such as ultrasound examination allow reliable fetal sex determination only during the second trimester. Reliable fetal sex determination can now be realised by using SRY gene amplification in maternal blood. METHODS AND RESULTS: We report the use of fetal sex determination from maternal serum as a diagnostic tool for the control of embryo sexing (two cases) and to manage spontaneous pregnancies in couples included in a PGD programme for X-linked diseases (five cases). Fetal sex determination using SRY gene amplification in maternal serum were in complete concordance with fetal sex observed by cytogenetic analysis or ultrasound examination and at birth. This novel strategy allowed the PGD results to be controlled precociously and avoided the performance of invasive procedures in four cases of female fetus. CONCLUSIONS: This rapid fetal sex determination during the first trimester provides advantages to both clinicians and patients in a PGD centre.

Key words: fetal/maternal serum/preimplantation genetic diagnosis/sex/SRY

5 To whom correspondence should be addressed at: Service de Biologie et Génétique de la Reproduction, Hôpital Antoine Béclère, 157, rue de la Porte de Trivaux, 92140 Clamart, France. E-mail: gerard.tachdjian{at}abc.ap-hop-paris.fr


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