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Molecular Human Reproduction, Vol. 8, No. 7, 688-694, July 2002
© 2002 European Society of Human Reproduction and Embryology

Reproductive genetics

Birth of healthy female twins after preimplantation genetic diagnosis of cystic fibrosis combined with gender determination

Pierre F. Ray1,4, Nelly Frydman3, Tania Attié1, Samir Hamamah3, Violaine Kerbrat2, Gérard Tachdjian3, Serge Romana1, Michel Vekemans1, René Frydman2 and Arnold Munnich1

1 Département de Génétique, U393, IRNEM, Hôpital Necker Enfants Malades, 75743 Paris Cedex 15, 2 Service de Gynécologie-Obstetrique and 3 Service d'histologie Embryo-Cytogénétique de la Reproduction, Hôpital Antoine Béclère, 92141 Clamart, France

Two healthy sisters with a familial history of mental retardation were referred to our centre for preimplantation genetic diagnosis (PGD). Their two brothers showed severe mental retardation. The molecular basis for their disorder could not be identified, but one of the sisters and the mother presented a highly skewed pattern of X-inactivation reinforcing the likelihood of an X-linked mode of inheritance. Both sisters requested PGD to avoid the abortion of potentially affected male fetuses. PGD for sex by fluorescent in-situ hybridization was carried out for the first sister and resulted in the birth of a female child. The second sister and her partner, whose niece had cystic fibrosis (CF), were tested for CF mutations, and were both found to be {Delta}F508 heterozygous. We developed an efficient single cell PCR protocol for the simultaneous amplification of the CF ({Delta}{Delta}F508) locus as well as the X-linked amelogenin gene and its highly homologous pseudogene on the Y chromosome. Two PGD cycles were carried out to screen against male and {Delta}F508 homozygous deleted embryos. In each case several embryos could be selected for transfer and the second cycle resulted in a twin pregnancy followed by the birth of two healthy female infants.

cystic fibrosis/gender determination/mental retardation/polymerase chain reaction/preimplantation genetic diagnosis

4 To whom correspondence should be addressed. E-mail: ray{at}necker.fr


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