title: First Birth after Sperm Selection through Discontinuous Gradient Centrifugation and Artificial Insemination from a Chromosomal Translocation Carrier.
abstract: Introduction. Balanced chromosomal carriers, though usually healthy, are confronted with recurrent spontaneous abortions and malformations in the offspring. Those are related to the transmission of an abnormal, chromosomally unbalanced genotype. We evidenced that the proportion of unbalanced spermatozoa can be significantly decreased through a sperm preparation process called discontinuous gradient centrifugation (DGC). We therefore started offering intrauterine inseminations with this procedure to couples with a male translocation carriers. Case Presentation. We report the case of a 37-year-old man carrying a t(3;10)(q25;p13) reciprocal translocation. He and his partner had had trouble conceiving for ten years and had four spontaneous abortions. DGC in this patient decreased the proportion of unbalanced spermatozoa from 63.6% to 52.3%. They were therefore offered intrauterine insemination with DGC, which eventually led to the birth of a healthy female child carrying the paternal translocation. Conclusion. We showed that translocation carriers could be offered intrauterine inseminations with DGC. Before this, the only two options were natural conception with prenatal diagnosis and termination of chromosomally unbalanced fetuses or preimplantation genetic diagnosis, which is a much heavier and costly procedure. We are currently offering this option through a multicentric program in France, and this is the first birth originating from it.
authors.affiliation: Medical Genetics and Embryology Department, AP-HP, Trousseau Hospital, 28 avenue du Docteur Arnold Netter, 75012 Paris, France.
authors.forename: Alexandre
authors.initials: A
authors.lastname: Rouen
authors.affiliation: Medical Genetics and Embryology Department, AP-HP, Trousseau Hospital, 28 avenue du Docteur Arnold Netter, 75012 Paris, France.
authors.forename: Capucine
authors.initials: C
authors.lastname: Hyon
authors.affiliation: Reproductive Medicine Department, Bluets Hospital, 4 rue Lasson, 75012 Paris, France.
authors.forename: Richard
authors.initials: R
authors.lastname: Balet
authors.affiliation: Medical Genetics and Embryology Department, AP-HP, Trousseau Hospital, 28 avenue du Docteur Arnold Netter, 75012 Paris, France.
authors.forename: Nicole
authors.initials: N
authors.lastname: Joyé
authors.affiliation: Drouot Laboratory, 21 rue Drouot, 75009 Paris, France.
authors.forename: Nino Guy
authors.initials: NG
authors.lastname: Cassuto
authors.affiliation: Medical Genetics and Embryology Department, AP-HP, Trousseau Hospital, 28 avenue du Docteur Arnold Netter, 75012 Paris, France.
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Siffroi