First Birth after Sperm Selection through Discontinuous Gradient Centrifugation and Artificial Insemination from a Chromosomal Translocation Carrier

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 spermat...

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Main Authors: Alexandre Rouen, Capucine Hyon, Richard Balet, Nicole Joyé, Nino Guy Cassuto, Jean-Pierre Siffroi
Format: Article
Language:English
Published: Wiley 2014-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2014/906145
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author Alexandre Rouen
Capucine Hyon
Richard Balet
Nicole Joyé
Nino Guy Cassuto
Jean-Pierre Siffroi
author_facet Alexandre Rouen
Capucine Hyon
Richard Balet
Nicole Joyé
Nino Guy Cassuto
Jean-Pierre Siffroi
author_sort Alexandre Rouen
collection DOAJ
description 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.
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spelling doaj-art-27f11d9a56dd4020bd52b58dee3339802025-08-20T03:54:38ZengWileyCase Reports in Genetics2090-65442090-65522014-01-01201410.1155/2014/906145906145First Birth after Sperm Selection through Discontinuous Gradient Centrifugation and Artificial Insemination from a Chromosomal Translocation CarrierAlexandre Rouen0Capucine Hyon1Richard Balet2Nicole Joyé3Nino Guy Cassuto4Jean-Pierre Siffroi5Medical Genetics and Embryology Department, AP-HP, Trousseau Hospital, 28 avenue du Docteur Arnold Netter, 75012 Paris, FranceMedical Genetics and Embryology Department, AP-HP, Trousseau Hospital, 28 avenue du Docteur Arnold Netter, 75012 Paris, FranceReproductive Medicine Department, Bluets Hospital, 4 rue Lasson, 75012 Paris, FranceMedical Genetics and Embryology Department, AP-HP, Trousseau Hospital, 28 avenue du Docteur Arnold Netter, 75012 Paris, FranceDrouot Laboratory, 21 rue Drouot, 75009 Paris, FranceMedical Genetics and Embryology Department, AP-HP, Trousseau Hospital, 28 avenue du Docteur Arnold Netter, 75012 Paris, FranceIntroduction. 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.http://dx.doi.org/10.1155/2014/906145
spellingShingle Alexandre Rouen
Capucine Hyon
Richard Balet
Nicole Joyé
Nino Guy Cassuto
Jean-Pierre Siffroi
First Birth after Sperm Selection through Discontinuous Gradient Centrifugation and Artificial Insemination from a Chromosomal Translocation Carrier
Case Reports in Genetics
title First Birth after Sperm Selection through Discontinuous Gradient Centrifugation and Artificial Insemination from a Chromosomal Translocation Carrier
title_full First Birth after Sperm Selection through Discontinuous Gradient Centrifugation and Artificial Insemination from a Chromosomal Translocation Carrier
title_fullStr First Birth after Sperm Selection through Discontinuous Gradient Centrifugation and Artificial Insemination from a Chromosomal Translocation Carrier
title_full_unstemmed First Birth after Sperm Selection through Discontinuous Gradient Centrifugation and Artificial Insemination from a Chromosomal Translocation Carrier
title_short First Birth after Sperm Selection through Discontinuous Gradient Centrifugation and Artificial Insemination from a Chromosomal Translocation Carrier
title_sort first birth after sperm selection through discontinuous gradient centrifugation and artificial insemination from a chromosomal translocation carrier
url http://dx.doi.org/10.1155/2014/906145
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