Human Reproduction, Vol. 15, No. 7, 1613-1618,
July 2000
© 2000 European Society of Human Reproduction and Embryology
Histological and genetic analysis and risk assessment for chromosomal aberration after ICSI for patients presenting with CBAVD
1 Service de Biologie de la Reproduction SIHCUS-CMCO, 19 rue Louis Pasteur BP120, 67303 Schiltigheim, 2 Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, 1 rue Laurent Fries, BP 163, 67404 Illkirch Cedex, C.U. de Strasbourg, and 3 Service de Chirurgie Urologique HUS, Hôpital Civil, 1 place de l'Hôpital, BP 426, F-67091 Strasbourg Cedex, France
Intracytoplasmic sperm injection (ICSI) has opened a new field in the treatment of male infertility, leading to a debate concerning its genetic safety. In this study we present an analysis of 11 patients presenting congenital bilateral absence of the vas deferens (CBAVD). In all 11 cases, genetic counselling, histological analysis of testicular biopsies, cystic fibrosis transmembrane conductance regulator (CFTR) mutation screenings of both partners and spermatozoa three-colour fluorescent in-situ hybridization (FISH) analysis were performed. A total of 31 CFTR mutations were screened and mutations were found in eight out of 11 cases, with 
F508 being the most common mutation found. Histological analyses showed that seven out of 11 patients had normal tubule/membrane/interstitium (TMI) and Johnsen scores, while the remaining four patients had mild impairment of testicular parenchyma. The average aneuploidy rate was 6.8 ± 3.9% compared with two control subjects with 4.4 and 5.4% aneuploidy rates respectively, using FISH analysis. After ICSI, the fertilization and pregnancy rates were 66.2 and 22.7% respectively. Thus, in our case of CBAVD, the risk of chromosomal aberration following ICSI, in the absence of a CFTR mutation in the male patient and/or in his partner, was not higher than in normal fertile men. Furthermore, the pregnancy success rate following ICSI of these CBAVD patients was comparable to the general ICSI population, even when histological analysis showed limited spermatogenesis.
Key words: congenital absence of the vas deferens/fluorescent in-situ hybridization/histological analysis/ICSI/testicular sperm extraction
4 To whom correspondence should be addressed at: Service de Biologie de la Reproduction SIHCUS-CMCO, 19 rue Louis Pasteur BP120, 67303 Schiltigheim, France.E-mail: viville{at}igbmc.u-strasbg.fr
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  D. Hubert, C. Patrat, J. Guibert, N. Thiounn, T. Bienvenu, G. Viot, P. Jouannet, and S. Epelboin Results of assisted reproductive technique in men with cystic fibrosis Hum. Reprod., May 1, 2006; 21(5): 1232 - 1236. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
P. Platteau, C. Staessen, A. Michiels, H. Tournaye, A. Van Steirteghem, I. Liebaers, and P. Devroey Comparison of the aneuploidy frequency in embryos derived from testicular sperm extraction in obstructive and non-obstructive azoospermic men Hum. Reprod., July 1, 2004; 19(7): 1570 - 1574. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L. Rodrigo, C. Rubio, E. Mateu, C. Simon, J. Remohi, A. Pellicer, and M. Gil-Salom Analysis of chromosomal abnormalities in testicular and epididymal spermatozoa from azoospermic ICSI patients by fluorescence in-situ hybridization Hum. Reprod., January 1, 2004; 19(1): 118 - 123. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
I. Mateizel, G. Verheyen, E. Van Assche, H. Tournaye, I. Liebaers, and A. Van Steirteghem FISH analysis of chromosome X, Y and 18 abnormalities in testicular sperm from azoospermic patients Hum. Reprod., September 1, 2002; 17(9): 2249 - 2257. [Abstract] [Full Text] [PDF]
|
|