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Human Reproduction, Vol. 18, No. 3, 509-514, March 2003
© 2003 European Society of Human Reproduction and Embryology

Preimplantation genetic diagnosis for achondroplasia: genetics and gynaecological limits and difficulties

Céline Moutou1, Catherine Rongieres2, Karima Bettahar-Lebugle2, Nathalie Gardes1, Christophe Philippe4 and Stéphane Viville1,3,5

1 Service de Biologie de la Reproduction and 2 Service de Gynécologie Obstétrique, SIHCUS-CMCO, CHU de Strasbourg, 19, rue Louis Pasteur, BP120, 67303 Schiltigheim cedex, 3 Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, BP163 1, rue Laurent Fries, F-67400 Illkirch Cedex, CU de Strasbourg and 4 Laboratoire de Génétique, CHU Brabois, allée du Morvan, 54511 Vandoeuvre les Nancy cedex, France

5 To whom correspondence should be addressed at: Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, BP163 1, rue Laurent Fries, F-67400 Illkirch Cedex, CU de Strasbourg, France. e-mail: viville{at}igbmc.u-strasbg.fr

BACKGROUND: We report the first attempts at preimplantation genetic diagnosis (PGD) and IVF and their accompanying difficulties for achondroplasia (ACH) patients. METHODS: A PGD test was developed using fluorescent single cell PCR on lymphoblasts from patients and controls and from blastomeres from surplus IVF embryos. A specific digestion control based on the use of two fluorochromes was elaborated. Ovarian stimulation and oocyte retrieval were carried out using conventional protocols. RESULTS: We performed 88 single cell tests for which amplification was obtained in 86 (97.7%) single lymphoblasts. Allele drop out (ADO) was observed in two out of 53 (3.7%) heterozygous lymphoblasts. If we combine the results from the blastomere testing from surplus embryos with those from PGD cycles and re-analysis after PGD, we obtained a PCR signal in 84% of cases of which 91% were correctly diagnosed at the G380 locus. A total of six cycles were performed resulting in three embryo transfers. We observed difficulties in ovarian stimulation and oocyte retrieval with affected female patients. No pregnancy was obtained. CONCLUSION: A PGD test for ACH is now available at our centre but our initial practice raises questions on the feasibility of such a test, specially with affected female patients.

Key words: achondroplasia/IVF/ovarian stimulation and puncture/preimplantation genetic diagnosis(PGD)


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