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This paper describes the first pre-implantation genetic diagnosis (PGD) with in-vitro fertilization (IFV) in patients with achondroplasia and also discusses the "ethical and obstetrical" considerations which should be taken into account.
Although the study was made with a small amount of couples (only 3), an important aspect mentioned in this paper is that the authors found difficulties in ovarian stimulation and oocyte retrieval from the women with achondroplasia who participated in the study, resulting in no pregnancies using this method. One of these difficulties has to do with the position of the ovaries in women with achondroplasia, since they are located very high in the pelvic region.
Moutou, C. (2003). Preimplantation genetic diagnosis for achondroplasia: genetics and gynaecological limits and difficulties. Human Reproduction, 18(3), 509-514. doi:10.1093/humrep/deg123


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"BACKGROUND: We report the ®rst attempts at preimplantation genetic diagnosis (PGD) and IVF and their accompanying dif®culties 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 dificulties 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."
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