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

Abstract

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.

• Authors: Céline Moutou, Catherine Rongieres, Karima Bettahar-Lebugle, Nathalie Gardes, Christophe Philippe, Stéphane Viville
• Journal: Human reproduction (Oxford, England) (Hum Reprod) Vol. 18 Issue 3 Pg. 509-14 (Mar 2003) ISSN: 0268-1161 [Print] England
• PMID: 12615816 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Fluorescent Dyes

Topics

• Achondroplasia (diagnosis)
• Adult
• Blastomeres
• Cell Line, Transformed
• Feasibility Studies
• Female
• Fertilization in Vitro
• Fluorescent Dyes
• Humans
• Polymerase Chain Reaction
• Pregnancy
• Preimplantation Diagnosis
• Treatment Outcome