In contrast to most hormonal biomarkers of the follicular status, anti-Müllerian hormone (AMH) is exclusively produced by the granulosa cells of a wide range of follicles (primary to the early antral stages), presumably FSH-independently and with little susceptibility to disorders of antral follicle growth during the luteal-follicular transition. This paper summarizes the authors' clinical research on the role of AMH as a marker of ovarian functioning. It shows that the relationship between antral follicle counts and serum AMH concentrations is stronger than that observed with FSH, inhibin B and oestradiol on day 3, and that intercycle reproducibility of AMH measurements is better than the latter parameters. In addition, peripheral AMH concentrations decline during ovarian stimulation, thus confirming that maturing follicles loose progressively their ability to produce AMH. Indeed, follicular fluid (FF) AMH concentrations in small antral follicles are 3-fold as high as AMH in pre-ovulatory follicles. Further, human chorionic gonadotrophin-driven luteinization additionally curtails follicular AMH production. Finally, AMH production measured in FF from individual follicles is increased in women having normal follicular counts and responsiveness to ovarian stimulation. Together, these data reinforce the soundness of AMH measurements as a quantitative and possibly qualitative marker of granulosa cell activity and health.

We report an improvement in the PGD test for fragile X syndrome (FXS). Recently, multiple displacement amplification (MDA) has been reported to yield large amounts of DNA from single cells. Taking into account this technique, we developed a new PGD test for FXS, enabling combined analysis of linked polymorphic markers with the study of the non-expanded CGG repeat. Single cell amplification efficiency was first assessed on single lymphocytes. Amplification rate of the different markers ranged from 85 to 95% with an allele drop-out (ADO) rate comprised between 7 and 34%. Using this test, eight PGD cycles were carried out for six couples, and 37 embryos were analysed after preliminary MDA. Amplification rate was increased by this technique from 41 to 66% so that embryos with no results were rarer (14 versus 45% without MDA). Reliability of the test was considerably improved by combining direct with indirect genetic analysis. Furthermore, in cases of fully expanded alleles too large to be amplified by PCR, this test gives an internal amplification control. Embryonic transfers were carried out in all but one PGD cycles. One biochemical and one clinical pregnancy resulted, and a healthy child was born. This single diagnosis procedure could be suitable to most patients carrying FXS.

BACKGROUND: Myotonic dystrophy (MD) is characterized by myotonia, multisystemic lesions and hypogonadism.In women, the relationship between MD and infertility remains controversial. This study investigated the ovarian status and response to controlled ovarian stimulation (COS) in MD women entering our preimplantation genetic diagnosis programme. METHODS: We elected to compare MD patients with X-linked disorders (XLD) carriers, given that XLD have not been shown to affect ovarian status. On the one hand, we analysed all the cycles performed and, on the other hand, we conducted a subanalysis based on only first cycles. RESULTS: MD and XLD groups were similar with regard to women's ages, day 3 parameters, number of oocytes retrieved, embryos obtained and prevalence of top quality embryos. The day of HCG was significantly delayed and the prevalence of poor quality embryos was higher in the MD group. The subanalysis on first cycles only also showed significantly fewer mature follicles on the day of HCG in MD population. Implantation and pregnancy rates were similar in both groups; however, no pregnancy occurred at the first cycle in MD (0 out of 4), whereas 77% of pregnancies (10/13) occurred at the first attempt in XLD carriers. CONCLUSIONS: These results indicate that the responsiveness to COS was moderately hindered in MD women as compared to controls. Reassuring data about implantation and pregnancy rates support the feasibility of PGD in selected mildly affected MD women.

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The present study indicates that AH does not improve IVF-embryo transfer outcome in women aged > or =37 years.