FMR1 CGG repeat expansion mutation detection and linked haplotype analysis for reliable and accurate preimplantation genetic diagnosis of fragile X syndrome.

Fragile X mental retardation 1 (FMR1) full-mutation expansion causes fragile X syndrome. Trans-generational fragile X syndrome transmission can be avoided by preimplantation genetic diagnosis (PGD). We describe a robust PGD strategy that can be applied to virtually any couple at risk of transmitting fragile X syndrome.

Younger women with ovulation disorders and unexplained infertility predict a higher success rate in superovulation (SO) intrauterine insemination (IUI).

Introduction: Superovulation-intrauterine insemination (SO-IUI) is the most common assisted reproductive technique (ART) in the world, with good evidence of efficacy and cost-effectiveness. However, parameters affecting its success have not been consistently reported. So in this study, we aim at determining the parameters influencing the success rate of SO-IUI.

Preimplantation genetic diagnosis of chromosome translocations by analysis of polymorphic short tandem repeats.

Introduction: We aimed to develop and implement a short tandem repeat (STR) polymerase chain reaction alternative to fluorescence in situ hybridisation (FISH) for the preimplantation genetic diagnosis (PGD) of chromosomal translocations.

Methods: Selected informative STRs located on translocated arms of relevant chromosomes were used to discriminate between normal and unbalanced chromosome states in each embryo.

Results: PGD cycles were performed on five couples where one spouse carried a balanced translocation.

Simplified PGD of common determinants of haemoglobin Bart's hydrops fetalis syndrome using multiplex-microsatellite PCR.

The high incidence of double-gene deletions in α-thalassaemia increases the risk of having pregnancies with homozygous α(0)-thalassaemia, the cause of the lethal haemoglobin (Hb) Bart's hydrops fetalis syndrome. Preimplantation genetic diagnosis (PGD) has played an important role in preventing such cases. However, the current gap-PCR based PGD protocol for deletional α-thalassaemia requires specific primer design for each specific deletion.

Ovarian tissue cryopreservation: An update.

Ovarian tissue cryopreservation and transplantation have been considered as promising means of fertility preservation for women who have survived cancer, with livebirths being reported from this technique. Ovarian tissue cryopreservation can be offered to patients with different types of cancer. Among the cryoprotectants, glycerol appears to give the poorest results.