No abstract

One of the main problems concerning IVF units is the need to decrease the occurrence of multiple pregnancies in their practice without affecting the overall success rate. Different embryological parameters concerning every step of the early embryo development are known to have some predictive value for implantation potential. In this prospective study, a pronuclear scoring system was used to classify zygotes into six patterns from 0 to 5. Cleaved, day 3 embryos developed from pattern 0 zygotes, which was described as the normal pattern, were transferred when available. For each zygote pattern, the subsequent embryological development was analysed. Pattern 0 zygotes led to significantly more 'good quality' embryos with higher implantation potential than embryos developing from the other zygote patterns (P < 0.01). Embryo transfers including at least one pattern 0 resulted in significantly more pregnancies than transfers without any pattern 0 zygotes (39.3 versus 19.7%, P < 0. 01). No relationship between clinical parameters (age of female partner, infertility cause) and zygote pattern distribution was demonstrated.

The aim of this study was to determine the feasibility and safety of hysteroscopic metroplasty in cases of diethylstilboestrol-exposed and hypoplastic malformed uterus. Twenty-four patients were referred for primary infertility (n = 9), secondary infertility (n = 1) or infecundity (n = 14). Fifteen had been exposed to diethylstilboestrol in utero. All patients had a hypoplastic uterus and/or uterine deformity as seen by hysterosalpingography and each served as their own control. All patients underwent hysteroscopic metroplasty. Outcome measures included postoperative hysterosalpingography and the ability to conceive and to carry pregnancy to live birth. Postoperative hysterosalpingograms revealed improvement in 23 cases; the final result was considered excellent in 15 cases and 11 pregnancies occurred. The abortion rate decreased from 88% in previous pregnancies to 12.5%, and the rate of term deliveries increased from 3% to 87.5%. Ten patients were delivered after 30 weeks' gestation of healthy infants and one delivered more prematurely. Six deliveries were normal and four required a Caesarean section. We conclude that hysteroscopic metroplasty gives good results. This technique can be used in women with diethylstilboestrol-exposed or hypoplastic malformed uterus, suffering from severe infertility, recurrent pregnancy loss or implantation failures in an in-vitro fertilization programme.

No abstract

No abstract

We have developed a new allele-specific amplification method for the preimplantation genetic diagnosis (PGD) of spinal muscular atrophy (SMA; Werdnig-Hoffmann disease) from a single cell. This method is based on the detection of the deletion of exon 7 of the telomeric copy of the survival motor neurone (SMN(t)) gene. An oligonucleotide was designed to be specific to the SMN(t) nucleotidic sequence with exonic mismatch G (for SMN(t))-->A (for SMN(c)) at its 3' end. This test produces reliable PCR products in 95% of single lymphoblasts (85/88) tested as well as in 16/16 blastomeres from normal controls. Specificity analysis showed that we were able to detect homozygous deletion of the SMN(t) gene in 99% of single lymphoblasts (103/104) from a SMA patient. No contamination was detected in 68 blanks tested. Multiple cell and DNA dilution analysis revealed that the test is accurate and specific up to 100 pg DNA and should thus also be suitable for PGD at the blastocyst stage. This rapid procedure requires a single round of fluorescent PCR and no restriction digestion, while previously described single cell methods include nested PCR followed by restriction enzyme digestion. Two PGD cycles for SMA using this procedure were performed in our centre.

No abstract

No abstract