First-trimester euploid miscarriages analysed by array-CGH.

It is estimated that 10-15 % of all clinically recognised pregnancies results in a miscarriage, most of which occur during the first trimester. Large-scale chromosomal abnormalities have been found in up to 50 % of first-trimester spontaneous abortions and, for several decades, standard cytogenetic analysis has been used for their identification. Recent studies have proven that array comparative genomic hybridisation (array-CGH) is a useful tool for the detection of genome imbalances in miscarriages, showing a higher resolution, a significantly higher detection rate and overcoming problems of culture failures, maternal contamination and poor chromosome morphology. In this study, we investigated the possibility that submicroscopic chromosomal changes, not detectable by conventional cytogenetic analysis, exist in euploid miscarriages and could be causative for the spontaneous abortion. We analysed with array-CGH technology 40 foetal tissue samples derived by first-trimester miscarriages with a normal karyotype. A whole-genome microarray with a 100-Kb resolution was used for the analysis. Forty-five copy number variants (CNVs), ranging in size between 120 Kb and 4.3 Mb, were identified in 31 samples (24 gains and 21 losses). Ten samples (10/31, 32 %) have more than one CNV. Thirty-one CNVs (68 %) were defined as common CNVs and 14 were classified as unique. Six genes and five microRNAs contained within these CNVs will be discussed. This study shows that array-CGH is useful for detecting submicroscopic CNVs and identifying candidate genes which could account for euploid miscarriages.

A new technique for surgical treatment of stress urinary incontinence: the TVT-secur.

AIM: The aim of this pilot study was to evaluate the surgical feasibility of a new device for the treatment of stress urinary incontinence, named tension-free vaginal tape (TVT)-secur. Fifteen patients underwent the TVT-secur procedure. METHODS: The mean operation time was 13 minutes (range, 7-21). There was no intraoperative complication. Duration of surgery was shorter in the second half of cases than in the first eight procedures. RESULTS: The number of technical difficulties experienced by the surgeon was significantly higher in the first 8 procedures than in the following 7 cases; these difficulties included bleeding reducing the identification of anatomical structures, dislocation or removal of the mesh tape during the removal of the inserter, need to repeat the procedure. The cure rate, determined by urodynamic study, was 80% at 3 months follow-up. The cought test was negative in 86.7% of women at 6 months follow-up. CONCLUSION: The implantation of the TVT-secur is simple, safe, and minimally invasive with a short learning curve.

A false visualization of ureteral jet with Doppler sonography during transvaginal evaluation of ureterocele.

A case of ureterocele diagnosed by an experimental trial using transvaginal ultrasound is reported. Color Doppler sonography revealed a jet flowing from the ureterocele into bladder. The radionuclide renal scan revealed a right duplex system, a ureterocele of the upper moiety and its functional obstruction. If the upper moiety was obstructed, where was the ureteral jet from? We can suppose that the jet visualized was flowing from the ureteral meatus of the lower moiety, positioned behind the ureterocele, and not from the ureterocele itself. In the light of this case, a urinary obstruction could not be excluded only on the basis of Doppler sonographic findings. In conclusion, a diagnostic work-up using only transvaginal ultrasound is insufficient to adeguately analyse the anatomy and function of the urinary system, especially when there are anatomy malformations.

Ultrasound imaging of the female perineum: the effect of vaginal delivery on pelvic floor dynamics.

OBJECTIVE: To assess the use of perineal ultrasound in the evaluation of the influence of vaginal delivery on urethral mobility and on the contraction strength of the levator ani muscles. METHODS: This was a prospective observational study of 70 nulliparous women. Each woman underwent perineal ultrasound assessment at 36-38 weeks' gestation and at 1 week and 3 months following delivery. During each examination we assessed: the posterior urethrovesical angle at rest, urethral mobility during Valsalva maneuver and movement of the anorectal angle and levator sling angle during contraction of the levator ani. RESULTS: The urethrovesical angle and the urethral mobility increased significantly after delivery (P < 0.0001). The levator sling excursion decreased proportionally. The anorectal excursion had decreased significantly by the examination 3 months after birth. CONCLUSIONS: Perineal sonography provides objective assessment criteria for urethral mobility and for contraction strength of the levator ani muscles and detects changes in the anatomy and function of the pelvic floor after vaginal delivery.