Prenatal microarray comparative genomic hybridization: Experience from the two first years of activity at the Lyon university-hospital.

OBJECTIVES: This study aims to describe how microarray comparative genomic hybridization (aCGH) has shifted to become a prenatal diagnosis tool at the Lyon university-hospital. MATERIALS AND METHODS: This retrospective study included all patients who were referred in the 3 pluridisciplinary centers for prenatal diagnosis of the Lyon university-hospital and who received a prenatal aCGH between June 2013 and June 2015. aCGH was systematically performed in parallel with a karyotype, using the PréCytoNEM array design. RESULTS: A total of 260 microarrays were performed for the following indications: 249 abnormal ultrasounds (95.8%), 7 characterizations of chromosomal rearrangements (2.7%), and 4 twins with no abnormal ultrasounds (1.5%). With a resolution of 1 mega base, we found 235 normal results (90.4%), 23 abnormal results (8.8%) and 2 non-returns (0.8%). For the chromosomal rearrangements visible on the karyotype, aCGH identified all of the 12 unbalanced rearrangements and did not identify the 2 balanced rearrangements. Among the fetuses with normal karyotypes, 11 showed abnormal microarray results, corresponding to unbalanced cryptic chromosomal rearrangements (4.2%). CONCLUSION: Transferring aCGH to a prenatal diagnosis at the Lyon university-hospital has increased the detection rate of chromosomal abnormalities by 4.2% compared to the single karyotype.

Laparoscopically assisted vaginal management of deep endometriosis infiltrating the rectovaginal septum.

BACKGROUND: Two aims: 1) To assess the results of laparoscopically assisted vaginal management of deep endometriosis infiltrating the rectovaginal septum (RVS); 2) to pinpoint the differences between this procedure and that used for deep endometriotic lesions located on the uterosacral ligaments (USL). METHODS: Descriptive retrospective study. Twenty-nine consecutive patients operated for deep endometriosis infiltrating the RVS were included in this series. RESULTS: One patient only (3.5%) presented a major complication of the recto-vaginal fistula type. After a one step reoperation under anesthesia, the post operative history was uncomplicated and no sequelae are to be deplored. With respect to dysmenorrhea (DM), deep dyspareunia (DP) and chronic pelvic pain (CPP), there was an improvement in respectively 91.7% (22 patients), 100% (24 patients) and 92.9% (13 patients) of cases. For each of these 3 symptoms the median score according to the visual analog scale was significantly lower after the operation (for DM: 7.6+/-2.0 versus 1.7+/-2.6; for DP 7.5+/-1.9 versus 0.5+/-1.1; for CPP 5.9+/-2.8 versus 1.4+/-3.2) (p<0.0001). CONCLUSIONS: These results demonstrate that provided the surgeon is highly skilled in laparoscopy, operative laparoscopy is efficient for the treatment of patients presenting painful symptoms related to deep endometriotic infiltrating the RVS. From the technical point of view the rectum must be freed, leaving the deep endometriotic nodule attached to the posterior wall of the vagina. Resection of the whole lesion requires the posterior wall of the vagina to be resected, whereas ureterolysis is often unnecessary. So for lesions located on the RVS the vagina is opened systematically, unlike the situation when resecting deep endometriotic lesions infiltrating the USL. Deep pelvic endometriosis is not synonymous with endometriosis of the RVS. Lesions truly infiltrating the RVS represent only a small proportion of all deep endometriosis lesions.