A Case Report of Familial Mayer-Rokitansky-Küster-Hauser Syndrome as Part of the Phenotypic Spectrum of the 2q37 Deletion.

We performed a genetic investigation into the case of an inherited Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Our patients were an adolescent and her mother, both with MRKH syndrome. The delivery of a biological offspring was achieved via a gestational carrier. Karyotype and exome sequencing were used to complete a three-generation genetic analysis of the family. Both the mother and her daughter harbored a deletion of 4 Mb at the locus of 2q37, a syndrome rarely described in association with MRKH. No pathogenic single-nucleotide variant relevant to the phenotype was found. The deletion was not inherited from either parent of the mother. In addition, some physical findings suggesting 2q37 deletion syndrome were found in our patients. We conclude that when combined with the use of a gestational carrier or uterine transplantation, the identification of a genetic cause for MRKH may enable the application of preimplantation genetic testing on embryos, thus potentially averting the transmission of the genetic anomaly to subsequent generations.

Clinical and microbiological features of Bartholin's gland abscess in pregnant and non-pregnant women.

OBJECTIVE: The data regarding microbiological and clinical characteristics of Bartholin gland abscesses during pregnancy is limited. Given the hormonal and physiological changes during pregnancy we aimed to examine whether a difference exists in the clinical and microbiological features of Bartholin's gland abscess during pregnancy and the puerperium as compared with nonpregnant patients. In addition, we aim to evaluate whether a Bartholin's gland abscess during pregnancy is associated with adverse pregnancy outcomes. STUDY DESIGN: A retrospective cohort study was conducted, including all women with Bartholin's gland abscess who were treated surgically between the years 2009-2016 in the Soroka University Medical Center. Various demographic, clinical and microbiological characteristics were retrieved and a comparison was made between patients with a Bartholin's gland abscess during pregnancy and the puerperium (study group) as compared with nonpregnant patients (controls). In addition, obstetrical characteristics of patients in the study group were retrieved. RESULTS: Of the 363 women who were treated surgically, 38 (10.5%) were in the study group. Women in the study group were significantly younger (26.8 versus 32.8 p < .001). No differences were found between the groups with regard to the clinical presentation (affected side, fever, leukocytosis and need for antimicrobial treatment) or the selected mode of drainage. In addition, no difference was found in the percentage of positive culture results, nor in the distribution of the pathogens between the groups, in both groups the most common pathogen was Escherichia coli. Yet, among the study group, recurrence of the abscess was more common (13.5 versus 2.15% p = -.067) as evident by significantly higher recurrent referrals to the emergency department and recurrent hospitalizations (28.9 versus 14.8%, p < .05, and 26.3 versus 8.0% p < .001, respectively). Of note, fever after the procedures, pain, discharge and bleeding did not differ significantly between groups. No cases of premature rupture of membranes or chorioamnionitis were noted following treatment. CONCLUSIONS: In our cohort, no differences were found between the study groups in the clinical presentation and microbiological features. A significantly higher recurrence rate was noted in the study group. Among pregnant patients no adverse perinatal outcomes were noted.

Effectiveness and safety of late midtrimester cervical cerclage.

Objectives: To evaluate the safety and effectiveness of late cervical cerclage performed beyond 17 weeks of gestation. The outcomes of interest were effectiveness of late cerclage in prolongation of pregnancy and evaluation of pregnancy outcome including maternal and fetal complications. Study design: A total of 30 patients underwent late cervical cerclage during the study period. Of them, two were twin pregnancies. A late cerclage was performed after the diagnosis of cervical shortening or dilatation in 20 patients. We performed a retrospective case series review. One case was lost to follow up (delivery in another medical center). Medical information was retrieved from all cases of patients who underwent a late cervical cerclage between the years 2010 and 2016 at the Soroka University Medical Center, a tertiary medical center. Continuous variables were expressed as mean ± standard deviation. Categorical variables were expressed as proportions. Results: The average gestational age at birth was 35 ± 5.1 weeks of gestation. The mean interval between cerclage and delivery in the study population was 17 ± 5.62 weeks. Nine cases (32.1%) resulted in preterm deliveries, three of them below 34 weeks of gestation (one twin pregnancy and two pregnancies diagnosed with cervical dilation prior to cerclage). Among all the preterm deliveries, there were four cases of preterm prelabor rupture of membranes (13.3%). Of the 28 deliveries, 24 women (85.7%) had a vaginal delivery, while four women (14.3%) underwent a cesarean section. No cases of cervical tear were described. The cerclage was sent to bacteriology after removal, showing positive cultures for Candida species in nine cases (31%). Conclusions: In our study population, late cervical cerclage was found to be a safe procedure resulting in almost 90% of successful vaginal deliveries without maternal or fetal complications. This procedure might be effective in the prolongation of pregnancy in women with cervical dynamics in the late second trimester.

[TRIAL OF LABOR AFTER CESAREAN IN TWIN GESTATIONS: DOES IT INCREASE MATERNAL OR NEONATAL COMPLICATIONS?]

OBJECTIVES: To investigate the rate, success and pregnancy outcome following a trial of labor after cesarean (TOLAC) in twin gestations. Study design: A retrospective study including all twin pregnancies with a single prior cesarean delivery between the years 2006 to 2011 was performed. Women with medical indications for cesarean delivery (CD) were excluded. Maternal and neonatal outcomes were compared between women who delivered by CD to those who underwent TOLAC. Stratified analysis using a multiple logistic regression model was performed to control for confounders. RESULTS: During the years 2006-2011, 110 women met the inclusion criteria. Of these, 20% (n=22) underwent a TOLAC. The success rate of vaginal birth after cesarean was 77.2% (n=17). No cases of uterine rupture or dehiscence were noted. No significant difference was documented in neonatal outcome (including pH and Apgar scores) between the TOLAC and the CD group. Fertility treatment was noted as a risk factor for repeated CD (35.2 vs. 4.5%, OR=8.6, 95% CI 1.21-61.3, P=0.005). Using a multivariable analysis, with repeated CD as the outcome variable, controlling for confounders such as maternal age, and gestational age, fertility treatment was an independent risk factor for repeated CD (adjusted OR=5.2, 95% CI 0.01-0.70; P=0.02). CONCLUSIONS: A TOLAC in twin gestation seems to be a safe option for the mother and newborn. Fertility treatment is an independent risk factor for repeated CD in twins.