Counselling and management of women with genetic predisposition to gynaecological cancers.

OBJECTIVE: To review the literature with reference to counselling and management of women with genetic predisposition to gynaecological cancers. METHODS: Histochemical analysis, ultrasound, blood investigations, genetic testing, screening and risk-reducing surgery (RRS) are important tools for the management of gynaecological cancers and mortality reduction. Counselling can assist in timely management of gynaecological cancers. Systematic reviews, review articles, observational studies and clinical trials on PubMed, published in the English language, were included in this review. RESULTS: The management of women with genetic predisposition to gynaecological cancers through screening tests and RRS has led to a significant decrease in the risk of malignancy through RRS in cases with BRCA1 and BRCA2 gene mutations. RRS and screening have also been found to reduce the mortality rate and increase the survival rate in women with BRCA1 and BRCA2 gene mutations. The efficacy of endometrial cancer surveillance in women with Lynch syndrome is still unproven. RRS has not been reported to be effective in women with Cowden syndrome. The risk of ovarian malignancies in individuals with germline mutations remains minimal in the general population in comparison with genetic mutations. CONCLUSION: Genetic testing and RRS should be implemented in addition to genetic counselling for proper management and mortality reduction of women predisposed to gynaecological cancers.

Perivascular epithelioid cell tumour and mesonephric adenocarcinoma of the uterine cervix: an unknown co-existence.

A 67-year-old woman with post-menopausal bleeding and a suspicious endocervical mass was referred to gynaecology outpatients' for diagnosis and management. Cervical punch biopsies taken showed a benign cervical perivascular epithelioid cell tumour (PEComa), with MRI imaging and PET-CT scan indicating a 3-4 cm endocervical tumour with malignant features. The patient underwent radical hysterectomy with lymph node dissection and the surgical specimen histopathology demonstrated a residual benign PEComa and a stage IIB mesonephric adenocarcinoma (MNA) of the cervix. There is no disease recurrence 12 months after surgery. Cervical PEComas are extremely rare tumours of mesenchymal origin deriving from the perivascular epithelioid cells with only 14 cases described so far. Cervical MNAs are rare tumours originating from the remnants of the mesonephric duct of Wolff with only 40 cases reported. Our case adds to the existing literature and highlights the challenges with regard to preoperative diagnosis, treatment and prognosis.

Surgical intervention versus expectant management for endometrial polyps in subfertile women.

BACKGROUND: Endometrial polyps, which are benign growths of the endometrium, may be a factor in female subfertility. Possible mechanisms include physical interference with gamete transport, alteration of the endometrial milieu and unresponsiveness to the cyclical global endometrial changes. As such polyps remain mostly asymptomatic, their diagnosis is often incidental during routine investigations prior to embarking on assisted reproductive treatment. Transvaginal sonography, hysterosalpingography and saline infusion sonography are the diagnostic tools most commonly employed. However, hysteroscopy remains the gold standard for diagnosis, as well as for treatment. Due to the possible effect of endometrial polyps on fertility, their removal prior to any subfertility treatment is widely practiced. OBJECTIVES: To determine the effectiveness and safety of removal of endometrial polyps in subfertile women. SEARCH METHODS: Electronic databases were searched, including the Cochrane Menstrual Disorders and Subfertility Group Specialised Register, the Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE, EMBASE, PsycINFO, CINAHL and trial registers. The reference lists of identified articles were checked. The last search was performed on 30 July 2014. SELECTION CRITERIA: Only randomised controlled trials, reporting pregnancy or live birth rates and complication rates as primary or secondary outcomes, in which polyps were removed surgically prior to treatment of subfertility were eligible for inclusion. The diagnosis of endometrial polyps was required to be made by transvaginal ultrasound, hysterosalpingography, saline infusion, sono-hysterography or hysteroscopy. Any surgical technique of polyp removal was acceptable, with no intervention in the control groups. DATA COLLECTION AND ANALYSIS: Two review authors independently screened the titles, abstracts and full articles to assess their suitability for inclusion in this review. Quality assessment was attempted independently by two authors with discrepancies being settled by consensus or consultation with a third review author.No data extraction was performed due to the absence of useable data in the one eligible study. If there had been data to include, two review authors would have independently extracted the data from the studies using a data extraction form designed and pilot tested by the authors. Any disagreements would have been resolved by discussion or by a third review author. MAIN RESULTS: Only one randomised controlled trial of endometrial polypectomy was identified for inclusion. However, a single set of data could not be extracted from this study due to internal inconsistencies of the results reported. Attempts to contact the authors to resolve the issue were unsuccessful, by phone, post and e-mail. AUTHORS' CONCLUSIONS: Removal of endometrial polyps in subfertile women is commonly being performed in many countries with an aim to improve the reproductive outcome. We did not identify any analysable randomised trials which would allow us to reach any sound scientific conclusions on the efficacy of endometrial polypectomy in subfertile women. Well designed, methodologically sound, randomised controlled trials are urgently needed.

Comparison of tissue effects quantified histologically between PlasmaJet coagulator and Helica thermal coagulator.

INTRODUCTION: The PlasmaJet (PJ) coagulator uses neutral pure argon plasma to achieve coagulation. Helica thermal coagulator (HTC) achieves coagulation with helium gas. HTC is currently used in the treatment of mild to moderate endometriosis. OBJECTIVE: The objective of this study was to compare the tissue damage caused by PJ to the HTC in the uterus, ovary and fallopian tube. Our hypothesis was that PJ is a safe technology to use and the tissue damage caused is comparable to HTC. METHODS: Fifteen subjects undergoing hysterectomy with or without salpingo-oophorectomy were prospectively recruited for in vivo assessment of the two instruments. Both instruments were used on a small area of uterus, ovary and fallopian tube following the ligation of uterine artery pedicle. PJ was used at a power setting of 20 % for duration of 5 s at a clinically acceptable distance of 0.5 to 1 cm from the tissue surface. HTC was used at a widely accepted low power setting in the treatment of endometriosis for a similar duration and distance. Tissue damage was evaluated histologically. ANOVA was used to compare the mean differences. RESULTS: Data were normally distributed. Five subjects had a subtotal hysterectomy and 10 had hysterectomy with salpingo-oophorectomy. A total of 15 uteri, 10 ovaries and 10 fallopian tubes were histologically analysed for the tissue effect of PJ and HTC. There was no significant difference in the mean ± SD depth of tissue damage seen between PJ and HTC in the uterus (0.63 ± 0.19 vs. 0.68 ± 0.18; P = 0.481), ovary (0.61 ± 0.14 vs. 0.67 ± 0.15; P = 0.420) and fallopian tube (0.63 ± 0.18 vs. 0.60 ± 0.13; P = 0.688). A significantly lesser lateral spread of tissue damage (width) was seen with PJ than HTC in all three tissue types (uterus: 4.66 ± 0.91 vs. 7.67 ± 1.21, P < 0.001; ovary: 4.05 ± 0.61 vs. 5.90 ± 0.95, P < 0.001; fallopian tube: 4.50 ± 0.77 vs. 6.00 ± 1.28, P = 0.034). CONCLUSION: The depth of tissue damage caused by PJ at 20 % power is comparable to that with HTC on gynaecological tissues. The lateral spread (width of tissue damage) is however lesser with PJ than with HTC.

Do ovarian reserve tests predict miscarriage in women undergoing assisted reproduction treatment?

OBJECTIVE: To evaluate the role of ovarian reserve tests for the prediction of miscarriage among pregnancies resulting from assisted reproduction treatment. STUDY DESIGN: Cohort study in a large IVF centre. Three hundred and fourteen women aged <43 years with basal FSH <12 IU/L who conceived following their first cycle of IVF/ICSI were included. Sixty-seven participants experienced miscarriage while the remaining 247 had ongoing pregnancies. Intervention included transvaginal scan and venepuncture on day 3 of the menstrual cycle immediately prior to treatment. Ovarian reserve parameters assessed were antral follicle count (AFC), FSH, basal oestradiol and oestradiol response. The main outcome measure was miscarriage rate (pregnancy loss at <12 weeks). RESULTS: While the baseline clinical characteristics including age and duration of subfertility were comparable, BMI was significantly higher in women who experienced miscarriage compared to those having ongoing pregnancies. Among the ovarian reserve markers studied, only the AFC was significantly different between the miscarriage and pregnant groups. Logistic regression analysis revealed that only these two markers (BMI and AFC) were the significant predictors of clinical miscarriage. However, the discriminative ability of both BMI and AFC for the prediction of miscarriage was low as indicated by AUCs of 0.617 and 0.588 respectively on ROC curve analysis. CONCLUSION: While AFC and BMI are significantly predictive of first trimester miscarriage, the ability of these markers individually or in combination to discriminate women who experience miscarriage from those who continue the pregnancy beyond 12 weeks of gestation is poor.

Response to controlled ovarian stimulation and oocyte quality in women with myotonic dystrophy type I.

PURPOSE: In women the relationship between myotonic dystrophy type I and fertility remains controversial. The objective of this study was to evaluate the ovarian reserve, ovarian response to stimulation and oocyte quality in these patients. MATERIALS AND METHODS: We compared 15 myotonic dystrophy type I patients with 39 age matched controls with isolated male factor infertility necessitating ICSI. RESULTS: All parameters of ovarian reserve (day 3 FSH and E2, antral follicle count and delta E2) were significantly better in the controls. Despite having significantly lower doses of gonadotrophin, the control group attained a higher number of retrieved oocyte-cumulus complexes (p < 0.04). Analysis of cytoplasmic and extracytoplasmic dysmorphism did not reveal any difference between the two groups. Fertilisation rate and top grade embryos on day 3 were similar in both groups. CONCLUSION: The present study suggests that though women with myotonic dystrophy type I have a reduced ovarian reserve and respond poorly to controlled ovarian stimulation, there is no impact on oocyte and embryo quality. Hence suggesting that successful ART is feasible with appropriate selection in women with mild myotonic dystrophy.

Comparison of oocyte quality and intracytoplasmic sperm injection outcome in women with isolated polycystic ovaries or polycystic ovarian syndrome.

OBJECTIVE: To compare the oocyte quality and intracytoplasmic sperm injection performance in women with isolated polycystic ovaries or polycystic ovarian syndrome. DESIGN: Retrospective study. SETTING: Fertility unit. POPULATION: Three study groups were identified: women with PCO-only morphology (50 cycles), PCOS (51 cycles) and age matched control group (104 cycles) with isolated male factor infertility necessitating ICSI. METHOD: Controlled ovarian hyperstimulation and ICSI. MAIN OUTCOME MEASURES: Response to gonadotropin stimulation, oocyte and embryo quality, clinical pregnancy rate and pregnancy outcome. RESULTS: Despite a significantly lower total gonadotropin dose, a significantly higher serum E2 level was attained in both the PCOS and the PCO-only groups compared to the control group. Although significantly more oocytes were retrieved in the PCOS and PCO-only groups, the number of 2-pronuclear embryos was similar to controls. No significant differences were noted in the maturity of the oocytes, oocyte dysmorphism, embryo quality, implantation and pregnancy rates among the three groups. However the clinical miscarriage rate was significantly lower in women with PCO-only morphology group (15.4 versus 31%, P < 0.05) than in the PCOS group. CONCLUSION: Women with PCO-only appearance have shown to have similar characteristics to women with PCOS in terms of ovarian response to hMG stimulation, oocyte and embryo quality and pregnancy rates. However miscarriage rates were significantly lower in the PCO-only group than the PCOS group. Our findings suggest that factors unrelated to oocyte and embryo morphology present in PCOS patients may be instrumental in adverse reproductive outcomes in these women.

Prevalence of pathology in women attending colposcopy for postcoital bleeding with negative cytology.

OBJECTIVE: To determine the frequency of cervical pathology and the incidence of cervical neoplasia in women presenting with PCB at the colposcopy clinic with negative cytology. DESIGN: A retrospective study. SETTING: A district general hospital. POPULATION: Eighty-seven women with postcoital bleeding and negative cytology were seen in the colposcopy unit during 1 January 2003 to 31 December 2005. METHODS: Women were identified from computer records and details were extracted from the case notes. MAIN OUTCOME MEASURE: Histopathological diagnosis. RESULTS: Six women (6.9%) had cervical intraepithelial neoplasia. There were no cases of invasive cancer. Thus in our study 6.9% women with postcoital bleeding had abnormal histology even though they had normal smears. Other identifiable causes were cervical polyp (12.5%), ectopy (33.6%) and Chlamydia (2.3%). No pathology was found in 50% of women. CONCLUSION: Women with postcoital bleeding even with normal smears appear to be at much greater risk of cervical neoplasia than the general population. Unfortunately there is no general consensus for management of these patients. Hence further research is needed to standardise the management of women with PCB. Patients should be reassured that in vast majority of cases no serious pathology is detected.