Impact of Endometriosis on Pregnancy and Delivery – a Retrospective Cohort Study

Purpose: The aim of the study was to assess the impact of endometriosis on subsequent pregnancy and delivery.Methods: retrospective analysis by questionnaire / interview of cases (endometriosis laparoscopically removed / child wish) vs. controls (endometriosis laparoscopically excluded / child wish) from the University Hospital Muenster, Germany, treated between 2009 and 2016; analysis of pregnancy rate, mode of delivery and complications using Clavien-Dindo-classification, role of deep infiltrating endometriosis using ENZIAN classification; data analysis using t-test with p < 0.050% being considered significant.Results:Identification of 973 consecutive cases vs 789 consecutive controls; inclusion of 501 cases: (pregnancy rate 57.5%) and 219 controls (pregnancy rate 60.7%). Primary cesarean section: trend to more in controls (p=0.202). Secondary cesarean section: trend to more in cases (p=0.111). Miscarriage: more in controls (p=0.038). DIE with risks equal to other types of endometriosis. Adenomyosis and bladder endometriosis: increased risk of secondary cesarean section. Pregnancy: more bleeding (p=0.005), early uterine contractions (p=0.012), cervical insufficiency (p=0.042), slightly more pre-eclampsia (p=0.080), amniorrhexis (p=0.220). Delivery: more bleeding (p=0.007), vaginal tear (p=0.009), symphysis diastasis (p=0.022), less episiotomy (p=0.002), prolonged labour (p=0.011). Puerperium: more bleeding (p=0.022), infectious complications p=0.007). Complications more in cases (Clavien Dindo I (p=0.005) or II (p=0.010); controls slightly more III (p=0.055)). Cases vs published control groups from general population: more placenta praevia (p=0.042), placental abruption, miscarriage (p<0.001; relative risk 2.23 (1.84-2.70)), delivery by cesarean section (p<0.001).Conclusion: Complications during pregnancy, delivery and puerperium occur more frequently in cases. The risk of miscarriage and delivery by cesarean section is increased. Endometriosis patients should receive counselling with regard to pregnancy and delivery. They should have access to specialized centers of care. Recommendations regarding mode of delivery should not exclude vaginal delivery also in cases of deep infiltrating endometriosis

Hereditary diseases and child wish: exploring motives, considerations, and the (joint) decision-making process of genetically at-risk couples

Couples who are at risk of transmitting a genetic disease to their offspring may face difficult challenges regarding reproductive decision-making. Deciding if, and how, to purse their child wish can be a demanding process. This study aims to describe the reproductive joint decision-making process of genetically at-risk couples. A qualitative study was conducted with 16 couples (N=31) at risk of transmitting a genetic disease to their offspring and who received genetic counseling. Most couples were not aware of all available reproductive options in the Netherlands. A variety of motives was reported with almost all couples expressing a preference towards a reproductive option in which the child is genetically related to both parents. Only a few couples considered other options such as the use of donor gametes, adoption, and foster parenting. All couples indicated that they had multiple conversations to reach a mutually supported reproductive decision. Several carriers reported feelings of guilt and in some couples, the woman appeared to have a greater impact in the decision-making process as she should carry a pregnancy and should undergo medical treatments. This study provides insight in the extensive decision-making process of genetically at-risk couples and the role of both partners in this process. These findings can guide the development of genetic counseling (e.g., increase awareness of available reproductive options) and decision support for these couples.

Reproduction Function in Male Patients With Bardet Biedl Syndrome

Purpose Bardet-Biedl syndrome (BBS) is a ciliopathy with a wide spectrum of symptoms due to primary cilia dysfunction, including genitourinary developmental anomalies as well as impaired reproduction, particularly in males. Primary cilia are known to be required at the following steps of reproduction function: (i) genitourinary organogenesis, (ii) in fetal firing of hypothalamo-pituitary axe, (iii) sperm flagellum structure, and (iv) first zygotic mitosis conducted by proximal sperm centriole. BBS phenotype is not fully understood. Methods This study explored all steps of reproduction in 11 French male patients with identified BBS mutations. Results BBS patients frequently presented with genitourinary malformations, such as cryptorchidism (5/11), short scrotum (5/8), and micropenis (5/8), but unexpectedly, with normal testis size (7/8). Ultrasonography highlighted epididymal cysts or agenesis of one seminal vesicle in some cases. Sexual hormones levels were normal in all patients except one. Sperm numeration was normal in 8 out of the 10 obtained samples. Five to 45% of sperm presented a progressive motility. Electron microscopy analysis of spermatozoa did not reveal any homogeneous abnormality. Moreover, a psychological approach pointed to a decreased self-confidence linked to blindness and obesity explaining why so few BBS patients express a child wish. Conclusions Primary cilia dysfunction in BBS impacts the embryology of the male genital tract, especially epididymis, penis, and scrotum through an insufficient fetal androgen production. However, in adults, sperm structure does not seem to be impacted. These results should be confirmed in a greater BBS patient cohort, focusing on fertility.

Cultural adaptation and psychometric evaluation of the Swedish version of the Reproductive Concerns After Cancer (RCAC) scale

Background Reproductive concerns are common among young cancer survivors and include worries related to different aspects of fertility and parenthood. The Reproductive Concerns After Cancer (RCAC) scale is an 18-item scale with six dimensions, developed to capture a variety of such concerns. The aim of the present study was to culturally adapt the RCAC scale into Swedish and evaluate its psychometric properties among young women with cancer experience. Methods The RCAC was forward-translated from English into Swedish and assessed for cultural adaptation based on a two-panel approach followed by cognitive interviews with representatives of the target group. For the psychometric evaluation, a Swedish cohort of 181 young adult breast cancer survivors completed a survey including the RCAC scale approximately 1.5 years post-diagnosis. Investigation of the psychometric properties included analyses of construct validity (confirmatory factor analysis and convergent validity), data quality (score distribution, floor and ceiling effects), reliability (Cronbach’s α) and known-groups validity based on current child wish. Results The breast cancer survivors had a mean age of 36.5 (SD 4.1) years and a third of them expressed a current wish for (additional) children. The confirmatory factor analysis yielded a satisfactory fit (RMSEA 0.08, SRMR 0.09, CFI 0.92). Convergent validity was demonstrated by a negative correlation with moderate effect size (-0.361) between the RCAC total score and the emotional functional scale of EORTC QLQ-C30. Reliability was in the acceptable range (α= 0.78-0.92) for four of the dimensions, nearly acceptable for Personal health (α, 0.68) and poor for Becoming pregnant (α= 0.54). Known-groups validity was indicated by significantly higher RCAC mean score differences (MD), reflecting more concerns, among women with a certain (MD 4.56 [95% CI 3.13 to 5.99]) or uncertain (MD 3.41 [95% CI 1.68 to 5.14]) child wish, compared to those with no wish for (additional) children. Conclusion The Swedish RCAC scale demonstrated satisfactory reproducibility of the original RCAC scale with acceptable convergent and known-groups validity, but satisfactory reliability was not achieved for all dimensions. The Swedish RCAC scale exhibits adequate psychometric properties and could be useful for assessment of reproductive concerns in young adult female cancer survivors in Sweden.

Counseling young women with early breast cancer on fertility preservation

Purpose Women with early-stage breast cancer may still have a future child wish, while chemotherapy may impair fertility. To pursue on fertility preservation shortly after breast cancer diagnosis is complex. This review holds a critical reflection on all topics that need to be counseled to give them the opportunity to make a well-informed decision before starting any oncological treatment. Methods A comprehensive literature review was performed on papers published in English language on breast cancer in young women, risk of chemotherapy-induced infertility, fertility preservation techniques, impact of possible mutation carriership, and future pregnancy outcome. Results Below 40 years of age, the risk of permanent chemotherapy-induced ovarian function failure is approximately 20%, where taxanes do not significantly add to this risk. Overall, 23% of reported women who performed fertility preservation by cryopreserving oocytes or embryos returned for embryo transfer. Of these, 40% gave live birth. Both fertility preservation in women diagnosed with breast cancer and pregnancy after treatment seem safe with respect to breast cancer survival. Women who have a genetic predisposition for breast cancer like BRCA gene mutation should also be informed about the possibility of pre-implantation genetic diagnosis. Conclusions Women with an early stage of breast cancer and a possible future child wish should be referred to an expertise center in breast cancer, fertility preservation, and genetics in this complex decision-making process, shortly after diagnosis.