Naama Srebnik

BRCA mutation carriers do not have compromised ovarian reserve.

Objective The aim of this study is to evaluate the relation between carrying a BRCA1/2 mutation and fertility using the level of anti-müllerian hormone (AMH), which has been previously shown to be an accurate marker of ovarian reserve and fertility potential. Patients and Methods Forty-one healthy BRCA1/2 mutation carriers, aged 26 to 40 years, attending a multidisciplinary breast and ovarian cancer surveillance clinic, were tested for AMH levels using a 2-site ELISA. Levels were compared with those of our general population and with well-established normograms of the general population. Results The mean age of carriers was 33.2 years (26–39 years; SD, 3.99 years). The mean parity of carriers was 1.97 (0–7; SD, 1.49). All women carried at least 1 Ashkenazi Jewish founder mutation. The AMH levels for most carriers were in the reference range, 2.71 ± 0.59 ng/mL (approximately 50th percentile of normograms). These levels were similar to those in the control group, in which the AMH levels were 2.02 ± 0.12 ng/mL (P = 0.27). Conclusions The AMH levels of healthy BRCA1/2 mutation carriers are similar to those of noncarrier women matched for age; therefore, their ovarian reserve is comparable. This is the only study, to the best of our knowledge, that directly examines ovarian reserve in a relatively large group of carriers with an accurate marker. The results of this study may possibly give reassurance to female carriers concerning fertility potential.

BRCA mutation carriers show normal ovarian response in in vitro fertilization cycles

OBJECTIVE To evaluate the association between carriage of BRCA1/2 mutations and ovarian performance, as demonstrated by in vitro fertilization (IVF) outcomes. DESIGN Retrospective cohort study. SETTING Two tertiary IVF centers. PATIENT(S) BRCA mutation carriers undergoing IVF for preimplantation genetic diagnosis (PGD) or fertility preservation were compared with non-BRCA PGD or fertility preservation patients, matched by age, IVF protocol, IVF center, and cancer disease status. INTERVENTION(S) In vitro fertilization cycles for PGD and fertility preservation. MAIN OUTCOME MEASURE(S) Outcome of IVF: oocyte yield, poor response rate, number of zygotes, pregnancy rates. RESULT(S) A total of 62 BRCA mutation carriers and 62 matched noncarriers were included; 42 were fertility preservation breast cancer patients, and 82 were PGD non-cancer patients. Mean (± SD) age of patients was 32 ± 3.58 years. Number of stimulation days and total stimulation dose were comparable between carriers and noncarriers. Their cycles resulted in comparable oocyte yield (13.75 vs. 14.75) and low response rates (8.06% vs. 6.45%). Number of zygotes, fertilization rates, and conception rates were also comparable. CONCLUSION(S) Both healthy and cancer-affected BRCA mutation carriers demonstrated normal ovarian response in IVF cycles.

Ovarian reserve and PGD treatment outcome in women with myotonic dystrophy

Myotonic dystrophy (DM) is the most common form of muscular dystrophy in adults. There are conflicting reports about its effect on female fertility. This study investigated ovarian reserve and IVF-preimplantation genetic diagnosis (PGD) outcome in women with DM1. A total of 21 women undergoing PGD for DM1 were compared with 21 age- and body mass index-matched women undergoing PGD for other diseases. Ovarian reserve markers, response to stimulation, embryo quality and clinical pregnancy and live birth rates were compared. Day-3 FSH concentration was higher, while anti-Müllerian hormone concentration and antral follicle count were lower in the DM1 group (median, range: 6.9 (1.8-11.3) versus 5.7 (1.5-10.7)IU/l; 0.9 (0.17-5.96) versus 2.68 (0.5-9.1)ng/ml; and 13 (0-63) versus 23 (8-40) follicles, respectively, all P < 0.05). Total FSH dose was higher (5200 versus 2250 IU, P = 0.004), while the numbers of oocytes retrieved (10 versus 16, P < 0.04) and metaphase-II oocytes (9 versus 12, P < 0.03) were lower in the DM1 group. The number of cycles with top-quality embryos and the clinical pregnancy rate were lower in the DM1 group. In conclusion, there is evidence of diminished ovarian reserve and less favourable IVF-PGD outcome in women with DM1. Myotonic Dystrophy (DM) is the most common form of muscular dystrophy in adults. There is evidence of subfertility in males affected with the disease but conflicting reports about the effect of the disease on female fertility. The aim of our study was to investigate ovarian reserve and IVF-PGD results in women with DM. Twenty-one women undergoing preimplantation genetic diagnosis (PGD) treatment for DM were compared to 21 age- and BMI matched women undergoing PGD treatment for other diseases. The two groups were compared for antral follicle count (AFC) and serum anti-Mullerian hormone (AMH) levels (the best known markers of ovarian reserve and fertility potential), ovarian response, embryo quality and pregnancy and live birth rates. AFC and the AMH levels were statistically significant lower in the DM group. Total medication dose needed for ovarian stimulation was higher, the number of oocytes and mature oocytes retrieved, and the number of cycles with top quality embryos were lower in the DM group compared to the controls. In conclusion, there is evidence of diminished ovarian reserve, and less favorable IVF-PGD outcome in women with DM. Therefore, we recommend advising these women about the possibility of early decreasing ovarian function in order to prevent any delay in reproductive planning.

265: Induction at term for women with gestational diabetes mellitus (GDM): safe for the mother but questionable for the neonate

diabetes mellitus (GDM): safe for the mother but questionable for the neonate Maayan Bas-Lando, Naama Srebnik, Arnon Samueloff, Rivka Farkash, Sorina Grisaru-Granovsky Shaare Zedek MC, Affiliated to the Hebrew University Medical School, Obstetrics and Gynecology, Jerusalem, Israel, Shaare Zedek MC, Affiliated to the Hebrew University Medical School, Computerized Database Systems, Jerusalem, Israel OBJECTIVE: Induction at term is considered the mainstream for women with GDM in order to decrease macrosomia related complications. However, it is likely to increase the cesarean section (CS) rate. We aimed to evaluate the influence of this approach on the cesarean section rate. STUDY DESIGN: Cohort study of 73,800 births at a tertiary center, between 2005-2011 based on computerized perinatal database. The study group (Group 1) included all women with singleton, head presentation, EFW 4,000 gms, for which a diagnosis of GDM was the indication for induction (38-41 wks). GDM diagnosis was based on all criteria: National Diabetes Data Group, Carpenter & Coustan and OGTT 1 abnormal value. The control group (Group 2) included all healthy women admitted for induction due to ruptured membranes at term, normoglycemic (GCT 130mg/dl or normal OGTT). The main outcome was the CS rate whilst secondary measurements were maternal and neonatal outcomes. Statistics analyses were descriptive as well as, univariate and multivariate comparisons OR (95%CI). RESULTS: We identified 240 women in Group 1 and 1690 in Group 2. Group 1 glycemic control (mean glucose 72 hrs (p 0.2 and 0.3 respectively). CONCLUSION: Induction at term for GDM is not associated with any increase in the maternal risks. Whether the risk of shoulder dystocia is augmented by induction of labor in women with GDM should be carefully evaluated in future multicenter studies.