Assessing frequency and clinical outcomes of BRCA mutated ovarian cancer in Saudi women.

PURPOSE: BRCA gene mutations (BRCAm) have an impact on patients' characteristics and clinical outcomes of ovarian cancer (OC). The frequency and patterns of BRCAm vary among countries and ethnicities. There are limited data from Saudi Arabia (SA); thus, this study aims to determine the frequency, pattern, and impact on patient characteristics and outcomes of BRCAm OC compared to wild-type BRCA (BRCAw) in Saudi women. METHODS: This retrospective study evaluated women diagnosed with non-mucinous OC, fallopian tube, or peritoneal carcinoma who had BRCA status tested in an accredited lab between January 2016 and December 2017. The associations between various parameters and BRCAm were estimated using logistic regression. Statistical analysis performed with SPSS (Version 27). RESULT: Sixty-one women with a median age of 52 at diagnosis were analyzed. Germline BRCA mutations were found in 41% of cases (25/61). The most common deleterious germline BRCA1 mutation was c.1140dupG (39%). Most women (72%) had no family history of cancers and 82% had advanced stage. Regardless of BRCA mutations, an optimal overall response rate (ORR) to first-line treatment has been achieved although most cases relapsed (84%) and the majority were platinum-sensitive relapse (85%). Higher ORR to subsequent lines and better survival were obtained in women with BRCA-mutation. CONCLUSION: The prevalence of BRCAm of OC was higher in Saudi women compared to regional and most of the international figures. The better clinical outcomes of BRCAm women agreed with the reported evidence. Further studies on BRCA mutations of OC and genetic counseling are highly recommended. TRIAL REGISTRATION: Trial approved by the Institutional Review Board of King Faisal Specialist Hospital and Research Center (RAC # 2171137) and conducted at King Faisal Specialist Hospital and Research Center, PO Box 3354, Riyadh 11,211, Saudi Arabia.

Maternal complications and the association with baseline variables in pregnant women with sickle cell disease.

Sickle cell disease is an inherited hemoglobinopathy with multi system complications. It has been associated with multiple maternal complications. A retrospective review of 68 consecutive pregnant women with sickle cell disease, followed in a tertiary center, was conducted over 5 years, to estimate the incidence of different maternal complications and the impact of baseline characteristics. Sixty-eight patients were analyzed (mean age 30 years). Sixty-two patients had a Hb SS genotype. The initial mean hemoglobin (Hb) level was 9.5 g/dL. Twelve patients delivered by Cesarean section. Sixty-five patients required admission for sickle cell disease/pregnancy-related complications [96.0%; 95% confidence interval (95% CI) 91-100]. Infection was seen in 17 patients (25.0%, 95% CI 14-36). Blood transfusions were given to 61 patients (90.0%, 95% CI 82-97). Eight patients had gestational hypertension (18.0%, 95% CI 4-20), while five patients (7.0%, 95% CI 1-14) had pre term labor. One patient developed eclampsia and one had a uterine rupture. One patient died due to post partum hemorrhage. The multi variable logistic regression model on the impact on the major maternal complications revealed none of the baseline factors to be statistically significant. Sickle cell disease patients have low mortality and pregnancy-related morbidity but high sickle cell disease-related morbidity. Prospective studies are needed to confirm these results.

Fetal outcomes in pregnant women with sickle cell disease.

OBJECTIVE: To investigate fetal outcomes in pregnant women with sickle cell disease (SCD), and to analyze the impact of baseline variables on those outcomes. METHODS: This is a retrospective cohort study carried out over 5 years (June 2006 to August 2011) investigating fetal outcomes at Sultan Qaboos University Hospital, Muscat, Oman. Sixty-eight consecutive pregnant women with SCD (62 women with hemoglobin sickle cell anemia [SS] genotype) were included and analyzed in the study. Multivariable logistic regression was used to estimate the impact of baseline variables on major fetal complications (intrauterine growth restriction, intrauterine fetal death, and low birth weight babies, perinatal mortality, and admission to the neonatal unit). RESULTS: The mean maternal age was 30 years +/-3.8. Mean gestational age at delivery was 37 weeks +/-1.8. The initial mean hemoglobin was 9.5 g/dl (standard deviation [SD] 1.1, range 7.2-11.9). The mean baseline hemoglobin F was 10.2 (SD 6.6, range 0.7-29). There were 11 cases (16.2%) of intrauterine growth restriction (95% confidence interval [CI]: 7.2-25.2), and 19 cases of fetal distress (27.9%; 95% CI: 17.0-38.9). Low birth weight was seen in 22 cases (32.4%, 95% CI: 20.9-43.8) with a mean weight of 2.6 Kg (SD: 0.47, range 1.2-3.9). There were 2 neonatal deaths. On multivariate logistic regression for a composite of fetal outcomes, none of those variables were of statistical significance. CONCLUSION: The adverse fetal outcomes in pregnant women with SCD are high compared with the general population. There is no significant difference in fetal outcome between SCD, SS genotype versus others.