Outcome of premarital genetic counseling for couples at risk of hemoglobinopathies in Kingdom of Bahrain.

OBJECTIVES: Hemoglobinopathies are the commonest inherited blood disorders and form a serious burden worldwide, affecting communities, patient quality of life and healthcare resources. The Kingdom of Bahrain has issued a law obligating couples to undergo premarital screening to detect those at risk of having children affected with these disorders. The aim of this study was to analyze the marital decisions of couples at risk for hemoglobinopathies and follow up the outcomes. METHODS: A retrospective study was conducted on couples at risk for hemoglobinopathies identified during the premarital screening program at local health centers in the Kingdom of Bahrain and referred to the genetics department in the Salmaniya Medical Complex for genetic counselling in 2018-2020. RESULTS: A total of 189 couples were found to be at risk for hemoglobinopathies, of whom 159 completed the survey. Of these, 107 (67%) decided to proceed with their marriage and 26 couples achieved pregnancy. Out of 24 at-risk pregnancies with known outcome, 83.3% were spontaneous whereas only 16.7% underwent in-vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD). Eight out of 20 infants born to couples after spontaneous conception were affected. A positive attitude toward IVF with PGD was held by 60% of at-risk couples. CONCLUSIONS: Despite undergoing premarital screening and genetic counselling, a large percentage of at-risk couples proceeded with their marriage. Most of them justified their decision due to the availability of advanced methods that aid in the prevention of having an affected child. However, the cost of such intervention was a major barrier for the majority of couples.

Clear Cell Carcinoma of the Endometrium in a Patient Presenting with Postmenopausal Bleeding but Negative Endometrial Biopsy.

Endometrial carcinoma is the most common gynecological malignancy in the USA with approximately 66,570 cases and 12,940 deaths in 2020. Clear cell carcinoma (CCC) of the endometrium is an estrogen-independent type II endometrial cancer which accounts for <5% of endometrial cancer. When diagnosed roughly, 45% of patients have extrauterine metastases. Current American College of Obstetrics and Gynecology guidelines recommend transvaginal ultrasound for postmenopausal bleeding and a biopsy for those with endometrial thickness >5 mm. However, we present a case of a postmenopausal woman with a history of fibroid where endometrial biopsy has failed to make diagnosis twice. Hence, further testing should be performed in patients with unexplained postmenopausal bleeding including vaginal hysterectomy with lymph node dissection.