Family Practice Residency Program, Ministry of Health, Manama, Kingdom of Bahrain.
College of Medicine and Medical Sciences, Arabian Gulf University, Manama, Kingdom of Bahrain.
J Med Screen. 2023 Dec;30(4):161-167. doi: 10.1177/09691413231169820. Epub 2023 Apr 17.
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.
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.
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.
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.
血红蛋白病是最常见的遗传性血液疾病，在全球范围内构成严重负担，影响着社区、患者的生活质量和医疗保健资源。巴林王国颁布了一项法律，规定夫妻双方在婚前必须进行筛查，以发现那些有生育患有此类疾病子女风险的人。本研究旨在分析血红蛋白病风险夫妇的婚姻决策，并对其结果进行随访。
对 2018 年至 2020 年期间在巴林王国当地卫生中心婚前筛查计划中发现并转介至萨利曼尼亚医疗综合体遗传咨询部门的血红蛋白病风险夫妇进行回顾性研究。
共发现 189 对血红蛋白病风险夫妇，其中 159 对完成了调查。其中，107 对（67%）决定继续结婚，26 对夫妇怀孕。在已知结局的 24 例风险妊娠中，83.3%为自发性，仅有 16.7%行体外受精（IVF）结合胚胎植入前遗传学诊断（PGD）。20 名夫妇自然受孕后出生的婴儿中有 8 名受到影响。60%的风险夫妇对 IVF 结合 PGD 持积极态度。
尽管进行了婚前筛查和遗传咨询，但仍有很大比例的风险夫妇决定结婚。他们中的大多数人认为，由于先进的方法可帮助预防生育患病子女，因此他们的决定是合理的。然而，这种干预的费用对大多数夫妇来说是一个主要障碍。
