Mone Fionnuala, Doyle Samantha, Ahmad Asfa, Abu Subieh Hala, Hamilton Susan, Allen Stephanie, Marton Tamas, Williams Denise, Kilby Mark D
Fetal Medicine Centre, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Institute of Metabolism and Systems Research, College of Medical & Dental Sciences, University of Birmingham, Birmingham, UK.
Acta Obstet Gynecol Scand. 2021 Mar;100(3):418-424. doi: 10.1111/aogs.14036. Epub 2020 Nov 27.
Consanguineous unions occur when a couple are related outside marriage and is associated with adverse genetic and perinatal outcomes for affected offspring. The objectives of this study were to evaluate: (i) background characteristics, (ii) uptake of prenatal and postnatal investigation and (iii) diagnostic outcomes of UK consanguineous couples presenting with a fetal structural anomaly.
This was a retrospective and partly prospective cohort study comparing consanguineous (n = 62) and non-consanguineous (n = 218) pregnancies with current or previous fetal structural anomalies reviewed in a UK prenatal genetic clinic from 2008 to 2019. Outcomes were compared using odds ratios (OR).
Most consanguineous couples were of Pakistani ethnicity (odds ratio [OR] 29, 95% confidence interval [95% CI] 13-62) and required use of an interpreter [OR 9, 95% CI 4-20). In the consanguineous group, the uptake of prenatal invasive testing was lower (OR 0.4, 95% CI 0.2-0.7) and the number declining follow up was greater (OR 10, 95% CI 3-34) than in the non-consanguineous group. This likely explained the lower proportion of consanguineous couples where a final definitive unifying diagnosis to explain the fetal structural anomalies was reached (OR 0.3, 95% CI 0.2-0.6). When a diagnosis was obtained in this group, it was always postnatal and most often using genomic sequencing technologies (OR 6, 95% CI 1-27). The risk of perinatal death was greater (OR 3, 95% CI 1-6) in the consanguineous group, as was the risk of fetal structural anomaly recurrence in a subsequent pregnancy (OR 4, 95% CI 1-13). There was no difference in the uptake of perinatal autopsy or termination of pregnancy between groups.
Consanguineous couples are a vulnerable group in the prenatal setting. Although adverse perinatal outcomes in this group are more common secondary to congenital anomalies, despite the evolution of genomic sequencing technologies, due to a lower uptake of prenatal testing it is less likely that a unifying diagnosis is obtained and recurrence can occur. There is a need for proactive genetic counseling and education from the multidisciplinary team, addressing language barriers as well as religious and cultural beliefs in an attempt to optimize reproductive options.
近亲结婚是指夫妻双方在婚姻之外存在亲属关系，这与受影响后代的不良遗传和围产期结局相关。本研究的目的是评估：（i）背景特征；（ii）产前和产后检查的接受情况；（iii）出现胎儿结构异常的英国近亲夫妻的诊断结果。
这是一项回顾性且部分前瞻性的队列研究，比较了2008年至2019年在英国一家产前基因诊所接受检查的有当前或既往胎儿结构异常的近亲妊娠（n = 62）和非近亲妊娠（n = 218）。使用比值比（OR）比较结果。
大多数近亲夫妻为巴基斯坦族裔（比值比[OR] 29，95%置信区间[95%CI] 13 - 62），且需要使用翻译人员[OR 9，95%CI 4 - 20]。在近亲组中，产前侵入性检查的接受率较低（OR 0.4，95%CI 0.2 - 0.7），失访人数较多（OR 10，95%CI 3 - 34），高于非近亲组。这可能解释了近亲夫妻中最终达成明确统一诊断以解释胎儿结构异常的比例较低（OR 0.3，95%CI 0.2 - 0.6）。当该组获得诊断时，总是在产后，且最常使用基因组测序技术（OR 6，95%CI 1 - 27）。近亲组围产期死亡风险更高（OR 3，95%CI 1 - 6），后续妊娠中胎儿结构异常复发的风险也更高（OR 4，95%CI 1 - 13）。两组在围产期尸检或终止妊娠的接受情况方面没有差异。
近亲夫妻在产前环境中是弱势群体。尽管该组不良围产期结局因先天性异常更为常见，尽管基因组测序技术不断发展，但由于产前检查接受率较低，获得统一诊断的可能性较小，且可能发生复发。多学科团队需要积极提供遗传咨询和教育，解决语言障碍以及宗教和文化信仰问题，以优化生殖选择。
