Punt Marieke C, Aalders Tanja H, Bloemenkamp Kitty W M, Driessens Mariette H E, Fischer Kathelijn, Schrijvers Marlies H, van Galen Karin P M
Van Creveldkliniek, University Medical Center Utrecht, University Utrecht, Utrecht, The Netherlands.
Department of Obstetrics, Birth Centre Wilhelmina's Children Hospital, Division Woman and Baby, University Medical Centre Utrecht, University of Utrecht, Utrecht, The Netherlands.
J Thromb Haemost. 2020 Jul;18(7):1626-1636. doi: 10.1111/jth.14825. Epub 2020 May 12.
Hemophilia carriers (HCs) face specific psychosocial challenges related to pregnancy, caused by their inherited bleeding disorder. Optimal support from healthcare providers can only be realized by exploring medical and psychological healthcare requirements.
To review all published evidence on the experiences and attitudes of HCs regarding reproductive decision-making, prenatal diagnosis, pregnancy, childbirth, and puerperium to provide an accessible overview of this information for health care providers.
Cochrane library, PubMed/MEDLINE, EMBASE, CINAHL, and PsycINFO were searched for original qualitative data. Two authors performed study selection, risk-of-bias assessment, data extraction, and data analysis through meta-summary. The extracted themes were discussed within the research team.
Fifteen studies with an overall moderate quality were included. The following findings were identified: (a) Quality of life of family members with hemophilia influences reproductive decision-making; (b) Genetic counselling is generally considered useful; (c) The development of a specialized carrier clinic is considered valuable; (d) HCs describe prenatal diagnosis as beneficial yet psychosocially challenging; and (e) noninvasive prenatal diagnosis and preimplantation genetic diagnosis are predominantly considered beneficial. These findings are limited by the overall moderate quality of included studies and the possibly partly outdated results in the current era of hemophilia treatment.
Available qualitative literature on HCs around pregnancy focuses on genetic counselling and prenatal diagnosis. Future studies are needed on the experiences and needs of HCs through pregnancy and puerperium as well as in light of emerging hemophilia diagnosis and treatment options.
血友病携带者（HCs）因其遗传性出血性疾病，在妊娠方面面临特定的社会心理挑战。只有通过探究医疗和心理保健需求，才能实现医疗保健提供者的最佳支持。
回顾已发表的关于HCs在生殖决策、产前诊断、妊娠、分娩及产褥期的经历和态度的所有证据，为医疗保健提供者提供该信息的易获取概述。
在Cochrane图书馆、PubMed/MEDLINE、EMBASE、CINAHL和PsycINFO中检索原始定性数据。两位作者通过元总结进行研究选择、偏倚风险评估、数据提取和数据分析。研究团队内部讨论了提取的主题。
纳入了15项总体质量中等的研究。确定了以下结果：（a）血友病家庭成员的生活质量影响生殖决策；（b）遗传咨询通常被认为是有用的；（c）专门的携带者诊所的发展被认为是有价值的；（d）HCs将产前诊断描述为有益但在社会心理方面具有挑战性；（e）非侵入性产前诊断和植入前基因诊断主要被认为是有益的。这些结果受到纳入研究总体质量中等以及在当前血友病治疗时代可能部分过时的结果的限制。
关于HCs妊娠的现有定性文献侧重于遗传咨询和产前诊断。未来需要针对HCs在妊娠和产褥期的经历和需求以及鉴于新出现的血友病诊断和治疗选择开展研究。
