Locock Louise, Kai Joe
Department of Primary Care, University of Oxford, Oxford.
Br J Gen Pract. 2008 Mar;58(548):161-8. doi: 10.3399/bjgp08X277276.
England is the only country in the world that currently has universal population screening for haemoglobin disorders through linked antenatal and newborn screening. Little is known about the acceptability of such screening.
To explore parents' experiences of, and attitudes towards, new universal genetic screening for haemoglobin disorders.
Narrative interview study.
Primary and community care settings across England.
Narrative interviews were undertaken with a maximum variation sample of 39 people who had experienced gene-carrier identification through antenatal and newborn screening for sickle cell, thalassaemia, and other haemoglobin variants within the previous 2 years.
Most parents were unaware screening had occurred or had given it little consideration and so were surprised or shocked by results. However, they were glad to learn of their carrier status, reproductive genetic risk, or their newborn's carrier status. Participants emphasised that antenatal screening should happen as early as possible. Many would rather have known their carrier status before pregnancy or before entering a relationship. Although most were satisfied with the information they received, significant misunderstandings remained. There were culturally diverse attitudes towards prenatal diagnosis and termination. These procedures were acceptable to some parents with strong religious beliefs, including Christians and Muslims.
Parents support screening for haemoglobin disorders but need to be better informed and better prepared for results and what they mean. Sensitivity to patient diversity in attitudes and choices is also required. Universal screening for genetic reproductive risk will increasingly involve generalists, particularly in primary care, presenting opportunities for screening before or earlier in pregnancy, which is likely to be welcomed by patients.
英国是世界上唯一一个目前通过关联的产前和新生儿筛查对血红蛋白疾病进行全民筛查的国家。对于这种筛查的可接受性知之甚少。
探讨父母对新的血红蛋白疾病全民基因筛查的经历和态度。
叙事访谈研究。
英国各地的初级和社区护理机构。
对39人进行了叙事访谈，这些人是从过去两年内通过产前和新生儿筛查镰状细胞病、地中海贫血及其他血红蛋白变体而进行基因携带者鉴定的人群中，按照最大差异抽样选取的。
大多数父母不知道已经进行了筛查，或者对此考虑甚少，因此对结果感到惊讶或震惊。然而，他们很高兴得知自己的携带者状态、生殖遗传风险或新生儿的携带者状态。参与者强调产前筛查应尽早进行。许多人宁愿在怀孕前或开始恋爱前就知道自己的携带者状态。尽管大多数人对所获得的信息感到满意，但仍存在重大误解。对于产前诊断和终止妊娠存在不同文化背景的态度。包括基督教徒和穆斯林在内的一些有坚定宗教信仰的父母接受这些程序。
父母支持对血红蛋白疾病进行筛查，但需要更好地了解相关信息，并对结果及其意义做好更充分的准备。还需要对患者在态度和选择上的多样性保持敏感。对生殖遗传风险进行全民筛查将越来越多地涉及全科医生，尤其是在初级保健领域，这为在怀孕前或更早进行筛查提供了机会，这可能会受到患者的欢迎。
