East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Academic Department of Medical Genetics, Addenbrooke's Treatment Centre, Cambridge Biomedical Campus, Cambridge, UK.
Eur J Hum Genet. 2019 Aug;27(8):1215-1224. doi: 10.1038/s41431-019-0375-8. Epub 2019 Mar 19.
Huntington's disease (HD) is a severe neurodegenerative condition that impacts the whole family. Prenatal diagnosis by direct or exclusion testing is available for couples at risk of transmitting HD to their children. An ethical problem can arise after prenatal diagnosis for HD if a known 'high risk' pregnancy is continued to term: international guidelines emphasise that this situation should be avoided where possible, as it removes the resulting child's future right to make an informed, autonomous decision about predictive testing. The UK Huntington's Disease Predictive Testing Consortium recorded 21 pregnancies that were tested, identified as high-risk and then continued. In this qualitative study, health professionals reviewed the case notes of 15 of these pregnancies. This analysis generated guidelines for clinical practice. It is recommended that practitioners: (i) remind couples of the long-term consequences of continuing a high risk pregnancy, (ii) ensure couples understand the information provided, (iii) collaborate closely with other professionals involved in the couple's prenatal care, (iv) prepare couples for the procedural aspects of prenatal diagnosis and a possible termination of pregnancy, (v) allow time for in-depth pre-test counselling, (vi) explain the rationale for only making prenatal diagnosis available subject to conditions, whilst allowing for human ambivalence and acknowledging that these 'conditions' cannot be enforced, (vii) monitor the whole clinical process to ensure that it works 'smoothly', (viii) recommend couples do not disclose the result of the prenatal test to protect the confidentiality and autonomy of the future 'high-risk' child, and (ix) offer on-going contact and support.
亨廷顿病（HD）是一种严重的神经退行性疾病，会影响整个家庭。对于有遗传 HD 风险的夫妇，可以通过直接或排除测试进行产前诊断。如果已知“高风险”妊娠继续到足月，那么在 HD 产前诊断后可能会出现一个伦理问题：国际指南强调，应尽可能避免这种情况，因为这剥夺了孩子未来对预测测试做出知情、自主决定的权利。英国亨廷顿病预测测试联合会记录了 21 例经过测试、被认定为高风险并继续妊娠的病例。在这项定性研究中，医疗保健专业人员回顾了其中 15 例妊娠的病例记录。该分析为临床实践生成了指南。建议从业者：（i）提醒夫妇继续高风险妊娠的长期后果，（ii）确保夫妇理解提供的信息，（iii）与参与夫妇产前护理的其他专业人员密切合作，（iv）为夫妇做好产前诊断和可能终止妊娠的程序方面的准备，（v）允许进行深入的预测试咨询，（vi）解释仅在满足条件的情况下提供产前诊断的理由，同时允许存在人类的矛盾心理，并承认这些“条件”无法强制执行，（vii）监测整个临床过程，以确保其“顺利”运行，（viii）建议夫妇不要透露产前测试的结果，以保护未来“高风险”孩子的保密性和自主性，以及（ix）提供持续的联系和支持。
