A case-note review of continued pregnancies found to be at a high risk of Huntington’s disease: considerations for clinical practice

Abstract

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.