27 years of prenatal diagnosis for Huntington disease in the United Kingdom.

Purpose: There is little long-term, population-based data on uptake of prenatal diagnosis for Huntington disease (HD), a late-onset autosomal dominant neurodegenerative disorder, and the effect of the availability of preimplantation genetic diagnosis (PGD) on families' decisions about conventional prenatal diagnosis is not known. We report trends in prenatal diagnosis and preimplantation diagnosis for HD in the United Kingdom since services commenced.

Methods: Long-term UK-wide prospective case record-based service evaluation in 23 UK Regional Genetic Centres 1988-2015, and four UK PGD centers 2002-2015.

How do partners find out about the risk of Huntington's disease in couple relationships?

Whilst a growing body of work has explored family communication about Huntington's disease and how at-risk individuals learn about their risk, the experience of telling a partner and partners' experiences of finding out about this potentially devastating hereditary illness have received little attention. This study describes the experiences of partners in finding out about Huntington's disease and any impact on couple's relationships/marriages. We undertook a thematic analysis of qualitative interviews which explored the dynamics of partners' marriages after predictive testing and partners' views of genetic counseling.

Factor analysis of behavioural symptoms in Huntington's disease.

A principal-components factor analysis was performed on behavioural data obtained from the European Huntington's Disease Network REGISTRY study. 1690 valid assessments using the United Huntington's Disease Rating Scale Behavioural Rating Scale were included in the analysis. This large data set confirmed previous reports of distinct behavioural patterns within Huntington's disease comprising a depressive factor, a dysexecutive factor, an irritability factor and a psychosis factor.

How young people find out about their family history of Huntington's disease.

Family communication about adult-onset hereditary illness can be problematic, leaving some relatives inadequately informed or ignorant of their risk. Although studies have explored the barriers and facilitators in family communication about genetic risk, questions remain about when, what, how and indeed whether to tell relatives. The process of disclosure is also dependent upon the way in which genetic information is realized and understood by recipients, but research here is limited.

Mycophenolate mofetil embryopathy may be dose and timing dependent.

Mycophenolate mofetil (MMF) is an immunosuppressive agent that has now been recognized as teratogenic in humans. A pattern of malformations from in utero exposure to MMF has recently been described, and includes cleft lip and palate, microtia and atresia of the external auditory canal. We present a nulliparous mother who had taken MMF for recurrent erythema multiforme for the first 5 weeks of her pregnancy, and developed a spontaneous miscarriage during the seventh week of pregnancy.

Late stage care in Huntington's disease.

Huntington's disease (HD) is a relentlessly progressive neurodegenerative disease, which is presently incurable. Despite the hope for future therapies that exists for the families, they meantime are aware that there is little that their clinicians can do to delay either onset or progression of the disease. There are unique issues to address in a disorder where patients are aware in advance that their ability to communicate, as well as their cognitive capacity, will become impaired.

Genetic professionals' reports of nondisclosure of genetic risk information within families.

Patients attending genetic clinics are often the main gatekeepers of information for other family members. There has been much debate about the circumstances under which professionals may have an obligation, or may be permitted, to pass on personal genetic information about their clients but without their consent to other family members. We report findings from the first prospective study investigating the frequency with which genetics professionals become concerned about the failure of clients to pass on such information to their relatives.

Family communication about genetic risk: the little that is known.

Although family communication is important in clinical genetics only a small number of studies have specifically explored the passing on of genetic knowledge to family members. In addition, many of these present exploratory or tentative findings based upon small sample sizes, or data collected only a short time after testing. Nevertheless, if health professionals are to develop effective strategies to help patients' deal with communication issues, we need to know more about what actually happens in families.

Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course.

Huntington disease is caused by a dominantly transmitted CAG repeat expansion mutation that is believed to confer a toxic gain of function on the mutant protein. Huntington disease patients with two mutant alleles are very rare. In other poly(CAG) diseases such as the dominant ataxias, inheritance of two mutant alleles causes a phenotype more severe than in heterozygotes.

New challenges for gamete donation programmes: changes in guidelines are needed.

In the UK, the Human Fertilisation and Embryology Act 1990 prevents children born as a result of donor-assisted conception from gaining access to identifying information about their genetic origins. There is growing concern that current screening protocols regarding gamete donation are ill-suited, especially in relation to genetic disease. There are no guidelines addressing the issues of confidentiality that might arise if a disease emerges after insemination and establishment of pregnancy.

Prenatal testing for Huntington's disease: a European collaborative study.

This European study involving seven genetic centres from six countries - Aberdeen, Cardiff (UK), Leiden (Netherlands), Leuven (Belgium), Paris (France), Rome (Italy), Athens (Greece) has gathered information on prenatal testing by direct mutation analysis and exclusion testing for Huntington's disease (HD) from the six European countries during the period 1993-1998. Data describing the parent belonging to the HD family was collected; this included their sex and age as well as their risk of developing HD. Information about previous pregnancies, the rank of the pregnancy being tested and its outcome was also gathered.