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

Abstract

There is little long-term, population-based data on uptake of prenatal diagnosis for Huntington Disease (HD) a late-onset autosomal dominant neuro-degenerative 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 pre-implantation 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 Counseling in Huntington's Disease: Potential New Challenges on Horizon?

“…Reproductive choices for at risk individuals include: (i) the wish to have a pregnancy free of HD and without the risk of a mutation carrier offspring; (ii) the decision to test an ongoing pregnancy by chorionic villous sampling, which may be performed at 8–10 weeks after conception (the sample obtained from chorionic villi can be tested), with the option of termination of the pregnancy if the fetus carries the HD mutation; (iii) the decision to eventually perform the predictive testing before requesting the prenatal diagnosis (by contrast, in case of positive result in the fetus before the at risk parent undergoes the presymptomatic test, the genetic status of the at-risk parent would be indirectly revealed); (iv) the request of pre-implantation genetic diagnosis (PGD) that is performed as part of an in vitro fertilization (IVF) procedure at specialized IVF centers (42). The counselor should discuss each of these options so that the at risk couple has a chance to make the most informed reproductive decision since the pre-pregnancy stage, in agreement with recently reports (43). Clear and unambiguous communication, as well as a proper psychological support, are essential features to prevent any misunderstanding (Table 1, Row D).…”

One decade ago, one decade ahead in huntington's disease

“…PGD combines genetic testing and in vitro fertilization techniques to ensure that only mutation-negative embryos are implanted; it need not require the at-risk parent to undergo HD genetic testing. 52 In some countries, PGD is provided through a socialized health-care system. Elsewhere, its access is restricted or it is not covered by health insurance, even though it is known to reduce the future financial burden of illness and may well be less costly and more effective than treatment with even the most successful next-generation therapeutic.…”

“…Reproductive technologies such as preimplantation genetic diagnosis (PGD) are increasingly shaping a new future in which HD‐impacted families can have children born free from the risk of inheriting the mutation. PGD combines genetic testing and in vitro fertilization techniques to ensure that only mutation‐negative embryos are implanted; it need not require the at‐risk parent to undergo HD genetic testing . In some countries, PGD is provided through a socialized health‐care system.…”

Prenatal and Preimplantation Genetic Diagnosis of Huntington's Disease

“…Certain trends in prenatal and preimplantation testing for HD in the United Kingdom have recently been reported since the start of testing [42].…”