Prenatal testing in Huntington disease: after the test, choices recommence

Abstract

The objective of this study was (1) to determine the impact of prenatal diagnosis (PND) for Huntington disease (HD) on subsequent reproductive choices and family structure; and (2) to assess whether children born after PND were informed of their genetic status. Out of 354 presymptomatic carriers of HD gene mutation, aged 18-45 years, 61 couples requested 101 PNDs. Fifty-four women, 29 female carriers and 25 spouses of male carriers, accepted to be interviewed (0.6-16.3 years after the last PND, median 6.5 years) on their obstetrical history and information given to children born after PND. Women were willing to undergo two or more PNDs with a final success rate of 75%. Reproductive decisions differed depending on the outcome of the first PND. If favourable, 62% couples decided against another pregnancy and 10% chose to have an untested child. If unfavourable, 83% decided for another pregnancy (P<0.01), and the majority (87%) re-entered the PND procedure. In contrast, after a second PND, only 37% asked for a PND and 30% chose to have an untested child. Thirty-three percent had both, tested and untested children. Among children born after PND, 10 years and older, 75% were informed of their genetic status. The decision to prevent transmission of the HD mutation is made anew with each pregnancy. Couples may need more psychological support after PND and pre-counselling sessions should take into account the effect of the outcome of a first PND on subsequent reproductive choices.

Motivation to perform presymptomatic testing in portuguese subjects at-risk for late-onset genetic diseases

“…The threatened maternity or paternity is one of the most distressing situations for these subjects. When they decide to have children, they have yet to make another decision: whether or not to perform prenatal testing (Bouchghoul et al, 2016), and this option may only be considered feasible if the person is willing to terminate the pregnancy in the case of the fetus is a carrier of the mutated gene. Although all of these options are considered and assessed step by step, the reality is that subjects at-risk admit they feel overwhelmed because they must take a significant number of important decisions in a short space of time (Bouchghoul et al, 2016).…”

“…When they decide to have children, they have yet to make another decision: whether or not to perform prenatal testing (Bouchghoul et al, 2016), and this option may only be considered feasible if the person is willing to terminate the pregnancy in the case of the fetus is a carrier of the mutated gene. Although all of these options are considered and assessed step by step, the reality is that subjects at-risk admit they feel overwhelmed because they must take a significant number of important decisions in a short space of time (Bouchghoul et al, 2016). Ethical (Kromberg & Wessels, 2013), legal (Freckelton, 2010(Freckelton, , 2014, financial, logistical and material aspects become the centre of general decisions related to life organization as a whole, depending on what is expected to happen to the subjects at-risk (Kromberg & Wessels, 2013).…”

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

“…Interestingly, a recent study in France found that reproductive decisions in HD are made afresh with each pregnancy, which reflects our findings. 24 A conflict-prone or troubled relationship might also be anticipated more often in these couples but, contrary to this, thirteen of the couples relationships were perceived to be close and supportive. Decruyenaere et al 12 also found agreement between spouses in decision-making for reproductive choice in HD, and Bouchghoul et al 24 found no significant impact of the outcome of PND for HD on couples relationship status over time.…”

“…Part of preparing couples for PND is establishing a defined timeline of events, often including set dates for an ultrasound dating scan, the CVS procedure, and the delivery of results. It is also known that waiting for the results of PND is difficult and distressing, 24,29 and that support with the practical arrangements for a TOP following unfavourable results is very important. 23 A number of couples in this cohort experienced delays during the PND process, which were thought to have contributed to their decisions to continue their pregnancies.…”

“…Cumulatively, however, these case histories highlight the complexity of the couples decision-making. Additional influences on decision-making for couples who have continued a high risk pregnancy include outcomes from previous PND, 24 doubting the at-risk parent s predictive test result, 23 TOP for a pregnancy at 50% risk in the case of exclusion testing, 10 ambivalence, and cognitive decline or emotional lability in the at-risk parent as a result of HD. 32 There is also the suggestion that, when couples discover their fetus has a smaller CAG repeat size than the affected parent, albeit still pathogenic, this may nurture their sense of hope for the future.…”