Prenatal Testing in Huntington Disease: After the Test, Choices Recommence

Overview

Journal Eur J Hum Genet

Specialty Genetics

Date 2016 Jun 16

PMID 27302844

Citations 1

Authors

Hanane Bouchghoul

Stephane-Francoise Clement

Daniele Vauthier

Cecile Cazeneuve

Sandrine Noel

Marc Dommergues

Delphine Heron

Jacky Nizard

Marcela Gargiulo

Alexandra Durr

Affiliations

Soon will be listed here.

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.

Citing Articles

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

Wadrup F, Holden S, MacLeod R, Miedzybrodzka Z, Nemeth A, Owens S Eur J Hum Genet. 2019; 27(8):1215-1224.

PMID: 30890781 PMC: 6777622. DOI: 10.1038/s41431-019-0375-8.

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