Bouchghoul Hanane, Clément Stéphane-Françoise, Vauthier Danièle, Cazeneuve Cécile, Noel Sandrine, Dommergues Marc, Héron Delphine, Nizard Jacky, Gargiulo Marcela, Durr Alexandra
APHP, Department of Gynaecology-Obstetrics, University Hospital Pitié-Salpêtrière, Sorbonne Universities, Paris, France.
Department of Research in Ethics, EA1610, University Paris Sud, Orsay, France.
Eur J Hum Genet. 2016 Nov;24(11):1535-1540. doi: 10.1038/ejhg.2016.59. Epub 2016 Jun 15.
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.
（1）确定亨廷顿病（HD）的产前诊断（PND）对后续生殖选择和家庭结构的影响；（2）评估PND后出生的儿童是否被告知其基因状况。在354名年龄在18 - 45岁的HD基因突变症状前携带者中，61对夫妇申请了101次PND。54名女性，29名女性携带者和25名男性携带者的配偶，接受了关于其产科病史以及向PND后出生的孩子提供信息的访谈（最后一次PND后0.6 - 16.3年，中位数为6.5年）。女性愿意接受两次或更多次PND，最终成功率为75%。生殖决策因首次PND的结果而异。如果结果有利，62%的夫妇决定不再怀孕，10%选择生育未检测的孩子。如果结果不利，83%的夫妇决定再次怀孕（P<0.01），且大多数（87%）重新进入PND程序。相比之下，在第二次PND后，只有37%的夫妇要求进行PND，30%选择生育未检测的孩子。33%的夫妇既有检测过的孩子，也有未检测的孩子。在PND后出生且年龄在10岁及以上的儿童中，75%被告知其基因状况。防止HD突变传播的决定在每次怀孕时都会重新做出。PND后夫妇可能需要更多心理支持，产前咨询应考虑首次PND结果对后续生殖选择的影响。
