Cogan Guillaume, Troadec Marie-Bérengère, Devillard Françoise, Saint-Frison Marie-Hélène, Geneviève David, Vialard François, Rial-Sebbag Emmanuelle, Héron Delphine, Attie-Bitach Tania, Benachi Alexandra, Saugier-Veber Pascale
Département de génétique médicale, AP-HP Sorbonne Université, UF de Neurogénétique Moléculaire et Cellulaire, Hôpital Pitié-Salpêtrière, Paris, France.
Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.
Prenat Diagn. 2025 Mar;45(3):299-309. doi: 10.1002/pd.6692. Epub 2024 Nov 12.
Prenatal whole exome sequencing (pES) is increasingly prescribed for fetuses with ultrasound anomalies. Starting from the local French prenatal medicine practice, healthcare system and legal landscape, we aimed to address the broad medical and ethical issues raised by the use of pES for women and couples as well as for prenatal care providers.
The French Federation of Human Genetics established a working group composed of clinicians and biologists from all over France to discuss pES challenges. A literature review was also performed.
We emphasize the importance of non-directive information that helps couples make a decision that is consistent with their personal values and ideas. We address the difficulty of obtaining informed consent that respects the couple's autonomy, despite the complexity of the information and regardless of their level of education and cultural background. We address whether variants of uncertain significance and unsolicited results should be reported. We emphasize the need for national harmonization of access to pES and the need for multidisciplinary meetings in complex situations. We point out that the specific French context of healthcare financing and the French law have a major influence on medical care organization and support for couples. The outcome of the working group is the development of 12 proposals.
This opinion statement, dedicated to prenatal care providers worldwide although linked to the French context, will provide food for thought and assist them in understanding the complexity and implications of pES.
对于有超声异常的胎儿，越来越多地采用产前全外显子组测序（pES）。从法国当地的产前医学实践、医疗保健系统和法律环境出发，我们旨在探讨使用pES给女性、夫妇以及产前护理提供者带来的广泛医学和伦理问题。
法国人类遗传学联合会成立了一个由来自法国各地的临床医生和生物学家组成的工作组，以讨论pES面临的挑战。还进行了文献综述。
我们强调非指导性信息的重要性，它有助于夫妇做出符合其个人价值观和想法的决定。我们探讨了获得尊重夫妇自主权的知情同意的困难，尽管信息复杂且不论其教育水平和文化背景如何。我们讨论了是否应报告意义不明确的变异和主动提供的结果。我们强调需要在全国范围内统一pES的获取途径，以及在复杂情况下召开多学科会议的必要性。我们指出，法国医疗保健融资的具体情况和法国法律对医疗组织和对夫妇的支持有重大影响。工作组的成果是制定了12项建议。
本意见声明虽然与法国背景相关，但面向全球的产前护理提供者，将引发思考并帮助他们理解pES的复杂性和影响。
