Prenatal genetic testing and analysis in the past was usually only offered when a particular fetal phenotype was noted or suspected, meaning that filtering and interpretation of genetic variants identified could be anchored in attempts to explain an existing health concern. Advanced genomic testing is now increasingly used in “low-risk” pregnancies, producing information on genotype adrift of the phenotypic data that is necessary to give it meaning, thus increasing the difficulty in predicting whether and how particular genetic variants might affect future development and health. A challenge to healthcare scientists, clinicians, and parents therefore is deciding what qualities prenatal genotypic variation should have in order to be constructed as a ‘result.’ At the same time, such tests are often re requested in order to make binary decisions about whether to continue a pregnancy or not. As a range of professional organizations develop guidelines on the use of advanced genomic testing during pregnancy, we highlight the particular difficulties of discovering ambiguous findings such as variants with uncertain clinical significance, susceptibility loci for neurodevelopmental problems and susceptibility to adult-onset diseases. We aim to foster international discussions about how decisions around disclosure are made and how uncertainty is communicated.

过去，产前基因检测和分析通常仅在发现或怀疑特定胎儿表型时才提供，这意味着对已识别的基因变异的过滤和解释可以锚定以试图解释现有的健康问题。先进的基因组测试现在越来越多地用于“低风险”怀孕，产生关于表型数据的基因型漂移信息，这是赋予其意义所必需的，从而增加了预测特定基因变异是否以及如何影响未来发育和健康的难度. 因此，医疗保健科学家、临床医生和父母面临的挑战是决定产前基因型变异应该具备哪些品质才能被构建为“结果”。同时，经常要求进行此类测试，以便就是否继续怀孕做出二元决定。随着一系列专业组织制定有关在怀孕期间使用高级基因组检测的指南，我们强调了发现模棱两可的发现的特殊困难，例如具有不确定临床意义的变异、神经发育问题的易感基因位点和对成人发病疾病的易感性。我们的目标是促进关于如何制定有关披露的决定以及如何传达不确定性的国际讨论。我们强调了发现模棱两可的发现的特殊困难，例如具有不确定临床意义的变异、神经发育问题的易感基因座和对成人发病疾病的易感性。我们的目标是促进关于如何制定有关披露的决定以及如何传达不确定性的国际讨论。我们强调了发现模棱两可的发现的特殊困难，例如具有不确定临床意义的变异、神经发育问题的易感基因座和对成人发病疾病的易感性。我们的目标是促进关于如何制定有关披露的决定以及如何传达不确定性的国际讨论。