Many genetic disorders are detectable in the prenatal period, and the capacity to identify them has increased remarkably as molecular genetic testing techniques continue to improve and become incorporated into clinical practice. The indications for prenatal genetic testing vary widely, including follow-up of an anomaly found by routine ultrasound or maternal aneuploidy screening, a family history of genetic disease, advanced maternal or paternal age, or evaluation of a low-risk pregnancy due to parental concern. The interpretation of genetic variants identified in the prenatal period poses unique challenges due to the lack of ability for deep phenotyping as well as the option to make critical decisions regarding pregnancy continuation and perinatal management. In this review, we address the various modalities currently available and commonly used for genetic testing, including preimplantation genetic testing of embryos, cell-free DNA testing, and diagnostic procedures such as chorionic villous sampling, amniocentesis, or percutaneous umbilical blood sampling, from which samples may be sent for a wide variety of genetic tests. We discuss the difference between these modalities for the genetic diagnosis of a fetus, their strengths and weaknesses, and strategies for their optimal use in order to direct perinatal care.

许多遗传疾病在产前就可以检测到，并且随着分子遗传检测技术的不断改进并纳入临床实践，识别它们的能力显着提高。产前基因检测的适应症差异很大，包括对通过常规超声或母体非整倍体筛查发现的异常进行随访、遗传病家族史、高龄母体或父体年龄，或评估因父母担心而导致的低风险妊娠. 由于缺乏深度表型分析的能力以及就妊娠延续和围产期管理做出关键决定的选择权，对产前发现的遗传变异的解释提出了独特的挑战。在这篇评论中，我们介绍目前可用和常用于基因检测的各种方式，包括胚胎植入前基因检测、无细胞 DNA 检测和诊断程序，例如绒毛膜绒毛取样、羊膜穿刺术或经皮脐带血取样，可以从中发送样本用于各种基因测试。我们讨论了这些胎儿基因诊断方式的区别、它们的优点和缺点，以及它们的最佳使用策略，以指导围产期护理。