Zemet Roni, Van den Veyver Ignatia B
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, Division of Prenatal and Reproductive Genetics, Baylor College of Medicine, Houston, TX, USA.
Best Pract Res Clin Obstet Gynaecol. 2024 Dec;97:102545. doi: 10.1016/j.bpobgyn.2024.102545. Epub 2024 Sep 5.
Genetic testing for prenatal diagnosis in the pre-genomic era primarily focused on detecting common fetal aneuploidies, using methods that combine maternal factors and imaging findings. The genomic era, ushered in by the emergence of new technologies like chromosomal microarray analysis and next-generation sequencing, has transformed prenatal diagnosis. These new tools enable screening and testing for a broad spectrum of genetic conditions, from chromosomal to monogenic disorders, and significantly enhance diagnostic precision and efficacy. This chapter reviews the transition from traditional karyotyping to comprehensive sequencing-based genomic analyses. We discuss both the clinical utility and the challenges of integrating prenatal exome and genome sequencing into prenatal care and underscore the need for ethical frameworks, improved prenatal phenotypic characterization, and global collaboration to further advance the field.
基因组时代之前的产前诊断基因检测主要侧重于使用结合母体因素和影像学检查结果的方法来检测常见的胎儿非整倍体。由染色体微阵列分析和下一代测序等新技术的出现所引领的基因组时代，已经改变了产前诊断。这些新工具能够对从染色体疾病到单基因疾病等广泛的遗传病症进行筛查和检测，并显著提高诊断的准确性和有效性。本章回顾了从传统核型分析到基于测序的全面基因组分析的转变。我们讨论了将产前外显子组和基因组测序整合到产前护理中的临床应用和挑战，并强调了建立伦理框架、改善产前表型特征描述以及开展全球合作以进一步推动该领域发展的必要性。
