North East Thames Regional Genetics Laboratory, Great Ormond Street NHS Foundation Trust, London, UK.
North East Thames Regional Genetics Laboratory, Great Ormond Street NHS Foundation Trust, London, UK; UCL Great Ormond Street Institute of Child Health, London, UK.
Semin Fetal Neonatal Med. 2018 Apr;23(2):94-101. doi: 10.1016/j.siny.2017.12.002. Epub 2018 Jan 2.
Emerging genomic technologies, largely based around next generation sequencing (NGS), are offering new promise for safer prenatal genetic diagnosis. These innovative approaches will improve screening for fetal aneuploidy, allow definitive non-invasive prenatal diagnosis (NIPD) of single gene disorders at an early gestational stage without the need for invasive testing, and improve our ability to detect monogenic disorders as the aetiology of fetal abnormalities. This presents clinicians and scientists with novel challenges as well as opportunities. In addition, the transformation of prenatal genetic testing arising from the introduction of whole genome, exome and targeted NGS produces unprecedented volumes of data requiring complex analysis and interpretation. Now translating these technologies to the clinic has become the goal of clinical genomics, transforming modern healthcare and personalized medicine. The achievement of this goal requires the most progressive technological tools for rapid high-throughput data generation at an affordable cost. Furthermore, as larger proportions of patients with genetic disease are identified we must be ready to offer appropriate genetic counselling to families and potential parents. In addition, the identification of novel treatment targets will continue to be explored, which is likely to introduce ethical considerations, particularly if genome editing techniques are included in these targeted treatments and transferred into mainstream personalized healthcare. Here we review the impact of NGS technology to analyse cell-free DNA (cfDNA) in maternal plasma to deliver NIPD for monogenic disorders and allow more comprehensive investigation of the abnormal fetus through the use of exome sequencing.
新兴的基因组技术主要基于下一代测序（NGS），为更安全的产前基因诊断带来了新的希望。这些创新方法将改善胎儿非整倍体的筛查，允许在早期妊娠阶段无需侵入性测试即可明确进行单基因疾病的无创性产前诊断（NIPD），并提高我们检测胎儿异常病因中单基因疾病的能力。这为临床医生和科学家带来了新的挑战和机遇。此外，由于全基因组、外显子组和靶向 NGS 的引入，产前基因检测的转变产生了前所未有的大量数据，需要进行复杂的分析和解释。现在，将这些技术转化为临床应用已成为临床基因组学的目标，正在改变现代医疗保健和个性化医疗。实现这一目标需要最先进的技术工具，以便以可承受的成本快速进行高通量数据生成。此外，随着越来越多的遗传疾病患者被识别出来，我们必须准备好为家庭和潜在父母提供适当的遗传咨询。此外，还将继续探索新的治疗靶点，这可能会引发伦理问题，特别是如果将基因组编辑技术纳入这些靶向治疗并应用于主流个性化医疗保健。在这里，我们综述了 NGS 技术分析母体血浆中游离 DNA（cfDNA）以实现单基因疾病的 NIPD 并通过外显子组测序更全面地研究异常胎儿的影响。
