Ganesh Irisappan, Karthiga Ilangovan, Murugan Manoranjani, Rangarajalu Kumar, Ballambattu Vishnu Bhat, Ravikumar Sambandam
Department of Medical Biotechnology, Aarupadai Veedu Medical College & Hospital, Vinayaka Mission's Research Foundation (Deemed to be University), Puducherry 607402, India.
Department of Biochemistry, Aarupadai Veedu Medical College & Hospital, Vinayaka Mission's Research Foundation (Deemed to be University), Puducherry 607402, India.
Medicina (Kaunas). 2025 Mar 27;61(4):610. doi: 10.3390/medicina61040610.
Aneuploidy is increasingly recognized globally as a common cause of miscarriage among expectant mothers. The existing prenatal screening techniques for detecting aneuploidy have several limitations. The ability to diagnose aneuploidy early in a non-invasive manner is not feasible with the current screening methods, as they may produce false positive or false negative results. Recently, the widely used gene editing tool CRISPR/Cas has shown great promise in diagnostics. This review summarizes the prenatal screening tests used in the first trimester to assess aneuploidy conditions. Additionally, we discuss the advantages and disadvantages of molecular diagnostic tests, including the benefits and challenges of CRISPR/Cas-based trisomy detection. Thus, the proposed prenatal screening using CRISPR/Cas could provide significant benefits to expectant mothers by potentially enabling the early diagnosis of trisomy, helping to prevent miscarriage and birth defects. Furthermore, it opens new avenues for research, allowing clinicians and researchers to develop, optimize, and implement CRISPR/Cas-based prenatal screening assays in the future.
非整倍体在全球范围内日益被公认为是孕妇流产的常见原因。现有的用于检测非整倍体的产前筛查技术存在若干局限性。目前的筛查方法无法以非侵入性方式在早期诊断非整倍体，因为它们可能产生假阳性或假阴性结果。最近，广泛使用的基因编辑工具CRISPR/Cas在诊断方面显示出巨大潜力。本综述总结了孕早期用于评估非整倍体情况的产前筛查测试。此外，我们讨论了分子诊断测试的优缺点，包括基于CRISPR/Cas的三体检测的益处和挑战。因此，所提议的使用CRISPR/Cas的产前筛查可能通过潜在地实现三体的早期诊断为孕妇带来显著益处，有助于预防流产和出生缺陷。此外，它为研究开辟了新途径，使临床医生和研究人员能够在未来开发、优化和实施基于CRISPR/Cas的产前筛查检测方法。
