Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Semin Fetal Neonatal Med. 2011 Apr;16(2):81-7. doi: 10.1016/j.siny.2011.01.003.
Improvements in non-invasive screening methods for trisomy 21 (Down syndrome) and other aneuploidies during the first and second trimester of pregnancy have radically changed the indications for prenatal diagnosis over the last decade. Consequently, there was a need for rapid tests for the detection of common chromosome aneuploidies resulting in the development of molecular methods for the rapid, targeted detection of (an)euploidies of the chromosomes 13, 18, 21 and the sex chromosomes. The analysis of large series of prenatal samples has shown that such tests can detect the great majority of chromosome abnormalities in prenatal diagnosis. This resulted in lively discussions on whether conventional karyotyping should remain the standard method for the majority of prenatal cases or can be replaced by rapid tests only. This review gives an overview of different aspects of the three most common tests for rapid, targeted prenatal detection of (an)euploidies, i.e. interphase fluorescence in-situ hybridisation (iFISH), quantitative fluorescent polymerase chain reaction (QF-PCR) and multiplex ligation-dependent probe amplification (MLPA).
在过去的十年中，针对 21 三体（唐氏综合征）和其他非整倍体的非侵入性筛查方法的改进，极大地改变了产前诊断的适应证。因此，需要快速检测常见的染色体非整倍体，从而开发了分子方法来快速、有针对性地检测 13、18、21 号染色体和性染色体的（非）整倍体。对大量产前样本的分析表明，这些检测可以在产前诊断中检测到绝大多数染色体异常。这引发了关于传统核型分析是否应该仍然是大多数产前病例的标准方法，或者是否可以仅被快速检测所取代的激烈讨论。这篇综述概述了三种最常见的快速、有针对性的产前检测（非）整倍体的方法，即间期荧光原位杂交（iFISH）、实时荧光定量聚合酶链反应（QF-PCR）和多重连接依赖性探针扩增（MLPA）的不同方面。
