Department of Biomedicine, University Women's Hospital, University Clinics Basel, Hebelstrasse 20, CH-4031, Switzerland.
Genome Med. 2010 Aug 5;2(8):50. doi: 10.1186/gm171.
Prenatal diagnosis of fetal aneuploidies and chromosomal anomalies is likely to undergo a profound change in the near future. On the one hand this is mediated by new technical developments, such as chromosomal microarrays, which allow a much more precise delineation of minute sub-microscopic chromosomal aberrancies than the classical G-band karyotype. This will be of particular interest when investigating pregnancies at risk of unexplained development delay, intellectual disability or certain forms of autism. On the other hand, great strides have been made in the non-invasive determination of fetal genetic traits, largely through the analysis of cell-free fetal nucleic acids. It is hoped that, with the assistance of cutting-edge tools such as digital PCR or next generation sequencing, the long elusive goal of non-invasive prenatal diagnosis for fetal aneuploidies can finally be attained.
产前诊断胎儿非整倍体和染色体异常可能在不久的将来发生深刻变化。一方面，这是由新技术的发展所介导的，例如染色体微阵列，它可以比经典的 G 带核型更精确地描绘微小的亚微观染色体异常。当研究不明原因发育迟缓、智力障碍或某些形式的自闭症风险的妊娠时，这将特别有趣。另一方面，在无创性确定胎儿遗传特征方面已经取得了重大进展，主要是通过分析游离胎儿核酸。人们希望，借助数字 PCR 或下一代测序等尖端工具，无创性产前诊断胎儿非整倍体的长期难以实现的目标最终能够实现。
