tailieunhanh - báo cáo khoa học: " Prenatal diagnosis of fetal aneuploidies: post‑genomic developments"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Prenatal diagnosis of fetal aneuploidies: post‑genomic developments | Hahn et al. Genome Medicine 2010 2 50 http content 2 8 50 w Genome Medicine REVIEW L_ Prenatal diagnosis of fetal aneuploidies post-genomic developments Sinuhe Hahn1 Laird G Jackson2 and Bernhard G Zimmermann3 Abstract 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. Analysis of fetal material gained by invasive procedures The current gold standard for prenatal diagnosis for fetal aneuploidy is a full karyotype obtained from the culture of amniocytes or chorionic villus cells which are obtained by invasive procedures such as amniocentesis or chorionic villus sampling CVS 1-3 . It is unclear however how long this practice will remain standard operating procedure because the classical karyotype yields a limited amount of information by today s standards and because the lengthy culture period of typically 10 to 14 days is no longer acceptable in our high-speed society 1 2 . The most frequent severe chromosomal anomaly in live births is trisomy 21 Down syndrome and trisomies 13 Correspondence shahn@ department of Biomedicine University Women s Hospital University Clinics Basel Hebelstrasse 20 CH-4031 .