prenatal diagnosis of fetal aneuploidies post-genomic developments产前诊断胎儿非整倍性后基因的发展.pdfVIP

Hahn et al. Genome Medicine 2010, 2:50 /content/2/8/50 R E V I E W Prenatal diagnosis of fetal aneuploidies: post-genomic developments 1 2 3 Sinuhe Hahn *, Laird G Jackson and Bernhard G Zimmermann and 18 are associated with intra-uterine lethality. Abstract Strategies have evolved to detect the most common Prenatal diagnosis of fetal aneuploidies and anomalies rapidly following an invasive procedure. ese chromosomal anomalies is likely to undergo a include direct preparations of uncultured chorionic villus profound change in the near future. On the one hand cells, multi-color fluorescent in situ hybridization (FISH) this is mediated by new technical developments, such [4,5], quantitative fluorescent PCR (qf-PCR) [6,7], real- as chromosomal microarrays, which allow a much time quantitative PCR [8], PCR coupled with mass more precise delineation of minute sub-microscopic spectrometry [9], multiplex ligation-dependent probe chromosomal aberrancies than the classical G-band amplification, and most recently digital PCR [10,11]. karyotype. This will be of particular interest when Usually the FISH- or PCR-based tests offer information investigating pregnancies at risk of unexplained concerning the ploidy of chromosomes 13, 18, 21, X and development delay, intellectual disability or certain Y, as these analyses should in theory cover about two-