Prenatal diagnosis of fetal aneuploidies post-genomic developments 英文参考文献.docVIP

Hahn et al. Genome Medicine 2010,2:50 /content/2/8/50 RE VIE W Prenatal diagnosis of fetal aneuploidies: post-genomic developments Sinuhe Hahn *, Laird G Jackson and Bernhard G Zimmermann 1 2 3 and 18 are associated with intra-uterine lethality. Strategies have evolved to detect the most common anomalies rapidly following an invasive procedure. ese include direct preparations of uncultured chorionic villus cells, multi-color ?uorescent in situ hybridization (FISH) [4,5], quantitative ?uorescent PCR (qf-PCR) [6,7], real- time quantitative PCR [8], PCR coupled with mass spectrometry [9], multiplex ligation-dependent probe ampli ?cation, and most recently digital PCR [10,11]. Usually the FISH- or PCR-based tests o?er information concerning the ploidy of chromosomes 13, 18, 21, X and Y, as these analyses should in theory cover about two- thirds of the chromosomal anomalies that are most commonly found at the time of amniocentesis and about 85% of those found at the time of birth [12]. Both qf-PCR and rapid FISH methods, such as Fast-FISH, enable informative results to be obtained in a matter of hours [4,6], so the expectant couple can be informed if the fetus is a?ected by Down syndrome or not within a very short time-frame, instead of having to wait for almost 2 weeks. e introduction of such services has been so successful that it has been suggested that they replace conventional karyotyping completely, as a cost-saving measure [12]. ese rapid tests, however, provide only a limited amount of information, and large-scale studies conducted in the UK have shown that their sole use may lead to the failure Abstract Prenatal diagnosis of fetal aneuploidies and chromosomal anomalies is likely to undergo a profou