Non-invasive prenatal diagnosis of single gene disorders: how close are we?

摘要: Analysis of cell free fetal DNA (cffDNA) in maternal plasma provides the opportunity for reliable, timely, safe and cost-effective diagnosis single gene disorders. The detection certain loci using cffDNA conventional molecular analytic approaches is possible from 4 weeks gestation. To date, non-invasive first-trimester analysis disorders has been limited by assay sensitivity specificity, due to background DNA. anticipated ability enrich component will increase robustness tests permit semi-quantitative analysis, broadening scope testing include recessive such as cystic fibrosis. Testing large-scale mutations might remain fragmented nature and, when very early gestation, careful ultrasound examination be needed determine number gestational sacs, because risk discordant twin pregnancies.