Clinical applications of maternal plasma fetal DNA analysis: translating the fruits of 15 years of research

摘要: The collection of fetal genetic materials is required for the prenatal diagnosis diseases. conventional methods sampling materials, such as amniocentesis and chorionic villus sampling, are invasive in nature associated with a risk miscarriage. For decades, scientists had been pursuing studies goals to develop non-invasive diagnosis. In 1997, existence derived cell-free DNA molecules plasma pregnant women was first demonstrated. This finding provided new source material that could be obtained safely through maternal blood sample avenue development diagnostic tests. Now 15 years later, potential circulating analysis has realized. Fruitful research efforts have resulted clinical implementation number tests based on included sex assessment, rhesus D group genotyping chromosomal aneuploidy detection. Most recently, groups succeeded decoding entire genome from which paved way achievement many single gene A paradigm shift practice begun.