Non-Invasive Prenatal Testing Using Cell Free DNA in Maternal Plasma: Recent Developments and Future Prospects.

摘要: Recent advances in molecular genetic technologies have facilitated non-invasive prenatal testing (NIPT) through the analysis of cell-free fetal DNA maternal plasma. NIPT can be used to identify monogenic disorders including identification autosomal recessive where maternally inherited mutation needs identified presence an excess that contains same mutation. In future, simultaneous screening for multiple is anticipated. Several methods been developed screen trisomy. These shown effective trisomy 21, 18 and 13. Although has extended sex chromosome aneuploidy, robust estimates efficacy are not yet available mosaicism gain or loss X-chromosome considered. Using based on single nucleotide polymorphisms, diandric triploidy identified. being a number microdeletion syndromes α-globin gene deletion. profoundly important development care substantially advancing individual patient public health benefits achieved conventional diagnosis.