Abstract

New Advances in Non-Invasive Prenatal Testing- From Research and Clinical View

Fang Chen, Scientist & Project Leader, BGI-Shenzhen

Nowadays maternal plasma DNA sequencing-based Non-invasive prenatal testing (NIPT) has been widely used in early detection of fetal aneuploidies all over the world. This new technology brings revolutionary progress to combine new genetic molecular techniques with real clinical setting and push forward the quick transfer from basic research to clinical use. Feasibility studies have been reported that other NIPT related applications, such as monogenetic diseases, sex-linked disorders, ABO and RhD blood typing, are promising to expand into clinical practice in the very near future. Several research studies reported another maternal blood testing, which relies on the isolation of fetal cells and genetic testing, allow comprehensive interpretation of fetal developmental anomalies at early gestational age and may provide clues for possible intervention and treatment in late pregnancy and neonatal period. Also other materials, such as urine, saliva and stool, have been under investigation in research level to explore the applicability of stability in real clinical setting. All these new advances in NIPT will contribute to applications with less invasive risk, simpler sampling process and multipurpose testing in the future.