A liquid biopsy, also known as fluid biopsy or fluid phase biopsy, is the sampling and analysis of non-solid biological tissue, primarily blood. Like traditional biopsy this type of technique is mainly used as a diagnostic and monitoring tool for diseases such as cancer, with the added benefit of being largely non-invasive. Therefore, it can also be done more frequently which can better track tumors and mutations over a duration of time. It may also be used to validate the efficiency of a cancer treatment drug by taking multiple liquid biopsy samples in the span of a few weeks. The technology may also prove beneficial for patients after treatment to monitor relapse.
There are several types of liquid biopsy depending on the condition that is being studied.
- In cancer studies, circulating tumor cells (CTCs) and/or cell-free tumour DNA (ctDNA) are collected.
- In heart attack diagnosis, circulating endothelial cells (CECs) are sampled.
- In prenatal diagnosis, cell-free fetal DNA (cffDNA) is extracted from maternal blood. Amniotic fluid can also be extracted and analysed.
NIPT is a prenatal congenital anomaly test to check chromosomes by isolating fetal DNA from the mother’s blood. Since it is a safer method than previous examinations using amniocentesis, pregnant women are starting to turn their attention to blood fetus congenital anomaly test with safety and accuracy in recent years.
NIPT is fundamentally a genome analysis on NGS platform. There are Shotgun MPS method that analyzes all cell-free DNA bases collected from maternal blood and Targeted MPS method in which only desired chromosom part is obtained from Amplicon in cell-free DNA for the analysis.
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