Genomic abnormalities are a leading cause of birth defects and pregnancy complications, including in utero growth retardation and risk of miscarriage. Traditional invasive methods detecting such genomic abnormalities pose a relative risk to mother and unborn fetus. Non-invasive prenatal testing (NIPT) is a method that determines the genomic status of a fetus in utero by analyzing circulating fetal DNA in maternal plasma or serum. This review comes at a time when more and more physicians and hospitals might be using NIPT; there is great potential in extending this technology to other diagnostic applications. We discuss here the most current advances in diagnostic NIPT, its applications and limitations, as well as the development of future technology and possible clinical applications.
Keywords: allele; aneuploidy; cfDNA; monogenic diseases; subchromosomal.
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