title: A Forward Look At Noninvasive Prenatal Testing.
abstract: 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.
authors.affiliation: Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China. Electronic address: liliuxia@hotmail.com.
authors.forename: Li
authors.initials: L
authors.lastname: Liu
authors.affiliation: Molecular Medicine Research Center, West China Hospital, Sichuan University, Sichuan 610041, China; Guangzhou Elite Health Biological Pharmaceutical Technology Company Ltd., Guangzhou 510005, China.
authors.forename: Kang
authors.initials: K
authors.lastname: Li
authors.affiliation: Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China; Institute for Genomic Medicine and Shiley Eye Institute, University of California San Diego, La Jolla, CA 92328, USA.
authors.forename: Xin
authors.initials: X
authors.lastname: Fu
authors.affiliation: Institute for Genomic Medicine and Shiley Eye Institute, University of California San Diego, La Jolla, CA 92328, USA.
authors.forename: Christopher
authors.initials: C
authors.lastname: Chung
authors.affiliation: Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou 510623, China; Institute for Genomic Medicine and Shiley Eye Institute, University of California San Diego, La Jolla, CA 92328, USA. Electronic address: kang.zhang@gmail.com.
authors.forename: Kang
authors.initials: K
authors.lastname: Zhang
mesh_terms: D000483:Alleles; D000782:Aneuploidy; D000818:Animals; D002869:Chromosome Aberrations; D004247:DNA / Q000097:blood* / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods*; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D005838:Genotype; D006801:Humans; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
chemical_list: D004247:DNA
keywords: allele; aneuploidy; cfDNA; monogenic diseases; subchromosomal