title: [Noninvasive prenatal diagnosis of single gene disorders through cell-free fetal DNA in maternal blood].
abstract: The discovery of cell-free fetal DNA (cff-DNA) in maternal plasma offered a new way to noninvasive prenatal diagnosis for single gene disorders. In the past decade, many techniques such as real-time PCR, pyrophosphorolysis-activated polymerization, mass spectrum and digital PCR have been developed for noninvasive prenatal diagnosis. In this review, the author discuss the principles, applications, advantages and disadvantages of these techniques.
authors.affiliation: Molecular Diagnostic Laboratory, Center for Prenatal Diagnosis, Maternal and Children's Health Hospital of Xiamen, Xiamen, Fujian, 361003 P.R. China.
authors.forename: Qi-wei
authors.initials: QW
authors.lastname: Guo
authors.forename: Yu-lin
authors.initials: YL
authors.lastname: Zhou
mesh_terms: D004247:DNA / Q000097:blood / Q000235:genetics*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics*; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008431:Maternal-Fetal Exchange; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
chemical_list: D004247:DNA