[Noninvasive prenatal diagnosis of single gene disorders through cell-free fetal DNA in maternal blood].
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.
Guo
Qi-wei
QW
Molecular Diagnostic Laboratory, Center for Prenatal Diagnosis, Maternal and Children's Health Hospital of Xiamen, Xiamen, Fujian, 361003 P.R. China.
Zhou
Yu-lin
YL
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*
D004247:DNA