title: Application of fetal DNA in maternal plasma for noninvasive prenatal diagnosis.
abstract: Prenatal diagnosis of fetal genetic conditions is a standard part of modern obstetric care. Many of the current methods rely on invasive methods and are associated with an inherent risk of fetal loss. Consequently, there has been a long-term goal for development of noninvasive prenatal diagnostic methods. In 1997, the presence of fetal DNA in maternal plasma was first discovered through the detection of Y-chromosome-specific sequences in the plasma of women conceived with male fetuses. This discovery has opened up new possibilities in the development of noninvasive prenatal diagnostic methods through a source of fetal genetic material that could be conveniently accessible simply through the collection of a maternal peripheral blood sample. To date, there have been numerous reported applications, including fetal RhD genotyping, prenatal diagnosis of sex-linked disorders, paternally inherited genetic diseases and some pregnancy-associated conditions, including preeclampsia. More recently, there have been significant new developments with expanding number of potential applications.
authors.affiliation: Department of Chemical Pathology, Chinese University of Hong Kong, Prince of Wales Hospital, Room 38023, I/F Clinical Sciences Bulding, 30-32 Ngan Shing Street, Shatin, New Territories, Hong Kong SAE, China.
authors.forename: Rossa W K
authors.initials: RW
authors.lastname: Chiu
authors.forename: Y M Dennis
authors.initials: YM
authors.lastname: Lo
mesh_terms: D004247:DNA / Q000097:blood*; D005260:Female; D005333:Fetus; D030342:Genetic Diseases, Inborn / Q000175:diagnosis; D005838:Genotype; D006801:Humans; D008297:Male; D008431:Maternal-Fetal Exchange; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
chemical_list: D004247:DNA