Detecting fetal DNA from dried maternal blood spots: another step towards broad scale non-invasive prenatal genetic screening and feasible testing.
Both intact fetal cells and cell-free fetal DNA are present in the maternal circulation and have been used for non-invasive prenatal genetic diagnosis. However, broad clinical application awaits development of robust methods for collecting, transporting and enriching maternal blood samples to recover rare fetal cells. To circumvent this impediment, we have devised a reliable method of fetal DNA detection using dried maternal blood spots and real-time polymerase chain reaction. Fetal Y-specific (DYS1) sequences were detected in all 19 (100%) maternal blood specimens from women carrying male fetuses, in genome equivalents of 4.20-24.68 per ml of blood; the ubiquitous glyceraldehyde 3-phosphate dehydrogenase (GAPDH) gene, reflecting both maternal and fetal DNA, concurrently showed 43,684 to 680,357 genome equivalents per ml of blood. The results demonstrate that fetal DNA detection using dried maternal blood spots is highly feasible and easily adaptable for population screening.
Department of Obstetrics and Gynecology, Baylor College of Medicine, 6550 Fannin Street, Houston, TX 77030, USA. bischoff@bcm.tmc.edu
Farideh Z
FZ
Bischoff
Dianne X
DX
Dang
Deborah
D
Marquez-Do
Denisse
D
Martinez
Cassandra
C
Horne
Dorothy E
DE
Lewis
Joe Leigh
JL
Simpson
D000328:Adult; D001773:Blood Cells; D002474:Cell-Free System; D041322:Chromosomes, Human, Y; D004247:DNA / Q000378:metabolism; D005260:Female; D005312:Fetal Blood; D005315:Fetal Diseases / Q000175:diagnosis; D005820:Genetic Testing / Q000379:methods; D024581:Glyceraldehyde-3-Phosphate Dehydrogenase (Phosphorylating) / Q000097:blood; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012732:Sex Determination Analysis / Q000379:methods*
D004247:DNA; D024581:Glyceraldehyde-3-Phosphate Dehydrogenase (Phosphorylating)