Detecting fetal DNA from dried maternal blood spots: Another step towards broad scale non-invasive prenatal genetic screening and feasible testing

Farideh Z. Bischoff, Dianne X. Dang, Deborah Marquez-Do, Denisse Martinez, Cassandra Horne, Dorothy E. Lewis, Joe Leigh Simpson

Research output: Contribution to journalArticle

14 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)349-351
Number of pages3
JournalReproductive BioMedicine Online
Volume6
Issue number3
DOIs
StatePublished - 2003

Keywords

  • Cell-free fetal DNA
  • Dried blood spots
  • Non-invasive prenatal diagnosis
  • Real-time PCR

ASJC Scopus subject areas

  • Reproductive Medicine
  • Obstetrics and Gynecology
  • Developmental Biology

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