title: Diagnosis of sex and cystic fibrosis status in fetal erythroblasts isolated from cord blood.
abstract: Diagnosis of fetal cells in the maternal circulation will obviate the need for invasive sampling procedures. It is essential however, before this can be put into wide clinical practice, that a reliable isolation procedure and a simple, robust means of genotyping rare fetal cells be developed. A relatively inexpensive, sensitive diagnostic procedure which can detect single gene defects and/or aneuploidy is fluorescent PCR. This has been used extensively in molecular diagnostics including preimplantation diagnosis but, to our knowledge, has not been applied widely for the diagnosis of isolated fetal erythroblasts. Here we used cord blood as a model system for fetal cells in the maternal circulation: we isolated erythroblasts on a glass slide, employed a simple micromanipulation technique to place them into a PCR tube and then applied fluorescent PCR to diagnose sex and cystic fibrosis status in 10 patients. Nine samples had a normal cystic fibrosis status, one patient, however, had a mutant allele suggesting that this fetus was a carrier for cystic fibrosis. Fluorescent PCR has virtually limitless potential in the genotyping of rare fetal cells isolated from the maternal circulation.
authors.affiliation: Department of Pathology, University of Cambridge, UK.
authors.forename: D K
authors.initials: DK
authors.lastname: Griffin
authors.forename: M A
authors.initials: MA
authors.lastname: Ferguson-Smith
mesh_terms: D003550:Cystic Fibrosis / Q000097:blood / Q000175:diagnosis* / Q000196:embryology; D004900:Erythroblasts; D005260:Female; D005312:Fetal Blood / Q000166:cytology*; D005315:Fetal Diseases / Q000097:blood / Q000175:diagnosis* / Q000196:embryology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D016133:Polymerase Chain Reaction / Q000379:methods; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012732:Sex Determination Analysis / Q000379:methods