title: Genetic analysis of fetal nucleated red blood cells from CVS washings.
abstract: Chorionic villus sampling (CVS) is an established invasive prenatal diagnostic method for the detection of fetal chromosome aberrations. In 1-2% the karyotype result of CVS is inconclusive and follow-up confirmation will be required. To avoid another invasive procedure we examined fetal nucleated red blood cells (NRBCs) from CVS washings for genetic analysis. We analysed the washings of 20 chorionic villi samples of male fetuses. Fetal NRBCs were immunostained by an antibody against embryonic haemoglobin (HbE). FISH was performed with probes specific for the X and Y chromosome and the nucleus was counterstained with DAPI. Cells positive for the antibody, as well as for DAPI, were collected and stored by a semi-automated microscope. An operator reviewed those cells for their FISH signals. In 19 out of 20 CVS washings we found nucleated cells positive for HbE together with XY FISH signals. In none of the washings HbE positive cells with two X signals were found. Our results indicate that anti-HbE is a very specific antibody for identifying fetal NRBCs. NRBCs from CVS washings can be used as an additional fetal tissue for first trimester prenatal diagnosis.
authors.affiliation: Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands.
authors.forename: M E
authors.initials: ME
authors.lastname: Jakobs
authors.forename: J M
authors.initials: JM
authors.lastname: van Lith
authors.forename: I M
authors.initials: IM
authors.lastname: de Graaf
authors.forename: A C
authors.initials: AC
authors.lastname: Knegt
authors.forename: J M
authors.initials: JM
authors.lastname: Hoovers
mesh_terms: D000906:Antibodies / Q000097:blood; D015193:Chorionic Villi Sampling / Q000592:standards*; D002869:Chromosome Aberrations / Q000097:blood / Q000175:diagnosis*; D025063:Chromosome Disorders; D004900:Erythroblasts / Q000166:cytology*; D005260:Female; D005312:Fetal Blood / Q000166:cytology; D005315:Fetal Diseases / Q000097:blood / Q000175:diagnosis*; D005319:Fetal Hemoglobin / Q000276:immunology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D011237:Predictive Value of Tests; D011247:Pregnancy; D012016:Reference Values
chemical_list: D000906:Antibodies; D005319:Fetal Hemoglobin