title: Prenatal diagnosis of trisomy 13 on fetal cells obtained from maternal blood after minor enrichment.
abstract: In a pilot study to establish fetal nucleated red blood cell (NRBC) detection in maternal blood, trisomy 13 was diagnosed by FISH analysis at 11 weeks' gestation. The NRBCs were detected after a single-step ficoll density gradient enrichment. In blood samples taken both before and after CVS, 52 and 80 NRBCs, respectively, were found to be positive for fetal haemoglobin. In 47 per cent of these cells, FISH analysis for X and Y chromosomes confirmed the fetal sex. Moreover, 48 per cent of these NRBCs showed three fluorescent signals for a chromosome 13 probe, which confirmed the diagnosis of trisomy 13, previously detected at CVS karyotyping. This is the first report of non-invasive prenatal diagnosis of trisomy 13, i.e., pre-CVS, in the first trimester. The high number of fetal NRBCs detected indicates a connection with aneuploidy, probably due to early impairment of the feto-maternal barrier.
authors.affiliation: Department of Cytochemistry and Cytometry, Leiden University Medical Centre, The Netherlands. J.C.Oosterwijk@med.rug.nl
authors.forename: J C
authors.initials: JC
authors.lastname: Oosterwijk
authors.forename: W E
authors.initials: WE
authors.lastname: Mesker
authors.forename: M C
authors.initials: MC
authors.lastname: Ouwerkerk-Van Velzen
authors.forename: C F
authors.initials: CF
authors.lastname: Knepflé
authors.forename: K C
authors.initials: KC
authors.lastname: Wiesmeijer
authors.forename: G C
authors.initials: GC
authors.lastname: Beverstock
authors.forename: G J
authors.initials: GJ
authors.lastname: Van Ommen
authors.forename: H J
authors.initials: HJ
authors.lastname: Tanke
authors.forename: H H
authors.initials: HH
authors.lastname: Kanhai
mesh_terms: D000328:Adult; D002467:Cell Nucleus; D002469:Cell Separation; D002499:Centrifugation, Density Gradient; D015193:Chorionic Villi Sampling; D002882:Chromosomes, Human, Pair 13; D004912:Erythrocytes / Q000648:ultrastructure; D005260:Female; D005312:Fetal Blood / Q000166:cytology*; D005319:Fetal Hemoglobin / Q000032:analysis; D005865:Gestational Age; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014314:Trisomy
chemical_list: D005319:Fetal Hemoglobin