Medizinische Universität Graz - Research portal

Go directly to the nagivation.
Go directly to the content.

Navigation/Search

Selected Publication:

Samura, O; Sohda, S; Johnson, KL; Pertl, B; Ralston, S; Delli-Bovi, LC; Bianchi, DW.
Diagnosis of trisomy 21 in fetal nucleated erythrocytes from maternal blood by use of short tandem repeat sequences.
Clin Chem. 2001; 47(9):1622-1626 Doi: 10.1093/clinchem/47.9.1622 [OPEN ACCESS]
Web of Science PubMed FullText FullText_MUG

Co-authors Med Uni Graz: Pertl Barbara
Altmetrics:
Dimensions Citations:
Plum Analytics:
Scite (citation analytics):
Abstract:: BACKGROUND: The purpose of this study was to determine whether aneuploid fetal nucleated erythrocytes (NRBCs) could be detected in maternal blood through the use of fluorescent PCR amplification with polymorphic short tandem repeat (STR) markers as an alternative or complementary method to analysis by fluorescent in situ hybridization (FISH). METHODS: Peripheral blood samples were obtained from women who had just undergone termination of pregnancy because of fetal trisomy 21 (three cases, 47,XY,+21; four cases, 47,XX,+21). Candidate fetal cells were isolated by flow-sorting by antibodies to the gamma chain of fetal hemoglobin and Hoechst 33342. FISH analysis was performed by the use of chromosome-specific probes for X, Y, and 21. Fetal NRBCs, as defined by the presence of gamma staining, characteristic morphology, and three chromosome 21 signals, along with maternal leukocytes, defined as gamma negative and two chromosome 21 signals, were micromanipulated separately and subjected to fluorescent PCR amplification of chromosome 21 STR markers (D21S11, D21S1411, and/or D21S1412). RESULTS: In five of seven cases analyzed, fetal NRBCs were aneuploid, as determined by the presence of triallelic or diallelic peaks of chromosome 21 sequences when compared with sequences from the maternal leukocytes. CONCLUSIONS: Fluorescent PCR amplification of STRs can detect fetal aneuploidy and may be useful in the setting of poor hybridization efficiency with FISH analysis. These results suggest that combined fetal aneuploidy and single-gene diagnoses by the use of DNA microarrays may be feasible in the near future.
Find related publications in this database (using NLM MeSH Indexing): Aneuploidy -; Down Syndrome - diagnosis; Erythroblasts - chemistry; Female - chemistry; Fetal Blood - cytology; Humans - cytology; Microsatellite Repeats - cytology; Polymerase Chain Reaction - cytology; Spectrometry, Fluorescence - cytology