Authors: I. Hromadíková; S. Karamanov 3; M. Mrštinová 1; K. Štechová; J. Kofer 3 Authors‘ workplace: II. dětská klinika 2. LF UK FN Motol, Praha, přednosta doc. MUDr. J. Vavřinec, CSc. 1 Gynek. -porod. klinika 1. LF UK, FN Motol, Praha, přednosta prof. MUDr. J. Hořejší, DrSc. 2 Oddělení lékařské genetiky, FN Motol, Praha, primář prof. MUDr. P. Goetz, DrS Published in: Ceska Gynekol 2000; (4): 219-223 Category:
Objective: Determination of the sex of the foetus from enriched nuclear red blood cells (NRBC)circulating in maternal blood during pregnancy.Methods: NRBC were enriched from 13 - 28 ml peripheral blood of 32 pregnant women usingdouble MACS procedure. NRBCs were enriched by magnetic activated cell sorting using anti-CD71 (transferrin receptor) monoclonal antibodies. Unwanted leukocytes were depleted usingmonoclonal antibodies against CD14 and CD45. The sex of the foetus was analysed by usingdual-colour FISH with X and Y specific probes. The experimental results obtained from the non-invasive procedure were compared to karyotype obtained from amniocentesis or chorionic villussampling.Results: In 15 out of 17 male foetuses we could identify one X and one Y signal. In another 15pregnant women carrying female foetuses two X signals were observed.Conclusion: NRBC circulating in blood of pregnant women can be used as an alternative sourcefor determination of the sex of the foetus with a risk of false negative results (2/17, 12 %). Theproblem of false negative results can be solved by using more sophisticated methods of enrich-ment and preparedness of the slides for FISH analysis.
Key words: NRBC, MACS, prenatal diagnosis, foetal cells, FISH
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