Foetal Nuclear Red Blood Cells Circulating in
Peripheral Blood of Pregnant Women as an Alternative
Source for Determination of the Sex of the Foetus
Hromadíková I., Karamanov S. 3 , Mrštinová M. 1 , Štechová K., Kofer J. 3 ,
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, DrSc. 3 Oddělení lékařské genetiky, Masarykova nemocnice, Ústí nad Labem, primář MUDr. J. Kofer |
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Summary:
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 using
double MACS procedure. NRBCs were enriched by magnetic activated cell sorting using anti-
CD71 (transferrin receptor) monoclonal antibodies. Unwanted leukocytes were depleted using
monoclonal antibodies against CD14 and CD45. The sex of the foetus was analysed by using
dual-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 villus
sampling.
Results: In 15 out of 17 male foetuses we could identify one X and one Y signal. In another 15
pregnant women carrying female foetuses two X signals were observed.
Conclusion: NRBC circulating in blood of pregnant women can be used as an alternative source
for determination of the sex of the foetus with a risk of false negative results (2/17, 12 %). The
problem 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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