Identification of nucleated red blood cells in maternal circulation: a second step in screening for fetal aneuploidies and pregnancy complications.
BACKGROUND
Identification of fetal nucleated red blood cells (NRBCs) in maternal circulation can facilitate non-invasive prenatal diagnosis, but technical difficulties still exist. An increase in the number of circulating NRBCs, however, could indicate fetal aneuploidies or pregnancy complications.


METHODS
The number of NRBCs was determined from 20 mL peripheral blood in 351 women in the second trimester of pregnancy after isolation by magnetic cell sorting (MACS) with anti-CD71 antibody and identification with May-Grunwald/Giemsa staining.


RESULTS
An average of eight NRBCs (range 1-12) were identified among 282 women with chromosomally normal fetuses. In cases known to carry aneuploid fetuses the mean number was 35 (range 7-113), but when the fetus had trisomy 21 (n = 17) an average of 71 NRBCs were identified. Among 26 carriers of beta-thalassemia, 42 NRBCs (range 22-158) were isolated. In pregnancies with abnormal Doppler findings in both uterine arteries (n = 20), 15 NRBCs (range 2-75) were isolated.


CONCLUSIONS
Determining the number of NRBCs in maternal circulation could represent an additional screening step for fetal aneuploidies, as long as the anemic status of the mother is taken into consideration. However, more cases with abnormal Doppler results must be investigated before this test is used for in the prediction of pregnancy complications.
Mavrou
A
A
Medical Genetics, Athens University School of Medicine, Athens, Greece. ariamav@hol.gr
Kouvidi
E
E
Antsaklis
A
A
Souka
A
A
Kitsiou Tzeli
S
S
Kolialexi
A
A
D000328:Adult; D000782:Aneuploidy; D004247:DNA / Q000097:blood; D004900:Erythroblasts / Q000166:cytology*; D005260:Female; D005312:Fetal Blood / Q000166:cytology; D005315:Fetal Diseases / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D005331:Fetomaternal Transfusion / Q000097:blood / Q000175:diagnosis*; D006801:Humans; D018189:Immunomagnetic Separation / Q000379:methods; D007621:Karyotyping; D008403:Mass Screening / Q000379:methods; D008431:Maternal-Fetal Exchange; D011247:Pregnancy / Q000097:blood; D011250:Pregnancy Complications, Hematologic; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis / Q000379:methods*; D012016:Reference Values
D004247:DNA