DETERMINATION OF FETAL RHESUS D STATUS
BY MATERNAL PLASMA DNA ANALYSIS Aykut A1,*, Onay H1, Sagol S2, Gunduz C3, Ozkinay F1, Cogulu O1 *Corresponding Author: Ayça Aykut, M.D., Ph.D., Department of Medical Genetics, Ege University Faculty
of Medicine, 35100, Bornova, Izmir, Turkey; Tel.: +90-232-390-3961; Fax: +90-232-390-3971; E-mail:
aycaaykut@hotmail.com page: 33
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RESULTS
Non invasive fetal RHD genotyping using cffDNA
in maternal plasma was performed in 30 pregnancies.
The median gestational age at the time of
blood sampling was 25.4 weeks (range 9-39 weeks). Serological tests on the infant’s red blood cells
(RBCs) were performed, and fetal gender was confirmed
after delivery. One sample (case 12, whose
blood group was found to be AB Rh [+]) was excluded
because of controversial results from repeated
serological analyses. Among 29 plasma samples,
one was in her first trimester, 15 were in the second
trimester and 13 were in the third trimester.
When compared to postpartum serological results,
an accuracy rate of 100.0% was achieved in our
prenatal prediction of fetal RhD status and gender
determination from the maternal plasma. No falsenegative
or false-positive results were obtained.
Out of 29 cases, 21 were RhD [+] and eight were
RhD [–]. The results are summarized in Table 2. Out
of all cases, 12 were male and 17 were female. Nine
out of 12 male cases had an SRY-positive PCR amplification
in each of the three separate reactions. Of
the remaining three male cases, two had SRY-positive
amplifications in three separate reactions. Two
male fetuses had chromosomal aneuploidies at amniocentesis
(47,XXY and 47,XY,+21, respectively).
The SRY amplifications were all negative in
three separate reactions in 17 female fetuses. The
presence of fetal DNA in 17 female fetuses was
shown by establishing a PCR reaction specific for
the human FOXP1 DNA sequence. Sex detection of
the fetus according to the SRY amplification from
maternal plasma showed 100.0% sensitivity. The
earliest gestational week for sex identification was
9 weeks in this study. The fetal RhD status was correctly
confirmed by amniocentesis or CVS in 29 of
29 cases with the diagnostic accuracy of 100.0%.
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