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

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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