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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Abstract
In this study, we assessed the feasibility of fetal
RhD genotyping by analysis of cell-free fetal
DNA(cffDNA) extracted from plasma samples of
Rhesus (Rh) D-negative pregnant women by using
real-time polymerase chain reaction (PCR). Fetal
genotyping was performed on 30 RhD-negative
women between 9 and 39 weeks of gestation who
were referred to us for invasive testing [amniocentesis/
chorionic villi sampling (CVS)]. The fetal RHD
genotype was determined based on real-time PCR
method. Exons 7 and 10 of the RHD and SRY genes
were targeted.
Among the pregnant women, 12 were carrying
male and 17 were carrying female fetuses. Out
of 29 pregnant women, 21 had RhD-positive and
nine had RhD-negative fetuses. One sample )case
12, whose blood group was found to be AB Rh [+]
(was excluded due to controversial results from repeated
serological analyses. All prenatal results were
in concordance with postnatal RhD status and fetal
sex without false- positive or -negative results. Performing
real-time PCR on cffDNA showed accurate,
efficient and reliable results, allowing rapid and high
throughput non invasive determination of fetal sex
and RhD status in clinical samples.
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