Fetal RHD genotype detection from circulating cell-free fetal DNA in maternal plasma in non-sensitized RhD negative women
Article first published online: 31 MAY 2011
Copyright © 2011 John Wiley & Sons, Ltd.
Volume 31, Issue 8, pages 802–808, August 2011
How to Cite
Bombard, A. T., Akolekar, R., Farkas, D. H., VanAgtmael, A. L., Aquino, F., Oeth, P. and Nicolaides, K. H. (2011), Fetal RHD genotype detection from circulating cell-free fetal DNA in maternal plasma in non-sensitized RhD negative women. Prenat. Diagn., 31: 802–808. doi: 10.1002/pd.2770
- Issue published online: 20 JUL 2011
- Article first published online: 31 MAY 2011
- Manuscript Accepted: 28 MAR 2011
- Manuscript Revised: 24 MAR 2011
- Manuscript Received: 7 DEC 2010
- The Fetal Medicine Foundation. Grant Number: 1037116
- fetal RHD determination;
- cell-free fetal DNA;
- Sequenom Center for Molecular Medicine Laboratory Developed Test
To examine the performance of the SensiGene Fetal RHD Genotyping Laboratory Developed Test (RHD Genotyping LDT) using circulating cell-free fetal DNA (ccff DNA) extracted from maternal plasma.
ccff DNA was extracted from maternal blood from non-sensitized women with singleton pregnancies in two cohorts, one with a serotype reference (11–13 weeks' gestation) and one with the reference source (6–30 weeks' gestation). The presence of three RHD exon sequences (exons 4, 5, 7), the psi-pseudogene, three Y-chromosome sequences (SRY, DBY and TTTY2), and the X/Y-chromosome TGIF gene control were determined using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry—the RHD Genotyping LDT.
The cohort with a serotype RhD reference showed correct classification in 201 of 207 patients, a test accuracy of 97.1%, with a sensitivity and specificity for prediction of RhD serotype of 97.2 and 96.8%, respectively. The cohort with a genotype RHD reference showed correct classification in 198 of 199 patients, indicating a test accuracy of 99.5% with a sensitivity and specificity for prediction of RHD genotype of 100.0 and 98.3%, respectively.
Fetal RHD genotyping can accurately be determined using ccff DNA in the first and second trimesters of pregnancy. Copyright © 2011 John Wiley & Sons, Ltd.