Noninvasive fetal RhD status determination in early pregnancy

Fetal Diagnosis and Therapy
Sebastian ManzanaresJosé Luis Gallo

Abstract

The aim of this study was to examine if noninvasive fetal RhD genotyping from maternal blood cell-free fetal DNA performed in the first trimester of pregnancy is accurate enough to propose its routine application to replace usual immunoprophylaxis. We carried out a prospective study analyzing fetal RhD genotype in 149 nonimmunized RhD-negative women with single pregnancies between 8 and 13 weeks of gestation. Fetal RhD genotype was detected by quantitative PCR targeting exons 5 and 7. The results were compared with postnatal cord blood phenotype, and discrepancy rates were calculated. The concordance of fetal RhD genotypes in maternal plasma and newborn D phenotypes at delivery was 98.2%, including 1 false-positive and 1 false-negative result. The specificity and sensitivity of the assay were 97.5% (95% CI 87.1-99.9) and 98.6% (95% CI 92.7-99.9), respectively, and 6.5% of the results were inconclusive. The application of this test in early pregnancy would avoid unnecessary antenatal prophylaxis in about 27% (40/143) of nonsensitized RhD-negative women. Determination of the fetal RhD status from cell-free fetal DNA in maternal plasma in the first trimester of pregnancy is feasible and highly accurate, thus allowing consideration...Continue Reading

Citations

Nov 8, 2014·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·L TeitelbaumJ M Johnson
Apr 5, 2018·Expert Review of Molecular Diagnostics·Frederik Banch Clausen
Mar 13, 2019·Acta Obstetricia Et Gynecologica Scandinavica·Mia P S JensenFinn S Jørgensen
Nov 24, 2020·Transfusion clinique et biologique : journal de la Société française de transfusion sanguine·J Bingulac-PopovićI Jukić

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