Diagnostic accuracy of fetal rhesus D genotyping using cell-free fetal DNA during the first trimester of pregnancy
| Autor: | Alexandra Benachi, François-Xavier Huchet, Jean-Marc Costa, Alexandre J. Vivanti, Yves Ville, Henri Cohen |
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| Rok vydání: | 2016 |
| Předmět: |
Adult
medicine.medical_specialty Genotyping Techniques Rho(D) Immune Globulin 030204 cardiovascular system & hematology Real-Time Polymerase Chain Reaction Sensitivity and Specificity law.invention 03 medical and health sciences 0302 clinical medicine Fetus law Pregnancy medicine Humans Genotyping Polymerase chain reaction Retrospective Studies Gynecology 030219 obstetrics & reproductive medicine Rh-Hr Blood-Group System business.industry Obstetrics Obstetrics and Gynecology DNA Exons medicine.disease Confidence interval Pregnancy Trimester First Real-time polymerase chain reaction Cell-free fetal DNA Blood Group Incompatibility Gestation Female business |
| Zdroj: | American journal of obstetrics and gynecology. 215(5) |
| ISSN: | 1097-6868 |
| Popis: | Background Rhesus D genotyping with cell-free fetal DNA currently is used throughout the world. Although this technique has spread rapidly, its optimal use is still a matter of debate. This screening test has been introduced mainly for the treatment of RhD-negative pregnant women during the third trimester of pregnancy, thereby avoiding systematic anti-D prophylaxis, yet such a strategy has proved cost-ineffective. Publications reporting on fetal RHD genotyping with cell-free DNA in maternal plasma, specifically during the first trimester of pregnancy, are scarce in the scientific literature. Objective This study sought to assess the performance of noninvasive fetal Rhesus D genotyping in the first trimester of pregnancy with a single-exon real-time polymerase chain reaction assay. Study Design This was a retrospective observational multicenter study. Cell-free fetal DNA was extracted from maternal blood of both nonimmunized and immunized women at 10–14 weeks of gestation. RHD sequence was determined by quantitative polymerase chain reaction, with amplification of exon 10. Results were compared with RhD phenotype data that were obtained by cord blood sampling of neonates. Results In total, 416 serum samples from RhD-negative pregnant women were collected during the first trimester of pregnancy. The test's overall sensitivity and specificity were 100% (95% confidence interval, 96.9–100.0) and 95.2% (95% confidence interval, 90.5–97.6), respectively. The negative and positive predictive values were 99.8% (95% confidence interval, 94.9–100.0) and 97.1% (95% confidence interval, 94.2–98.6), respectively. Fetal RHD status was inconclusive in 9 cases (2.2%). Conclusion Noninvasive fetal RHD determination by single-exon quantitative polymerase chain reaction during the first trimester of pregnancy exhibits high accuracy. |
| Databáze: | OpenAIRE |
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