Fetal RHD Genotyping in Maternal Plasma at 11–13 Weeks of Gestation
| Autor: | Ranjit Akolekar, Geoff Daniels, Kirstin Finning, Ramesh Kuppusamy, Kypros H. Nicolaides |
|---|---|
| Rok vydání: | 2011 |
| Předmět: |
Embryology
Fetus medicine.medical_specialty Pregnancy Obstetrics business.industry Obstetrics and Gynecology Gestational age General Medicine medicine.disease Cell-free fetal DNA embryonic structures Pediatrics Perinatology and Child Health Blood plasma medicine Gestation Radiology Nuclear Medicine and imaging Neonatology business Genotyping |
| Zdroj: | Fetal Diagnosis and Therapy. 29:301-306 |
| ISSN: | 1421-9964 1015-3837 |
| DOI: | 10.1159/000322959 |
| Popis: | Objective: To examine the feasibility of fetal RHD genotyping at 11–13 weeks’ gestation from analysis of circulating cell-free fetal DNA (ccffDNA) in the plasma of RhD negative pregnant women using a high-throughput robotic technique. Methods: Stored plasma (0.5 ml) from 591 RhD negative women was used for extraction of ccffDNA by a robotic technique. Real-time quantitative polymerase chain reaction (PCR) with probes for exons 5 and 7 of the RHD gene was then used to determine the fetal RHD genotype, which was compared to the neonatal RhD phenotype. Results: In total there were 502 (85.7%) cases with a conclusive result and 84 (14.3%) with an inconclusive result. The prenatal test predicted that the fetus was RhD positive in 332 cases and in all of these the prediction was correct, giving a positive predictive value of 100% (95% CI 96.8–100). The test predicted that the fetus was RhD negative in 170 cases and in 164 of these the prediction was correct, giving a negative predictive value for RhD positive fetuses of 96.5% (95% CI 93.7–99.2). Conclusion: The findings demonstrate the feasibility and accuracy of non-invasive fetal RHD genotyping at 11–13 weeks with a high-throughput technique. |
| Databáze: | OpenAIRE |
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