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Non-invasive prenatal rhesus D genotyping using cell-free foetal DNA.
- Source :
-
The Indian journal of medical research [Indian J Med Res] 2019 Jul; Vol. 150 (1), pp. 62-66. - Publication Year :
- 2019
-
Abstract
- Background & Objectives: Non-invasive prenatal diagnosis (NIPD) of rhesus D (RHD) genotype using cell-free foetal DNA is extensively used in many developed countries. Studies on NIPD from India are scarce. The aim of the present study was to evaluate the performance of non-invasive foetal RHD genotyping by targeting exon 10 of the RHD gene using cell-free DNA.<br />Methods: DNA was extracted from the maternal plasma of alloimmunized and non-alloimmunized women between 7 and 34 wk of gestation. RHD sequence was determined by quantitative real time polymerase chain reaction (PCR). Results were compared with RhD phenotype obtained from cord blood samples of neonates.<br />Results: A total of 135 samples from RhD-negative pregnant women were collected. The foetal RHD status was conclusive in all 135 (100%) cases. The highest number of cases reported for RHD genotyping were from Punjab (38.5%) followed by Haryana (24.4%), Himachal Pradesh (17.0%) and Chandigarh Union Territory (13.3%). The non-invasive test correctly predicted the foetal RhD phenotype in 133 of 135 cases, making the accuracy of the test as 98.51 per cent [95% confidence interval (CI): 97.90-99.50%]. The overall sensitivity and specificity of the test were 99.18 per cent (95% CI: 95.52-99.98%) and 92.31 per cent (95% CI: 63.97-99.81%), respectively, with negative and positive predictive values of 99.80 per cent (95% CI: 94.85-99.87%) and 96.31 per cent (95% CI: 62.87-98.84%), respectively.<br />Interpretation & Conclusions: Non-invasive foetal RHD determination by single-exon quantitative PCR exhibited high accuracy and could be used in routine clinical practice after confirmatory studies are done.<br />Competing Interests: None
- Subjects :
- Adult
Animals
Exons
Female
Fetus immunology
Genotype
Humans
India
Infant, Newborn
Macaca mulatta immunology
Phenotype
Pregnancy
Prenatal Care
Real-Time Polymerase Chain Reaction
Rh-Hr Blood-Group System immunology
Rh-Hr Blood-Group System isolation & purification
DNA genetics
Genetic Testing
Prenatal Diagnosis
Rh-Hr Blood-Group System genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0971-5916
- Volume :
- 150
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- The Indian journal of medical research
- Publication Type :
- Academic Journal
- Accession number :
- 31571630
- Full Text :
- https://doi.org/10.4103/ijmr.IJMR_1787_17