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ORIGINAL ARTICLE
Year : 2017  |  Volume : 34  |  Issue : 1  |  Page : 11-15

Impact of maternal DNA contamination of fetal DNA in chorionic villi on prenatal diagnosis of sickle cell anemia


1 Feto-Maternal Medicine Unit, Department of Obstetrics and Gynaecology, Olabisi Onabanjo University Teaching Hospital, Ogun State, Nigeria
2 Molecular Laboratory Research Unit, Department of Cell Biology and Genetics, University of Lagos, Lagos State, Nigeria

Correspondence Address:
O A Oloyede
Fetal and Maternal Medicine Unit, Department of Obstetrics and Gynaecology, Olabisi Onabanjo University Teaching Hospital, Ogun State
Nigeria
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/TJOG.TJOG_22_17

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Objective: The study aim was to determine the hemoglobin genotypic and allelic distributions in fetal population, and to quantitatively evaluate the effect of heterozygous maternal DNA contamination of homozygous fetal DNA in chorionic villi, on fetal hemoglobin genotypes. Materials and Methods: A descriptive, cross sectional study of amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) analysis of fetal hemoglobin genotype using DNA from chorionic villi and maternal venous blood. The primary fetal hemoglobin genotypes were obtained in the first phase and the secondary hemoglobin genotypes after contaminating homozygous primary genotypes (HbAHbA and HbSHbS) with varying proportions of heterozygous maternal DNA (HbAHbS). Data analysis was done with Micosoft Excel 2010 statistical package and Chi-square (goodness-of-fit). Results: There was no statistically significant deviation in the hemoglobin genotypic and allelic counts between the observed and the expected counts in the fetal population based on Mendelian expectation. Contaminating homozygous fetal DNA with >11.1% (0.5 μl) of heterozygous maternal DNA produced significant change in fetal hemoglobin genotype results. Homozygous hemoglobin genotypes HbAHbA were affected more than HbSHbS. Conclusion: Study established Mendelian distribution in the fetal population and the levels of heterozygous maternal contamination of homozygous fetal DNA that resulted in significant risk of misdiagnosis.


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