Introduction: Sickle cell disease (SCD) is a genetically inherited, recessive mutation of the haemoglobin βSgene. Each year, over 300,000 babies are born with SCD, which will have a significant impact on their quality of life and average life expectancy. Currently, for SCD to be tested prenatally, foetal DNA is extracted by amniocentesis, chorionic villus sampling or cordocentesis, and then analysed by polymerase chain reaction (PCR), for instance. These procedures increase the risk of foetal miscarriage by less than 0.5%. SCD may, however, be tested non-invasively using cell-free foetal DNA (cffDNA), which is extracted from maternal blood plasma. In this study, the current accuracy of using cffDNA testing for non-invasive prenatal diagnosis (NIPD) of SCD will be shown.Methods: Using databases such as PubMed, Web of Science and Scopus, this study systematically reviewed existing studies pertaining to the use of cffDNA maternal blood samples for non-invasive prenatal testing (NIPT) or diagnosis (NIPD) for SCD in patients who were at risk of having a baby with SCD. The data collected from the systematic review of the studies was statistically analysed in the form of a meta-analysis, describing the proportion of correct diagnosis results for this method of prenatal testing.Results: Of over 3,600 papers identified from the database searches, only five studies contained data pertaining to the use of cffDNA for prenatal testing of SCD and conformed to the inclusion criteria set out by this study. Collectively, these data showed an average of 81.30% accuracy of diagnosis when using cffDNA to test for SCD, with 18.70% of foetuses incorrectly diagnosed. These data were compiled as a Forest Plot meta-analysis.Conclusion: CffDNA for non-invasive prenatal SCD diagnosis appears to have the potential to be an accurate technique for the testing of this genetic disease, despite not currently indicating a proportion of correct diagnosis results which would encourage the technique for clinical implementation. Whilst there are currently very limited data on the use of this technique for the specific testing of SCD, there is great opportunity for further research into the standardisation and clinical application of this procedure.
INTRODUCTION: With over 2 million American affected by Sickle Cell Disease (SCD) and an estimated 17,000 women affected by the disease in the United Kingdom, pregnancies complicated by SCD can be very challenging with various maternal and fetal complications. Currently, for SCD to be tested prenatally, fetal DNA is extracted by amniocentesis, chorionic villus sampling or cordocentesis and then analyzed by polymerase chain reaction (PCR). However, these procedures increase the risk of fetal miscarriage by up to 1%. In this presentation, we explore the efficacy of testing for SCD, non-invasively, using cell-free fetal DNA (cffDNA), which is extracted from maternal blood plasma. METHODS: Using literature databases we systematically reviewed existing studies pertaining to the use of cffDNA for non-invasive prenatal testing or diagnosis for SCD. The data collected as statistically analyzed, with the aim of appraising the sensitivity and specificity of this method of prenatal testing. RESULTS: Our analysis an average of 87.20% accuracy of diagnosis when using cffDNA to test for SCD, with 7.51% of fetuses incorrectly diagnosed. CONCLUSION: SCD is associated with significant maternal fetal complications such as intra uterine growth restrictions and preeclampsia. CffDNA for non-invasive prenatal SCD diagnosis appears to have the potential to be an accurate technique for the testing of this genetic disease. Whilst there are currently very limited data on the use of this technique for the specific testing of SCD, there is great opportunity for further research into the standardization and clinical application of this procedure.
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