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Table 1 Advantages and disadvantages of different NIPD approaches

From: Non-invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications

Technology Sensitivity/specificity (%) Cost Complexity Reproduced by other groupsa Advantages Technical and clinical challenges
Formaldehyde treatment [67, 68] 98.2% sensitivity 66.6% specificity Low Simple No Indirect enrichment of fetal DNA Requires a large number of informative SNPs
DNA methylation studies using sodium bisulfite [21, 7880] Small independent studies Low Simple Not tested Direct enrichment of fetal DNA DNA degradation, full conversion is rarely achieved
DNA methylation studies using restriction enzymes [22, 77, 79] Small independent studies Low Simple Not tested Indirect enrichment of fetal DNA Limited to the investigation of regions with restriction sites
Protein-based studies [25, 87] Small independent studies Low Simple Not tested Direct discrimination of fetal proteins Requires accurate quantification to distinguish normal from abnormal pregnancies
Next-generation sequencing [19, 20, 89, 91, 95] 99.2 to 100% sensitivity 97.9 to 99.7% specificity High Complex Yes Reliable Time consuming (more than one week to obtain the result), laborious, requires technical expertise, requires expensive equipment and infrastructure
MeDIP real time qPCR-based approach [98, 99] 100% sensitivity 100% specificity Low Simple Not tested Results obtained within 3 to 4 days Requires 100% antibody performance, requires extensive quality control of reagents prior to use
Identification of fetal-specific mRNAs [104, 106, 108, 109] 100% sensitivity 89.7% specificity Low Simple Not tested Direct discrimination of fetal RNA from maternal RNA Requires a large number of informative SNPs, limited by mRNA stability
Digital PCR-based approach [110, 111] Proof-of-principle High Complex Not tested Accurate quantification of DNA molecules Requires technical expertise, simplification is achieved by the use of microfluidic devices, which are expensive and not widely available
Epigenetic-genetic chromosome-dosage approach [78, 79] 96.9% sensitivity 92.8% specificity High Complex Not tested Use of digital PCR Requires a large number of informative SNPs, simplification is achieved by the use of microfluidic devices, which are expensive and not widely available
  1. a'No' refers to the presence of published literature indicating failure to reproduce the results by independent groups; 'Not tested' refers to the absence of published literature indicating reproduction of the results by independent groups. MeDIP, methylated DNA immunoprecipitation; PCR, polymerase chain reaction; qPCR, quantitative polymerase chain reaction; SNP, single nucleotide polymorphism.