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 |
---|---|---|---|---|---|---|
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, 78–80] | 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 |
Small independent studies | Low | Simple | Not tested | Direct discrimination of fetal proteins | Requires accurate quantification to distinguish normal from abnormal pregnancies | |
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 | |
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 | |
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 | |
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 | |
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 |