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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, 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

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.