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Table 2 Comparison of clinical validation studies performed for the NIPD of aneuploidies

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

NIPD clinical study Groups tested Exclusion criteria Excluded cases (%) Clinical findings: sensitivity/specificity (%)
NGS study [89] 667 normal 86 trisomy 21 Insufficient sample quality (for example, amount of sample) Failed quality control of sequencing (failed DNA extraction, library construction or sequencing) 7.1 100/97.9
NGS study [90] 441 normal 39 trisomy 21 Insufficient sample quality (fetal fraction, total DNA) 6.4 100/99.7
NGS study [91] 4,452 normal 221 trisomy 21 Sample not adequate (sample volume, long processing time, poor sample quality) 63.6 99.2/98.6
NGS study (DANSR approach) [95] 252 normal 39 trisomy 21 7 trisomy 18 No exclusion criteria were mentioned 0 100/100
NGS study (single molecule DNA sequencing) [96] 9 normal 11 trisomy 21 Insufficient sample quality (for example, fetal fraction) Failed quality control of sequencing (for example, library concentration) 5 100/100
MeDIP real time qPCR-based approach [99] 46 normal 34 trisomy 21 No exclusion criteria were mentioned 0 100/100
mRNA-based approach for trisomy 21[108] 137 normal 16 trisomy 21 Cases with no informative SNP 59.49 100/89.7
Epigenetic-genetic chromosome-dosage approach [79] 24 normal 5 trisomy 21 (all pregnancies with male fetuses) Pregnancies with female fetuses 0 95.8/100
Epigenetic-genetic chromosome-dosage approach [78] 33 normal 14 trisomy 21 Cases with no informative SNP 0 96.9 /92.8
  1. DANSR, digital analysis of selected regions; MeDIP, methylated DNA immunoprecipitation; NGS, next-generation sequencing; qPCR, quantitative polymerase chain reaction; SNP, single nucleotide polymorphism.