Table 3 Comparison with other similar studies
From: NeoSeq: a new method of genomic sequencing for newborn screening
Study | Year | Samples | Project | Method | Panel | Sensitivity | Specificity | Additional discovery | Carrier rate |
|---|---|---|---|---|---|---|---|---|---|
Dale L [1] | 2016 | 1696 infants | – | WGS | 163 genes | 88.6% | 98.9% | G6PD etc | – |
Aashish N [2] | 2020 | 1190 805 with IEM 385 with TMS false positives | Newbie Seq | WES | 78 genes associated with the 48 IEMs | 88.0% | 93.7% | – | 34.0% |
Tamara S [3] | 2020 | 106 17 with IEM 28 with hearing loss cases 61 healthy newborns | NC NEXUS | ES | 466 genes | 88.0% for IEM 18.0% for hearing loss | 100% | OTC deficiency Amilial hypercholesterolemia Actor XI deficiency Arrhythmogenic right ventricular dysplasia | – |
Monica H [4] | 2021 | 316 12 with NBS Positive 147 with NBS Negative 127 healthy newborns | BabySeq | ES | 954 genes | 60.0% | 100% | Cardiomyopathy Hereditary breast and ovarian cancer Supravalvular aortic stenosis KBG syndrome Atypical hemolytic-uremic syndrome Glomuvenous malformation Cystinuria Non-syndromic hearing loss Lynch syndrome | - |
Our | 2021 | 196 36 with IEM 60 with TMS false positives 100 with TMS negative | Neoseq | MTA-Seq | 135 genes related to 75 diseases | 55.6% (20/36) | 99.4% (159/160) | Hear loss G6PD MELAS CH | 26.3% (42/160) |