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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)