Table 1 Characteristics of the newborns in the study cohort
From: Effect of newborn genomic screening for lysosomal storage disorders: a cohort study in China
NBGS | NBGS + Enzyme activity detection | |||||
|---|---|---|---|---|---|---|
No. (%) (N = 22,687) | All (N = 900) | Negative a (N = 290) | Carrier b (N = 543) | Positive c (N = 29) | Non-LSD Positive d (N = 38) | |
Sex | ||||||
Male | 11,996 (52.88) | 490 (54.44) | 158 (54.48) | 290 (53.41) | 14 (48.28) | 28 (73.68) |
Female | 10,691 (47.12) | 410 (45.56) | 132 (45.52) | 253 (46.59) | 15 (51.72) | 10 (26.32) |
Unknown | 0 (0.00) | 0 (0.00) | 0 (0.00) | 0 (0.00) | 0 (0.00) | 0 (0.00) |
Gestation age | ||||||
Preterm (< 37 wk) | 857 (3.78) | 25 (2.78) | 2 (0.69) | 19 (3.50) | 3 (10.34) | 1 (2.63) |
Full term (37–40 wk) | 16,511 (72.78) | 661 (73.44) | 220 (75.86) | 396 (72.93) | 19 (65.52) | 26 (68.42) |
Late term (40.1–42 wk) | 5308 (23.40) | 214 (23.78) | 68 (23.45) | 128 (23.57) | 7 (24.14) | 11 (28.95) |
Post term (> 42 wk) | 0 (0.00) | 0 (0.00) | 0 (0.00) | 0 (0.00) | 0 (0.00) | 0 (0.00) |
Unknown | 11 (0.05) | 0 (0.00) | 0 (0.00) | 0 (0.00) | 0 (0.00) | 0 (0.00) |
Birth weight | ||||||
< 2750 g | 1469 (6.48) | 44 (4.89) | 6 (2.07) | 34 (6.26) | 3 (10.34) | 1 (2.63) |
2750–4000 g | 21,018 (92.64) | 816 (90.67) | 276 (95.17) | 483 (88.95) | 24 (82.76) | 33 (86.84) |
> 4000 g | 190 (0.84) | 40 (4.44) | 8 (2.76) | 26 (4.79) | 2 (6.90) | 4 (10.53) |
Unknown | 10 (0.04) | 0 (0.00) | 0 (0.00) | 0 (0.00) | 0 (0.00) | 0 (0.00) |
Delivery | ||||||
Eutocia | 13,224 (58.29) | 500 (55.56) | 142 (48.97) | 325 (59.85) | 11 (37.93) | 22 (57.89) |
Cesarean | 9456 (41.71) | 400 (44.44) | 148 (51.03) | 218 (40.15) | 18 (62.07) | 16 (42.11) |
Unknown | 7 (0.03) | 0 (0.00) | 0 (0.00) | 0 (0.00) | 0 (0.00) | 0 (0.00) |