TABLE 1.

Clinical data for 307 infants from three medical centers.

Characteristics	Findings
Sex [n (%)]
Male	183 (59.61%)
Female	124 (40.39%)
Gestational age (weeks) [n (%)]
>37 weeks	217 (70.68%)
37∼28 weeks	84 (27.36%)
<28 weeks	6 (1.96%)
Birth weight [n (%)]
≥2500 g	230 (74.92%)
1500∼2500 g	56 (18.24%)
<1500 g	21 (6.84%)
Age at enrollment [M(P25∼P75)], days	8 (1-26.00)
≤28 days of age [n (%)]	243 (79.15%)
28∼100 days of age [n (%)]	64 (20.85%)
Length of stay [M (P25∼P75)], days	14 (8-30)
Prenatal findings [n (%)]	29 (9.45%)
Consanguity [n (%)]	2 (0.65%)
Family history [n (%)]	14 (4.56%)
Age of testing [M (P25∼P75)], days	20 (8-39)
Age of confirmed diagnosis [M (P25∼P75)], days	76 (55–100)
Turnaround time [M (P25∼P75)], days	52 (35–66)
Mortality [n (%)]
NICU	27 (8.79%)
Post-NICU	54 (17.59%)
Total 180 days	81 (26.38%)
NGS tests [n (%)]
Panels	50 (16.29%)
WES	257 (83.71%)
Testing protocols [n (%)]
Proband-panels	12 (3.91%)
Trio-panels	32 (10.42%)
Proband-WES	44 (14.33%)
Trio-WES	209 (68.08%)
Dyads	10 (3.26%)

NGS, next-generation sequencing; WES, whole-exome sequencing.