Table 1.
Sequences of the primers and probes with their respective fluorophore reporter, quencher and nucleotide modifications used in the qPCR screening assay.
Fig 1.
Amplification plots for the fluorescent probes representing the four targets ACTB, HbS allele, SMN1, and TREC in samples of four different physiological conditions.
(A) A normal newborn, or screening negative, sample showing a normal amplification of ACTB, SMN1, and TREC, and no amplification of the HbS allele; (B) a reference SCID positive sample showing no TREC amplification; (C) a reference SMA positive sample with no SMN1 amplification; (D) a sample showing HbS amplification indicating the allele presence. The figure was created using R (v. 4.1.2), ggplot2 (v. 3.3.5), dplyr (v. 1.0.7).
Fig 2.
The combined SCID, SMA and SCD screening.
Between July 1, 2021 and March 31, 2022, a total of 96,015 newborns were screened with a multiplex qPCR assay for SCID, SMA, and SCD. By the end of this period, a total of two SCID, one non-SCID syndromal lymphopenia,14 SMA, and 22 SCD patients were identified, * X = DPunjab, E, or OArab; ** one preterm patient was recalled. The figure was created with InkScape (v. 1.2).