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Abstract
Purpose
Severe combined immunodeficiency (SCID) is the most serious form of primary immunodeficiency. Infants with SCID are susceptible to life-threatening infections. To establish newborn screening for SCID in Korea, we performed a screening test for T—cell receptor excision circle (TREC) and K-deleting recombination excision circle (KREC) in neonates and investigated the awareness of SCID among their parents.
Methods
Collections of dried blood spots from neonates and parent surveys were performed at the Samsung Medical Center and Cheil General Hospital & Women's Healthcare Center in Korea. The amplification crossing point (Cp) value <37.0 was defined as TREC/KREC—positive based on cutoff values from measuring multiplex realtime polymerase chain reaction. A Cp value >39.0 was defined as negative.
Results
ForTREC/KREC screening, 141 neonates were enrolled; 63 (44.7%) were male. One hundred forty neonates (99.3%) had positive TREC/KREC results at the time of the initial test; 82.3% and 75.9% were positive and 17.0% and 23.4% were weakly positive for TREC and KREC, respectively. In one neonate (0.7%), the initial TREC/KREC test result was negative. However, repeated tests obtained and confirmed a positive result. For an awareness survey, 168 parents were engaged. Only 2% of parents (3/168) knew that the newborn screening test for SCID had been introduced and performed in other countries. Eighty—four percent of parents (141/168) replied that nationwide newborn SCID screening should be performed in Korean newborns.
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Fig. 1.
Schematic illustration for newborn TREC/KREC screening using multiplex realtime polymerase chain reaction (PCR). Abbrevaitions: TREC, T-cell receptor excision circle; KREC, K-deleting recombination excision circle; Cp, crossing point.
Fig. 2.
Flow chart of the multiplex realtime polymerase chain reaction for 141 freshly collected Guthrie cards from Korean newborns. Abbreviations: TREC, T-cell receptor excision circle; KREC, K-deleting recombination excision circle; Cp, crossing point.
Fig. 3.
T-cell receptor excision circle (TREC) and K-deleting recombination excision circle (KREC) crossing point (Cp) values in dried blood spot samples from 141 neonates and negative controls.
Fig. 4.
Questionnaire survey in expecting parents. A total of 168 parents answered. (A) Have you ever heard of newborn screening test for congenital metabolic diseases performed free of charge after birth in Korea? (B) Have you ever heard of primary immunodeficiencies? (C) Have you ever heard of severe combined immunodeficiency (SCID)? (D) Have you ever heard of newborn screening test for SCID that has been introduced and performed in other developed countries? (E) Do you think that newborn SCID screening is needed in Korean newborns?
Table 1.
Analysis of TREC and KREC Cp Values
| Positive | Weak positive | Negative | |
|---|---|---|---|
| TREC | 83.0(117/141) | 17.0 (24/141) | 0(0/141)∗ |
| KREC | 76.6 (108/141) | 23.4 (33/141) | 0 (0/141)∗ |
Values are presented as percentage (number). ∗In one neonate, initial TREC/KREC test result was negative (Cp:39.9/40.0). How ever, repeated test confirmed positive (Cp=37.8/37.2, TREC/KREC weak positive). Abbreviations: TREC, T-cell receptor excision circle; KREC, K-deleting recombination excision circle Cp, crossing point.
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