Newborn Screening for Severe Combined Immunodeficiency in Taiwan

Chien, Yin‐Hsiu; Yu, Hsin-Hui; Lee, Ni‐Chung; Ho, Hui Chen; Kao, Shu Min; Lu, Meng Yao; Jaing, Tang‐Her; Lee, Wen I.; Chang, Kuei Wen; Shieh, Chi Chang; Chen, Jiann Shiuh; Chiang, Shou Hao; Liu, Chen Chen; Hwu, Wuh‐Liang

doi:10.3390/ijns3030016

Cited by 34 publications

(38 citation statements)

References 40 publications

(56 reference statements)

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“…Prolonged shedding of the Rotarix vaccine-derived G1P[8] strain is well reported in infants with SCID,19 and vaccination of infants with SCID with live rotavirus vaccines, including Rotarix, is contraindicated. Infants with SCID can be diagnosed early through national newborn screening programmes, but this is not universally implemented,20–22 including in England, although a pilot study is being planned. In countries without such a screening programme, infants with prolonged gastrointestinal symptoms after rotavirus vaccination and/or shedding of Rotarix vaccine-derived strain, particularly more than 7 weeks following the most recent immunisation, should be assessed for underlying immune deficiency, especially SCID 20…”

Section: Discussionmentioning

confidence: 99%

Vaccine-derived rotavirus strains in infants in England

et al. 2019

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ObjectiveTo describe infants with acute gastroenteritis symptoms in primary and secondary care who have the Rotarix vaccine-derived G1P[8] rotavirus strain identified in their stools.DesignThis is a prospective national surveillance conducted by Public Health England (PHE). Rotavirus-positive samples from vaccine-eligible children are routinely submitted to PHE for confirmation, and general practitioners are requested to complete a surveillance questionnaire for all cases. The modified Vesikari Score was used to assess severity of gastroenteritis.SettingEngland, July 2013–September 2016.Results2637 rotavirus strains were genotyped and 215 (8%) identified as the Rotarix vaccine-derived G1P[8] strain. There were no Rotarix vaccine-derived G1P[8] strains detected in unimmunised infants. Rotarix vaccine-derived G1P[8] strains clustered around the time of rotavirus vaccination and were responsible for 82% (107 of 130) of rotavirus-positive samples in 2-month-old infants and 68% (36 of 53) in 3-month-old infants. However, 13 samples were obtained more than 7 weeks after the last vaccination date; 10 of these specimens were from six children who were subsequently diagnosed with severe combined immunodeficiency (SCID). Diarrhoea was the single most common presenting symptom (83.0%) in infants with Rotarix vaccine-derived G1P[8] strains, who were less likely to present with fever, vomiting, dehydration or severe gastroenteritis than infants with wild-type rotavirus infection.ConclusionsRotavirus identified in stools of infants around the time of their routine immunisations is most likely the Rotarix vaccine-derived G1P[8] strain. Infants with undiagnosed SCID at the time of rotavirus immunisation may experience prolonged gastroenteritis symptoms. Most infants with vaccine strains in their stools more than 7 weeks after immunisation had SCID.

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Section: Discussionmentioning

confidence: 99%

Vaccine-derived rotavirus strains in infants in England

et al. 2019

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“…Полученные нами медианные значения TREC (195 копий на мкл цельной крови) наиболее близки к таковым, полученным с использованием моноплексных "in-house" тест-систем [13,14,26,29,31,41,44,47]. Между тем значения TREC в исследованиях проведенных с использованием коммерческого набора Enlite™ Neonatal TREC kit (PerkinElmer, Turku, Finland), отличаются несколько меньшими значениями (96-112 копий на мкл) [6,7,8,10,42,43].…”

Section: Discussionunclassified

Determining Reference Ranges for Trec and Krec Assays in Immune Deficiency Screening of Newborns in Russian Federation

et al. 2019

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In this work, we used a reference population of newborns and sampled dried blood spots on Guthrie cards of 2,739 individual samples to determine the reference intervals for TRECs and KRECs values, in order to diagnose primary immunodeficiency by means of neonatal screening. The median absolute values for TRECs and KRECs were 195 (CI95%: 185-206) and 185 (CI95%: 176-197) copies per μl, respectively; the normalized value for TRECs was 2780 (CI95%: 2690-2840), and for KRECs, 2790 (CI95%: 2700-2900) copies per 2 × 105 copies of the albumin gene or 105 cells. The reference interval was calculated for 99 and 99.9 percentiles of total TRECs and KRECs individual values. Due to asymmetric distribution of data, the outliers were filtered off, using the Tukey’s criterion applied after logarithmic transformation of the data. When analyzing absolute values for TREC/KREC (per μL of blood), no “drop-down” TRECs values were identified; for KRECs, 18 experimental values were excluded from further analysis (from 9.8 to 13.5). The outlying values were not identified among the normalized values of TRECs/KRECs. The obtained reference values for TRECs and KRECs (at the 0.1 percentile level) were, respectively, 458 and 32 per 105 cells, or 23 and 17 per μl of blood samples from neonates.

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“…They will perform the heel prick and send the heel prick card by post to one of the five screening laboratories (7). The heel prick cards are then analysed and the results are registered in the laboratory information system (LIMS) and the national monitoring database Praeventis (8). Abnormal results are forwarded to the general practitioner (GP) (9a) and paediatrician (9b) by the medical advisor.…”

Section: Introductionmentioning

confidence: 99%

Introducing Newborn Screening for Severe Combined Immunodeficiency (SCID) in the Dutch Neonatal Screening Program

Blom

Bredius

Weijman

et al. 2018

IJNS

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The implementation of newborn screening for severe combined immunodeficiency (SCID) in the Netherlands is a multifaceted process in which several parties are involved. The Dutch Ministry of Health adopted the advice of the Dutch Health Council to include SCID in the Dutch newborn screening program in 2015. As newborn screening for SCID is executed with a new, relatively expensive assay for the Dutch screening laboratory, an implementation pilot study is deemed instrumental for successful implementation. A feasibility study was performed in which the practicalities and preconditions of expanding the newborn screening program were defined. Cost-effectiveness analysis (CEA) indicated that SCID screening in the Netherlands might be cost-effective, recognizing that there are still many uncertainties in the variables underlying the CEA. Data and experience of the pilot study should provide better estimates of these parameters, thus enabling the actualization of CEA results. Prior to the implementation pilot study, a comparison study of two commercially available SCID screening assays was performed. A prospective implementation pilot study or so-called SONNET study (SCID screening research in the Netherlands with TRECs) started in April 2018 and allows the screening for SCID of all newborns in three provinces of the Netherlands for one year. Based on the results of the SONNET study, the Dutch Ministry of Health will make a final decision about national implementation of newborn screening for SCID in the Netherlands.

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Newborn Screening for Severe Combined Immunodeficiency in Taiwan

Cited by 34 publications

References 40 publications

Vaccine-derived rotavirus strains in infants in England

Vaccine-derived rotavirus strains in infants in England

Determining Reference Ranges for Trec and Krec Assays in Immune Deficiency Screening of Newborns in Russian Federation

Introducing Newborn Screening for Severe Combined Immunodeficiency (SCID) in the Dutch Neonatal Screening Program

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