Thirteen studies were included, re-confirming 89 known SCID cases in case series and reporting 53 new SCID cases in 3.15 million newborns. We calculated positive predictive value (PPV), test sensitivity and SCID incidence. We extracted TREC content and cut-off values, number of retests, repeat DBS and referrals, and type and number of typical SCID and other T cell lymphopenia (TCL) cases. PubMed, EMBASE and the Cochrane Library were systematically searched for case series and prospective cohort studies describing TREC based NBS for SCID. To systematically review the diagnostic performance of published algorithms for TREC based NBS for SCID. In recent years, different screening algorithms for TREC based SCID screening were reported. All laboratories must release SCID (severe combined immunodeficiency) results (including 0911-not offered) by 21 days of age to facilitate timely offer and uptake of the BCG vaccination.Newborn screening (NBS) by quantifying T cell receptor excision circles (TRECs) in neonatal dried blood spots (DBS) enables early diagnosis of severe combined immunodeficiency disease (SCID). Releasing results on a condition by condition basisĪll laboratories are permitted to release results on a condition by condition basis. To comply with this guidance, laboratories should only inform other appropriate healthcare professionals of positive results after the relevant clinical team has confirmed that it has contacted the family. Some laboratories inform maternity services, health visitors and GPs of positive results. Informing maternity services, health visitors and GPs Work continues on how communication can be improved between clinical teams and laboratories. The clinical team continues to be responsible for informing the screening laboratory when the newborn baby has been seen in clinic and of the diagnostic outcome. However, it does provide a minimum workable standard that is sufficient to release the positive result to CHIS and NBSFS. This guidance does not close the reporting pathway, as ‘contact’ from the clinical team does not mean that the baby has been seen. This guidance is due to be reviewed in 2023. Since 1 June 2021, laboratories must, as a minimum, seek to ensure the family has been contacted before releasing a positive screening result (including CF carriers) to CHIS and NBSFS. a consistent approach across all newborn screening laboratories when reporting screen positive results.there is a reduced risk of families receiving positive results from a health visitor before being contacted by the clinical team.the family is contacted by the clinical team before receiving the result via a letter or electronically (via the dPCHR).any questions the family has are answered adequately when the result is communicated, thus reducing their anxiety.If the clinical team or nominated person does not respond with confirmation, the laboratory must, as a minimum, make 2 further attempts to gain a response over a period of 2 weeks and document these attempts before releasing the positive screening result to CHIS and NBSFS without further delay. After this has been confirmed, the laboratory should release the positive result to CHIS and NBSFS. The clinical team or nominated person should inform the laboratory when the parent or parents have been contacted. Laboratories should notify the relevant clinical team or nominated person of a positive result. It applies to all screen positive results, including cystic fibrosis (CF) carrier status, but does not apply to sickle cell carrier results. This guidance does not change the way families are currently informed of a positive screening result but clarifies when laboratories should report screen positive results to CHIS and NBSFS. To avoid this possibility, some laboratories already wait for confirmation from the relevant clinical team that parents have been contacted before a positive result is released to CHIS. The digital Personal Child Health Record ( dPCHR) introduces the potential for parents to receive a positive result before having contact with the clinical team. Unfortunately, there have been incidents where a health visitor has informed a family of a positive result before the clinical team had contacted the family. Some laboratories release a positive result to CHIS without confirmation that the clinical team has contacted the family. The reporting of newborn blood spot ( NBS) screen positive results from the laboratory to the Child Health Information Service ( CHIS) and Newborn Blood Spot Failsafe Solution ( NBSFS) varies across the country.
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