Dataset Information

Neonatal Screening for SCID: The French Experience.

ABSTRACT: After it was demonstrated in 2005 that T cell receptor excision circle (TREC) quantification for dried blood spot (DBS) samples on Guthrie cards is an effective means of SCID screening and following several pilot studies, the practice was formally recommended in the US in 2010. More and more countries have adopted it since then. In France, before the health authorities could recommend adding SCID to the list of five diseases that were routinely screened for, feasibility and cost-effectiveness studies had to be conducted with a sufficiently large cohort of neonates. We carried out three such studies: The first sought to verify the effectiveness of the assay. The second, DEPISTREC, evaluated the feasibility of universal SCID screening in France and assessed the clinical benefit and economic advantage it would provide. Through the third study, NeoSKID, still under way and to continue until recommendations are issued, we have been offering SCID screening in the Pays de la Loire region of France. This review briefly describes routine newborn screening (NBS) and management of primary immunodeficiency diseases (PIDs) in France, and then considers the lessons from our studies and the status of SCID screening implementation within the country.

SUBMITTER: Audrain M

PROVIDER: S-EPMC8293192 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature

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Neonatal Screening for SCID: The French Experience.

Audrain Marie M Thomas Caroline C

International journal of neonatal screening 20210712 3

After it was demonstrated in 2005 that T cell receptor excision circle (TREC) quantification for dried blood spot (DBS) samples on Guthrie cards is an effective means of SCID screening and following several pilot studies, the practice was formally recommended in the US in 2010. More and more countries have adopted it since then. In France, before the health authorities could recommend adding SCID to the list of five diseases that were routinely screened for, feasibility and cost-effectiveness st ...[more]

PMID: 34287257

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Project description:PurposeTo describe the process and assess outcomes for the first 2 years of newborn screening for severe combined immunodeficiency (SCID NBS) in New York State (NYS).MethodsThe NYS algorithm utilizes a first-tier molecular screen for TRECs (T-cell receptor excision circles), the absence of which is indicative of increased risk of immunodeficiency.ResultsDuring the first 2 years, 485,912 infants were screened for SCID. Repeat specimens were requested from 561 premature and 746 non-premature infants with low or borderline TRECs. A total of 531 infants were referred for diagnostic evaluation leading to identification of 10 infants with SCID and 87 with a clinically significant non-SCID abnormality based on flow cytometry or CBC results (positive predictive value 20.3 %). Nine infants were diagnosed with typical SCID and one with leaky SCID. SCID diagnoses included two patients with adenosine deaminase deficiency, three patients with typical and one with leaky IL2RG-related SCID, one patient with IL7Rα-related SCID, and three cases of typical SCID, etiology unknown. TRECs were undetectable in eight of the nine babies with typical SCID. Infants with other non-SCID conditions included 27 patients with a syndrome that included T-cell impairment, 18 of which had DiGeorge syndrome. Seventeen infants had T-cell impairment secondary to another clinically significant condition, and 13 were classified as 'other'. Among 30 infants classified as idiopathic T-cell lymphopenia, 11 have since resolved, and the remainder continues to be followed. One infant with undetectable TRECs had normal follow-up studies. Molecular studies revealed the presence of two changes in the infant's DNA.ConclusionsOverall, ten infants with SCID were identified during the first 2 years of screening in NYS, yielding an incidence of approximately 1 in 48,500 live births, which is consistent with the incidence observed by other states screening for SCID. The incidence of any clinically significant laboratory abnormality was approximately 1 in 5,000; both estimates are higher than estimates prior to the onset of newborn screening for SCID. Improvements to the NYS algorithm included the addition of a borderline category that reduced the proportion of infants referred for flow cytometric analysis, without decreasing sensitivity. We identified a large number of infants with abnormal TRECs and subsequent idiopathic T-cell lymphopenia. Long-term follow-up studies are needed to determine the prognosis and optimal treatment for this group of patients, some of whom may present with previously unrecognized, transient lymphopenia of infancy.

Project description:BackgroundThe aim of this study was to evaluate the knowledge, attitudes, and practices of migrant Syrian mothers regarding the neonatal screening programs (NSP) using in-depth interviews.MethodsWomen were selected from the Migrant Health Center (MHC), which is the primary health care institution in Istanbul. A translator who spoke Arabic, the native language of participants, used an open-ended, semi-structed interview form to guide face-to-face interviews with participants. Questions were about sociodemographic information, opinions about NSP's heel prick testing, diseases the test screens for, reasons for agreeing to the heel prick test, and challenges faced accessing health care services. The interviews were audio recorded. The translator then transcribed the audio recordings in Arabic and translated them into Turkish. The framework method for analysis of qualitative data was used to analyze transcripts of the interviews.ResultsForty-one migrant women were interviewed. Four themes were identified from analysis of transcripts of the interviews, regarding (1) knowledge of the NSP, (2) attitudes about the NSP, (3) practices that create barriers to accessing health care services, (4) practices to overcome barriers to accessing health care services. Most participants had no knowledge of the diseases the NSP tests for. A few participants had heard of congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), and spinal muscular atrophy (SMA), but they were not aware of the symptoms and effects of these diseases. Some participants thought the heel prick test benefited their child's health as it enables early diagnosis and treatment of diseases. All participants agree to heal prick testing after the birth of their most recent child. Participants noted the information and recommendations health care professionals provided influenced their decision to agree to the heel prick test. Most participants experienced language barriers when accessing health care services.ConclusionsMigrant women expressed a positive attitude toward the NSP. Future health care interventions regarding migrants should aim to reduce the negative experiences they encounter accessing health care, such as language barriers.

Dataset Information

Neonatal Screening for SCID: The French Experience.

Publications

Neonatal Screening for SCID: The French Experience.

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