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Front Immunol ; 10: 2406, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31695692


Severe combined immunodeficiency (SCID), the most severe form of T-cell immunodeficiency, can be screened at birth by quantifying T-cell receptor excision circles (TRECs) in dried blood spot (DBS) samples. Early detection of this condition speeds up the establishment of appropriate treatment and increases the patient's life expectancy. Newborn screening for SCID started in January 2017 in Catalonia, the first Spanish and European region to universally include this testing. The results obtained in the first 2 years of experience are evaluated here. All babies born between January 2017 and December 2018 were screened. TREC quantification in DBS (1.5 mm diameter) was performed with the Enlite Neonatal TREC kit from PerkinElmer (Turku, Finland). In 2018, the retest cutoff in the detection algorithm was updated based on the experience gained in the first year, and changed from 34 to 24 copies/µL. This decreased the retest rate from 3.34 to 1.4% (global retest rate, 2.4%), with a requested second sample rate of 0.23% and a positive detection rate of 0.02%. Lymphocyte phenotype (T, B, NK populations), expression of CD45RA/RO isoforms, percentage and intensity of TCR αß and TCR γδ, presence of HLA-DR+ T lymphocytes, and in vitro lymphocyte proliferation were studied in all patients by flow cytometry. Of 130,903 newborns screened, 30 tested positive, 15 of which were male. During the study period, one patient was diagnosed with SCID: incidence, 1 in 130,903 births in Catalonia. Thirteen patients had clinically significant T-cell lymphopenia (non-SCID) with an incidence of 1 in 10,069 newborns (43% of positive detections). Nine patients were considered false-positive cases because of an initially normal lymphocyte count with normalization of TRECs between 3 and 6 months of life, four infants had transient lymphopenia due to an initially low lymphocyte count with recovery in the following months, and three patients are still under study. The results obtained provide further evidence of the benefits of including this disease in newborn screening programs. Longer follow-up is needed to define the exact incidence of SCID in Catalonia.

Mol Genet Genomic Med ; 7(12): e1016, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31663686


BACKGROUND: The current scenario of newborn screening is changing as DNA studies are being included in the programs of several countries. Severe combined immunodeficiency (SCID) disorders can be detected using quantitative PCR assays to measure T-cell receptor excision circles (TRECs), a byproduct of correct T-cell development. However, in addition to SCID, other T-cell-deficient phenotypes such as 22q11.2 deletion syndrome 22q11.2 duplication syndrome, CHARGE syndrome, and trisomy 21 are detected. METHODS: We present our experience with the detection of 22q11.2 deletion syndrome and 22q11.2 duplication syndrome in a series of 103,903 newborns included in the newborn screening program of Catalonia (Spain). RESULTS: Thirty newborns tested were positive (low TREC levels) and five were found to have copy number variations at the 22q11 region (4 deletions and 1 duplication) when investigated with array comparative genomic hybridization technology and MLPA. CONCLUSION: Newborn screening for SCID enables detection of several conditions, such as 22q syndromes, which should be managed by prompt, proactive approaches with adequate counseling for families by a multidisciplinary team.

Rev. lab. clín ; 4(2): 84-89, abr.-jun. 2011.
Artigo em Espanhol | IBECS | ID: ibc-88076


La medida en suero de la concentración de tirotropina y tiroxina es la base para la evaluación bioquímica de la función tiroidea. Con frecuencia, el intervalo de referencia de la tirotropina sirve como cribado inicial para valorar la necesidad de añadir la medida de tiroxina. Este trabajo se ha realizado con el objetivo de mejorar la sensibilidad diagnóstica del cribado. Se seleccionaron todos los resultados de tirotropina y tiroxina solicitados de manera simultánea a pacientes de consultas externas: para la primera parte del estudio se usaron los del año 2008 (n=10.900) y para la segunda parte, los de pacientes del año 2009 sin seguimiento en el año previo (n=5.367). Se realizaron dos curvas ROC para delimitar el intervalo de decisión del algoritmo con una sensibilidad del 90% y se contabilizó el número de resultados falsos negativos obtenidos. Los intervalos de tirotropina obtenidos en el primer y segundo estudio fueron (2,11-3,50) mint.u./L y (2,04-3,41) mint.u/L respectivamente. En ambos estudios la sensibilidad aumentó aproximadamente de un 70% de media con el intervalo de referencia a un 90% con el intervalo del algoritmo. El número de falsos negativos se redujo de 75 a 30 en el primer caso, y de 37 a 13 en el segundo. La aplicación de un intervalo de tirotropina calculado para la evaluación de la función tiroidea, en pacientes ambulatorios con o sin seguimiento previo, supone un aumento en la sensibilidad diagnóstica, respecto al empleo del intervalo de referencia de tirotropina (AU)

The measurement of thyrotropin and thyroxine concentrations in serum is the basis of the biochemical evaluation of thyroid function. The reference interval of thyrotropin is frequently used as an initial screening to assess the need for thyroxine measurement. This study was carried out to obtain a different and more adjusted interval of thyrotropin, in order to improve the diagnostic sensitivity. All of the results of thyrotropin and thyroxine requested at the same time on outpatients were selected: for the first part of the study, those from year 2008 (n=10,900), and for the second part, those from 2009 with no follow-up in the previous year (n=5,367). Two ROC curves were used to define the algorithm decision interval with a sensitivity of 90% and the number of false negative results was calculated. The thyrotropin intervals obtained in the first and second studies were (2.11-3.50) mIU/L and (2.04-3.41) mIU/L, respectively. In both studies, the sensitivity increased approximately from an average of 70% to 90% of the confidence interval using the algorithm interval. The number of false negatives was reduced from 75 to 30 in the first case, and from 37 to 13 in the second case. The application of a calculated thyrotropin interval to assess thyroid function in outpatients with or without prior monitoring, leads to an increase of the diagnostic sensitivity with regard to the use of the thyrotropin reference interval (AU)

Humanos , Masculino , Feminino , Sensibilidade e Especificidade , Testes de Função Tireóidea/métodos , Testes de Função Tireóidea , Programas de Rastreamento/métodos , Testes de Função Tireóidea/tendências , Receptores da Tireotropina/análise , Tireotropina/análise , Tiroxina/análise , Tiroxina , Curva ROC