TUBITAK Destekli Projelerden Çıkan Yayınlar Topluluğu
Yayınlanmış 1 Ocak 2024 | Sürüm v1
Dergi makalesi Açık

Newborn screening for SCID: the very first prospective pilot study from Türkiye

Oluşturanlar

  • 1. Ankara Univ, Sch Med, Dept Pediat, Div Immunol & Allergy, Ankara, Turkiye
  • 2. Ankara Univ, Sch Med, Dept Forens Med, Forens Genet Lab, Ankara, Turkiye
  • 3. Hacettepe Univ, Sch Med, Dept Pediat, Div Immunol, Ankara, Turkiye
  • 4. Minist Hlth, Pediat & Adolescent Hlth Dept, Publ Hlth Gen Directorate, Ankara, Turkiye
  • 5. Intergen Genet & Rare Dis Diag Ctr, Ankara, Turkiye
  • 6. Necmettin Erbakan Univ, Meram Fac Med, Dept Pediat, Div Immunol & Allergy, TR-42080 Konya, Turkiye

Açıklama

Purpose The measurement of T-cell receptor excision circle (TREC) is used for newborn screening (NBS) in dried blood spot (DBS) samples from Guthrie card for severe combined immunodeficiency (SCID). Here, we report the results of first newborn screening pilot program for SCID conducted in T & uuml;rkiye. Methods The study was carried out together with Ankara University School of Medicine and The Ministry of Health, Public Health General Directorate, Pediatric and Adolescent Health Department. TREC measurements were performed in randomly selected Guthrie card samples obtained from 20253 babies born between October 2018 and October 2020. The TREC analyses were performed together with beta Actin (beta-Actin) via RT-PCR (Real Time Polymerase Chain Reaction). Results TRECs found to be normal (>= 15 copies/mu l) in 98,6% of the newborns (n: 19975) but low (<15 copies/l) in 1.4% (n:278) at the initial analyses. TRECs were retested in 278 suspected infants and found to be normal in 160 (0.8%) while low in 118 (0.58%). New DBS were obtained from the babies with low TRECs (new sample test). TRECs were normal in 108 (0.53%) of the new sample tests and low in 10 (0.049%). Two among 10 babies who had abnormal (undetectable) TRECs were diagnosed as SCID; ADA (P1) and RAG1 (P2) defects were confirmed respectively. They both received curative treatments [gene therapy (P1) and HSCT (P2)]. The remaining 6 of 8 newborns with abnormal TRECs were found normal after clinical and laboratory immune work-up, while medical records of other two revealed early postnatal death due to extreme prematurity. Conclusion In the light of this study the incidence of SCID was detected at least 1/10000 live births in T & uuml;rkiye. This study shows the feasibility and usefulness of initiating SCID screening in T & uuml;rkiye.

Dosyalar

bib-57127d03-cc7a-4f80-84b2-192877f163c1.txt

Dosyalar (371 Bytes)

Ad Boyut Hepisini indir
md5:7b57f90aff5b3a373981ff6e9818d916
371 Bytes Ön İzleme İndir