Irish public would prefer legislation to protect Guthrie card archive rather than destroy it

BMJ ◽  
2013 ◽  
Vol 347 (sep04 1) ◽  
pp. f5232-f5232 ◽  
Author(s):  
J. Allen ◽  
P. McCarthy ◽  
E. M. Dempsey ◽  
J. O. Hourihane
Keyword(s):  
Guthrie Card

scholarly journals Recovery of Anti-Toxoplasma gondii Immunoglobulin M in Stored Guthrie Card Blood Spots

2009 ◽  
Vol 47 (8) ◽  
pp. 2626-2628 ◽  
Author(s):  
H.-K. Tan ◽  
E. Petersen ◽  
L. N. Moller ◽  
P. Phillips ◽  
E. C. Neto ◽  
...  
Keyword(s):  
Toxoplasma Gondii ◽  
Immunoglobulin M ◽  
Guthrie Card ◽  
Blood Spots

scholarly journals Enhanced direct amplification of Guthrie card DNA following selective elution of PCR inhibitors

1995 ◽  
Vol 23 (18) ◽  
pp. 3788-3789 ◽  
Author(s):  
Gregory S. Makowski ◽  
Esther L. Davis ◽  
Jaber Aslanzadeh ◽  
Sidney M. Hopfer
Keyword(s):  
Guthrie Card ◽  
Pcr Inhibitors ◽  
Direct Amplification

Loss of Non-Inherited Maternal MHC and Materno-Fetal Transmission of p190 Type BCR-ABL Leukemia.

Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 980-980
Author(s):  
Takeshi Isoda ◽  
Anthony Ford ◽  
Daisuke Tomizawa ◽  
Frederik W van Delft ◽  
David Gonzalez de Castro ◽  
...  
Keyword(s):  
Pleural Effusion ◽  
Genomic Sequence ◽  
Conflicts Of Interest ◽  
Lymphoblastic Leukemia ◽  
Uniparental Disomy ◽  
Leukemic Cells ◽  
Maternal Origin ◽  
Pediatric Leukemia ◽  
Guthrie Card ◽  
First Case

Abstract Abstract 980 Poster Board I-2 Introduction: Materno-fetal transmission of malignant clone is one of the rare causes of leukemia in infants. It has been recorded some 20 times over the past 100 years but definitive, genetic evidence for a maternal origin has been lacking. Here we present a detailed genetic analysis of materno-fetal transmission in a case with p190 type BCR-ABL leukemia. Patients course: A mother was found to have p190 type BCR-ABL positive acute lymphoblastic leukemia (ALL) one month after delivery of a baby, and died during induction therapy by uncontrolled bacillus cereus encephalitis. Her baby developed p190 type BCR-ABL positive B-precursor lymphoblastic lymphoma (B-LBL stage3 jaw tumor and pleural effusion) at 11-month old. Non-Hodgkin's lymphoma type chemotherapy according to Japanese Pediatric Leukemia/Lymphoma Study Group (JPLSG) ALB-NHL03, followed by Hyper-CVAD imatinib therapy without stem cell transplantation were given to her, leading to complete remission for more than 31 months. Material and methods: We first cloned the BCR-ABL genomic breakpoint region from the infant's pleural effusion (PE). The breakpoint was designated as a fusion between BCR intron 1 and ABL intron1. Then, We conducted Q-PCR by using BCR-ABL genomic breakpoint specific primer and sequencing. Fifteen polymorphic STR markers were amplified in the paternal blood DNA and Patient's PE and PB DNA samples using the Powerplex-16 system. HLA serotyping was by microdroplet lymphocyte cytotoxity. Genotyping was carried out using a reversed SSO HLA DNA typing method. The infant jaw tumor was further analyzed by Affymetrix high resolusion (250K) SNP arrays. Results: Short tandem repeat profiles indicated that the infant jaw tumor was, unambiguously, of maternal origin. Amplification of BCR-ABL genomic breakpoints on maternal leukemic cells and infant lymphoma cells revealed that these leukemia clones shared the same unique BCR-ABL genomic sequence, indicating a shared, single cell origin. Positivity of BCR-ABL specific PCR on Guthrie card blood spot also indicated that the leukemic clone was present in the blood at birth. Additionally the infant, maternal-derived leukemic cells had uniparental disomy of chromosome 6p with a deletion of non-inherited maternal MHC allele (NIMA), suggesting a mechanism for immune evasion in the baby. Conclusions: This is the first case with definite evidence of in utero materno-fetal transmission of mother's leukemic cells. This case also suggests that materno-feto transfer of leukemic cells is more common than as reflected in the frequency of clinically diagnosed cases, where the immuno-surveillance, predominantly directed against major HLA locus antigens, may be the principal constraint. Disclosures: No relevant conflicts of interest to declare.

In Utero Cltc-ALK Fusion In Hematopoietic Progenitor Cells As a First Step Of Leukemogenesis In Blastic Plasmacytoid Dendritic Cell Neoplasm

Blood ◽  
2013 ◽  
Vol 122 (21) ◽  
pp. 2587-2587
Author(s):  
Kiriko Tokuda ◽  
Minenori Eguchi-Ishimae ◽  
Mariko Eguchi ◽  
Eiichi Ishii
Keyword(s):  
Dendritic Cell ◽  
Progenitor Cells ◽  
Peripheral Blood ◽  
Fusion Gene ◽  
Plasmacytoid Dendritic Cell ◽  
In Utero ◽  
Guthrie Card ◽  
Myeloid Neoplasm ◽  
Cell Neoplasm ◽  
Blast Cells

Abstract Introduction Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a subtype of myeloid leukemia mainly affecting the elderly and often accompanied by cutaneous legions. It is a rare disease, and neither the genetic nor clonal origin of the disease is known. We report the first case of BPDCN with clathrin heavy chain (CLTC)-anaplastic lymphoma kinase (ALK) fusion gene. We performed a detailed analysis to understand the origin of the tumor cells and the leukemic process involved. Samples and Results Samples were collected from a female infant who was admitted under the diagnosis of hemophagocytic lymphohistiocytosis (HLH) at 1 month of age. One month later, leukemic blasts appeared in the peripheral blood showing karyotypic abnormality 46,XX,t(2;17;8)(p23;q23;p23). Fluorescence in situ hybridization with break apart probes covering the ALK gene revealed translocation of the 3’-ALK signal to der(17) and loss of the 5’ ALK signal on der(2). CLTC-ALK fusion was identified by direct sequencing of the RT-PCR product obtained from the peripheral blood specimen. Although HLH symptoms improved after one course of chemotherapy, blast cells re-appeared in the peripheral blood and bone marrow after 3 courses of chemotherapy, with a karyotype of 45, XX, t(2;17;8)(p23;q23;p23), -7. Multicolor flow cytometry showed the blast cells were weakly positive for CD4 and negative for CD3, and expression of CLTC-ALKwas confirmed in these cells. Some of the blasts were highly positive for CD123 and CD303, indicating the plasmacytoid dendritic cell phenotype and leading to the diagnosis of BPDCN. The rest of the blasts were positive for CD56 and weakly positive for CD123. Nearly half of this CD4+CD56+ population was also positive for monocytic marker, CD14. The possibility of in utero origin of the leukemic cells was tested by analyzing the presence of CLTC-ALK fusion in the Guthrie card. The genomic breakpoint of the CLTC-ALKfusion was determined by inverse PCR, and then 24 pieces of the Guthrie card containing the neonatal blood were tested for the existence of the cells carrying the same fusion breakpoint. The testing revealed the prenatal origin of the fusion gene. To explore the origin of leukemic transformation in the patient, the presence of the CLTC-ALK fusion gene was assessed in genomic DNA extracted from subpopulations sorted from the patient’s peripheral blood. As well as leukemic CD4+CD3- cells, most of the monocytes possessed the CLTC-ALK fusion gene, and a small portion of T cells, B cells and neutrophils were also positive for genomic CLTC-ALK fusion. Immature cells with high CD34 expression but without lineage markers separated from the peripheral blood were also positive for CLTC-ALKfusion. Conclusions The CLTC-ALK fusion gene was identified for the first time as the leukemia-promoting abnormality in an infant case of myeloid neoplasm BPDCN, indicating the tumorigenic potential of CLTC-ALK in myeloid progenitor cells. In addition, activated monocytes with the CLTC-ALK fusion might be responsible for the occurrence of HLH in the patient. Formation of the CLTC-ALK fusion was suggested to have occurred in a hematopoietic progenitor cells in utero, and the subsequent acquisition of monosomy 7, one of the myeloid lineage-oriented abnormalities, might have determined the cell fate to a myeloid neoplasm in this patient. Disclosures: No relevant conflicts of interest to declare.

Acquiring genome-wide gene expression profiles in Guthrie card blood spots using microarrays

2010 ◽  
Vol 61 (1) ◽  
pp. 1-6 ◽  
Author(s):  
Sok Kean Khoo ◽  
Karl Dykema ◽  
Naga Manjari Vadlapatla ◽  
David LaHaie ◽  
Saul Valle ◽  
...  
Keyword(s):  
Gene Expression ◽  
Expression Profiles ◽  
Gene Expression Profiles ◽  
Guthrie Card ◽  
Blood Spots ◽  
Genome Wide ◽  
Genome Wide Gene Expression

scholarly journals Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR

Blood ◽  
2012 ◽  
Vol 119 (11) ◽  
pp. 2552-2555 ◽  
Author(s):  
Stephan Borte ◽  
Ulrika von Döbeln ◽  
Anders Fasth ◽  
Ning Wang ◽  
Magdalena Janzi ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Ataxia Telangiectasia ◽  
Neonatal Screening ◽  
Severe Combined Immunodeficiency ◽  
Immunoglobulin A ◽  
Cell Receptor ◽  
Nijmegen Breakage Syndrome ◽  
Inborn Errors ◽  
Guthrie Card ◽  
Excision Circles

Abstract Severe combined immunodeficiency (SCID) and X-linked agammaglobulinemia (XLA) are inborn errors of immune function that require prompt diagnosis and treatment to prevent life-threatening infections. The lack of functional T or B lymphocytes in these diseases serves as a diagnostic criterion and can be applied to neonatal screening. A robust triplex PCR method for quantitation of T-cell receptor excision circles (TRECs) and κ-deleting recombination excision circles (KRECs), using a single Guthrie card punch, was developed and validated in a cohort of 2560 anonymized newborn screening cards and in 49 original stored Guthrie cards from patients diagnosed with SCID, XLA, ataxia-telangiectasia, Nijmegen-breakage-syndrome, common variable immunodeficiency, immunoglobulin A deficiency, or X-linked hyper-IgMsyndrome. Simultaneous measurement of TREC and KREC copy numbers in Guthrie card samples readily identified patients with SCID, XLA, ataxia-telangiectasia and Nijmegen-breakage-syndrome and thus facilitates effective newborn screening for severe immunodeficiency syndromes characterized by the absence of T or B cells.

In-Utero Origin of Childhood Acute Leukaemias.

Blood ◽  
2005 ◽  
Vol 106 (11) ◽  
pp. 1445-1445
Author(s):  
Tatiana Burjanivova ◽  
Jozef Madzo ◽  
Katerina Muzikova ◽  
Claus Meyer ◽  
Björn Schneider ◽  
...  
Keyword(s):  
Molecular Markers ◽  
Fusion Gene ◽  
In Utero ◽  
Patient Specific ◽  
Guthrie Card ◽  
Natal Origin ◽  
Negative Results ◽  
Leukaemic Cells ◽  
Childhood Aml ◽  
Guthrie Cards

Abstract While there is enough convincing evidence in childhood ALL, the data on the pre-natal origin in childhood AML are less comprehensive. Our study aimed to screen Guthrie cards (neonatal blood spots) of childhood acute myeloid leukaemia (AML) and acute lymphoblastic leukaemia (ALL) patients for the presence of their respective leukaemic markers. For the analysis we used PML/RARa, AML1/ETO and CBFb/MYH11 fusion genes, translocations of MLL gene and internal tandem duplication of Flt3 gene (Flt3/ITD) in patients with AML and TEL/AML1 fusion gene and immunoglobulin (Ig) and/or T-cell receptor (TCR) gene rearrangements in patients with ALL. These molecular markers on the DNA level present suitable candidates for backtracking of leukaemic cells in newborn material, because they are clonotypic and altogether their incidence is ~40% and >90% in AML and ALL, respectively. We screened Guthrie cards from 13 AML patients (4x PML/RARa,, 3x CBFb/MYH11, 2x AML1/ETO, 2xFlt3/ITD, 3x MLL rearrangement - MLL/AF6, MLL/AF9 and MLL/AF10) and from 15 ALL patients (13x Ig/TCR rearrangements, 3x TEL/AML1). One AML patient from our group had PML/RARa fusion gene together with Flt3/ITD, in 1 ALL patient we screened the Guthrie card for both Ig/TCR and TEL/AML1. We designed patient-specific PCR primers and we established nested PCR assay for each clonotypic sequence prior to the analysis of the corresponding Guthrie card. Assay specificity was determined using serial dilutions of patient DNA into the DNA of a healthy donor. The sensitivity of PCR was >=10(−4) in all patients. Therefore, this approach allowed us to detect the pre-leukaemic clone provided 1–10 positive cells were present on the Guthrie card. In three patients with ALL we reproducibly detected identical rearrangements both in the presentation sample and on the Guthrie card. The first patient harboured two independent rearrangements: TCR-delta Vd2/Dd3 and IgH VH3/JH5 and both were detectable on Guthrie card. In the second patient two PCR systems were optimised with adequate identical sensitivity: Igkappa Vk1/Kde and TCRgamma VgI/Jg1.3-2.3. However, only the latter detected pre-leukaemic cells on Guthrie card. The third patient had TEL/AML1 and we found this translocation on her Guthrie card. We did not find patient-specific molecular markers in any patient with AML. In the present study we confirmed the prenatal origin in 20 % of ALL patients. The negative results in the AML group can not disprove the theory that some childhood AML cases are also initiated in-utero. The negative results might be caused also by the fact that the age at presentation was higher in our AML group compared to ALL patients (median 7 and 3 years, respectively), the size of pre-leukaemic clone in AML might be below the sensitivity threshold of our approach, and Flt3/ITD could be of post-natal origin as recently suggested. However, our present data based on the largest cohort examined so far show that there is much less evidence for the pre-natal origin of childhood AML. Support: grants #7436 (Czech Ministry of Health) and #0021620813 (Czech Ministry of Education).

scholarly journals Guthrie card methylomics identifies temporally stable epialleles that are present at birth in humans

2012 ◽  
Vol 22 (11) ◽  
pp. 2138-2145 ◽  
Author(s):  
H. Beyan ◽  
T. A. Down ◽  
S. V. Ramagopalan ◽  
K. Uvebrant ◽  
A. Nilsson ◽  
...  
Keyword(s):  
Guthrie Card

805: Utilization of maternal blood on Guthrie card for first trimester screen for noninvasive fetal sex determination and RhD genotyping

2012 ◽  
Vol 206 (1) ◽  
pp. S354
Author(s):  
Yali Xiong ◽  
Indhu M. Prabhakaran ◽  
Eliezer J. Holtzman ◽  
Stacey Jeronis ◽  
Dan A. Liebermann ◽  
...  
Keyword(s):  
Sex Determination ◽  
First Trimester ◽  
Maternal Blood ◽  
Fetal Sex ◽  
Guthrie Card

Prenatal diagnosis for CDG Ia based on post-mortem molecular study of Guthrie card

2006 ◽  
Vol 87 (4) ◽  
pp. 379 ◽  
Author(s):  
Célia Nogueira ◽  
Dulce Quelhas ◽  
Laura Vilarinho
Keyword(s):  
Prenatal Diagnosis ◽  
Molecular Study ◽  
Post Mortem ◽  
Guthrie Card
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