scholarly journals OP35.10: What do pregnant couples want? The preferences of pregnant couples at increased risk for Down's syndrome who are offered a choice in prenatal diagnosis between the clinical outcomes of 5 Mb and 0,5 Mb whole genome SNP array analysis

2014 ◽  
Vol 44 (S1) ◽  
pp. 179-179
Author(s):  
M. Knapen ◽  
S.L. van der Steen ◽  
S. Riedijk ◽  
K. Diderich ◽  
M.S. Joosten ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Clinical Outcomes ◽  
Down's Syndrome ◽  
Snp Array ◽  
Down’S Syndrome ◽  
Whole Genome ◽  
Array Analysis ◽  
Increased Risk ◽  
Snp Array Analysis

scholarly journals OC28.03: Whole-genome SNP array analysis in routine prenatal diagnosis of chromosomal abnormalities - a one-year experience

2011 ◽  
Vol 38 (S1) ◽  
pp. 50-50
Author(s):  
M. Hynek ◽  
M. Trkova ◽  
V. Becvarova ◽  
J. Horacek ◽  
M. Putzova ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Chromosomal Abnormalities ◽  
Snp Array ◽  
Whole Genome ◽  
Array Analysis ◽  
Snp Array Analysis ◽  
One Year

scholarly journals Clinical Utility of SNP Array Analysis in Prenatal Diagnosis: A Cohort Study of 5000 Pregnancies

2020 ◽  
Vol 11 ◽  
Author(s):  
Jingjing Xiang ◽  
Yang Ding ◽  
Xiaoyan Song ◽  
Jun Mao ◽  
Minjuan Liu ◽  
...  
Keyword(s):  
Cohort Study ◽  
Prenatal Diagnosis ◽  
Clinical Utility ◽  
Snp Array ◽  
Array Analysis ◽  
Snp Array Analysis

Non-targeted whole genome 250K SNP array analysis as replacement for karyotyping in fetuses with structural ultrasound anomalies: evaluation of a one-year experience

2012 ◽  
Vol 32 (4) ◽  
pp. 362-370 ◽  
Author(s):  
Brigitte HW Faas ◽  
Ilse Feenstra ◽  
Alex J. Eggink ◽  
Angelique JA Kooper ◽  
Rolph Pfundt ◽  
...  
Keyword(s):  
Snp Array ◽  
Whole Genome ◽  
Array Analysis ◽  
Snp Array Analysis ◽  
One Year

Immunochemical quantification of Cu/Zn superoxide dismutase in prenatal diagnosis of Down's syndrome

1990 ◽  
Vol 85 (3) ◽  
pp. 362-366 ◽  
Author(s):  
Tomas Porstmann ◽  
Roselotte Wietschke ◽  
Günther Cobet ◽  
Katja Lorenz ◽  
Roland Grunow ◽  
...  
Keyword(s):  
Superoxide Dismutase ◽  
Prenatal Diagnosis ◽  
Down's Syndrome ◽  
Down’S Syndrome

scholarly journals CBFA2T3-GLIS2 Fusion Gene Cause Dismal Clinical Course in Acute Megakaryocytic Leukemia of Down Syndrome

Blood ◽  
2019 ◽  
Vol 134 (Supplement_1) ◽  
pp. 5184-5184
Author(s):  
Nao Takasugi ◽  
Kenichi Amano ◽  
Yasuo Kubota ◽  
Shota Kato ◽  
Yuichi Mitani ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Mutational Analysis ◽  
Clinical Course ◽  
Fusion Gene ◽  
Snp Array ◽  
Genomic Analysis ◽  
Array Analysis ◽  
Snp Array Analysis ◽  
Acute Megakaryocytic Leukemia ◽  
Gata1 Mutation

[Introduction] Acute megakaryocytic leukemia of Down syndrome (DS-AMKL) is characterized by excellent outcome with chemotherapy in contrast to non-Down syndrome-related AMKL (non-DS-AMKL). DS-AMKL and non-DS-AMKL have distinct genetic features which may underlie their different clinical characteristics. DS-AMKL is initiated by a GATA1 mutation in the transient abnormal myelopoiesis (TAM) phase and developed with further mutations of other regulators, while non-DS-AMKL is a heterogeneous group which occasionally carry chimeric oncogenes. CBFA2T3-GLIS2 fusion gene is identified in about 30% of children with non-DS-AMKL, and reported as a strong poor prognostic factor in pediatric AMKL. However, CBFA2T3-GLIS2 has never been reported in DS-AMKL and adult AMKL patients. We performed genomic analysis of DS-AMKL including atypical case with difficult clinical course. This is the first report of DS-AMKL harboring the CBFA2T3-GLIS2 fusion gene. [Case] The patient is a 1-year-old female of DS-AMKL with no prior episode of TAM. G-banding analysis revealed the karyotype both of the leukemic cells and normal tissue sample; 47, XX, +21. Chimeric genes of AML1-MTG8, CBFB-MYH, DEK-CAN, MLL-LTG4, MLL-LTG9, MLL-ENL and abnormalities of KIT and FLT3 were not detected. The chemotherapy according to the Japanese Pediatric Leukemia / Lymphoma Study Group AML-D05 protocol, gemtuzumab ozogamicin, IDA-FLAG regimen (idarubicin, fludarabine, cytarabine, filgrastim) and clofarabine-based regimen were tried, but all of them failed to achieve complete remission (CR). She underwent umbilical cord blood transplantation and relapsed on day 35 after transplantation. Once she showed a response to azacitidine, but finally she died on day 293 after transplantation. [Materials and Methods] We performed whole transcriptome sequencing (RNAseq), SNP array analysis, mutational analysis of GATA1 in 6 DS-AMKL samples, which included this refractory sample and five DS-AMKL samples with GATA1 mutations. To analyze gene expression profiling, we applied the hierarchical clustering method and principal component analysis. [Results] RNA sequencing analysis identified a fusion gene involving exon 10 of CBFA2T3 and exon 2 of GLIS2 gene in this refractory sample. This fusion gene was a result of a cryptic inversion on chromosome 16 and the in-frame fusion of both genes. The fusion transcript was validated by reverse transcription-polymerase chain reaction (RT-PCR) followed by Sanger sequencing. Though SNP array analysis confirmed 21 trisomy, it did not identify other copy number aberrations. PCR analysis did not detect GATA1 mutation in this refractory sample, which can be identified in other DS-AMKL samples. Expression analysis elucidated DS-AMKL with CBFA2T3-GLIS2 fusion had distinct expression profile from DS-AMKL with GATA1 mutations. [Discussion] CBFA2T3-GLIS2 fusion is the most common chimeric oncogene identified in non-DS-AMKL children, but has never been detected in DS-AMKL patients. Patients with non-DS-AMKL, especially holding CBFA2T3-GLIS2 fusion gene, have poorer outcomes than DS-AMKL. DS-AMKL patients generally have GATA1 mutations, show high sensitivity to chemotherapy, and can be treated with less intensive chemotherapy. However, our case had no GATA1 mutation and could not achieve CR despite intensive chemotherapy and transplantation. Thus, it is suggested this fusion gene caused the resistance to chemotherapies including hematopoietic stem cell transplantation in our case. Therefore, our case suggests patients with DS-AMKL should be surveyed genomic investigations including RNAseq and mutational analysis of GATA1 to identify their molecular biological subtypes before treatments are initiated. In case that fusion genes are detected in DS-AMKL patients, they must undergo highly intense chemotherapies, looking ahead to transplantation from the beginning of the treatment. Moreover, in case of harboring CBFA2T3-GLIS2 fusion gene, some potential therapies have been proposed, so that efficacy of such new therapies should be validated in a cell line-derived xenograft or patient-derived xenograft model. [Conclusion] DS-AMKL is generally known to show superior outcome, but DS-AMKL without GATA1 mutation and with CBFA2T3-GLIS2 fusion gene shows resistance to chemotherapies. For DS-AMKL patients, it is desirable to perform genomic analysis including RNAseq before chemotherapy. Disclosures No relevant conflicts of interest to declare.

Prenatal diagnosis of pectus excavatum and its relation to Down's syndrome

1992 ◽  
Vol 2 (6) ◽  
pp. 446-447 ◽  
Author(s):  
A. Salamanca ◽  
A. Girona ◽  
M. C. Padilla ◽  
R. M. Sabatel ◽  
F. Gonzales-Gomez
Keyword(s):  
Prenatal Diagnosis ◽  
Pectus Excavatum ◽  
Down's Syndrome ◽  
Down’S Syndrome
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