Implementation of arrays in first trimester prenatal diagnosis
OBJECTIVE: Array technology in chorionic villus sampling (CVS) - analysis of clinical benefit and a proposal of a more effective 1st trimester genetic testing policy.
DESIGN: Retrospective study.
SETTING: Gennet, Center of Medical Genetics and Reproductive Medicine, Prague.
MATERIAL AND METHODS: Total of 913 CVS were performed at Gennet between 2010-2014. All 913 samples were tested by QF-PCR rapid test for aneuploidy of chromosomes 13, 18, 21, X and Y and karyotyping following standard long term culture. Microarray analysis (Illumina HumanCytoSNP12 v2.1) was performed on 179 samples with normal result from both - QF-PCR and karyotyping.
RESULTS: At 229 samples the common chromosomal aneuploidy was detected using rapid QF-PCR (25% from 911 successful rapid tests). Conventional karyotyping revealed 239 unbalanced chromosome aberrations (27% from 897 successful cultivations). 227/239 (95%) positive karyotypes confirmed QF-PCR finding of common aneuploidies. 10 unbalanced chromosome aberrations were not covered by rapid QF-PCR test. Microarray analysis of samples with normal result from both- QF-PCR and karyotyping- revealed 13 clinically relevant chromosome aberrations (7.5%).
CONCLUSION: New policy for chorionic villi testing at Gennet was established. Based on evaluation of the results of karyotyping, array and QF-PCR and analysis of published data we decided to replace karyotyping by microarray analysis in all cases of foetuses with normal results from QF-PCR. More effective detection of pathological and clinically relevant chromosome aberrations in examined foetuses is expected.
| Medienart: |
Artikel |
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| Erscheinungsjahr: |
2015 |
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| Erschienen: |
2015 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:80 |
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| Enthalten in: |
Ceska gynekologie - 80(2015), 3 vom: 30. Juni, Seite 176-80 |
| Sprache: |
Tschechisch |
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| Weiterer Titel: |
Implementace array vyšetření do prenatální diagnostiky v I. trimestru |
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| Beteiligte Personen: |
Trková, M [VerfasserIn] |
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| Themen: |
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| Anmerkungen: |
Date Completed 16.10.2015 Date Revised 18.03.2019 published: Print Citation Status MEDLINE |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM250081725 |
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| 245 | 1 | 0 | |a Implementation of arrays in first trimester prenatal diagnosis |
| 246 | 3 | 3 | |a Implementace array vyšetření do prenatální diagnostiky v I. trimestru |
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| 500 | |a Date Revised 18.03.2019 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a OBJECTIVE: Array technology in chorionic villus sampling (CVS) - analysis of clinical benefit and a proposal of a more effective 1st trimester genetic testing policy | ||
| 520 | |a DESIGN: Retrospective study | ||
| 520 | |a SETTING: Gennet, Center of Medical Genetics and Reproductive Medicine, Prague | ||
| 520 | |a MATERIAL AND METHODS: Total of 913 CVS were performed at Gennet between 2010-2014. All 913 samples were tested by QF-PCR rapid test for aneuploidy of chromosomes 13, 18, 21, X and Y and karyotyping following standard long term culture. Microarray analysis (Illumina HumanCytoSNP12 v2.1) was performed on 179 samples with normal result from both - QF-PCR and karyotyping | ||
| 520 | |a RESULTS: At 229 samples the common chromosomal aneuploidy was detected using rapid QF-PCR (25% from 911 successful rapid tests). Conventional karyotyping revealed 239 unbalanced chromosome aberrations (27% from 897 successful cultivations). 227/239 (95%) positive karyotypes confirmed QF-PCR finding of common aneuploidies. 10 unbalanced chromosome aberrations were not covered by rapid QF-PCR test. Microarray analysis of samples with normal result from both- QF-PCR and karyotyping- revealed 13 clinically relevant chromosome aberrations (7.5%) | ||
| 520 | |a CONCLUSION: New policy for chorionic villi testing at Gennet was established. Based on evaluation of the results of karyotyping, array and QF-PCR and analysis of published data we decided to replace karyotyping by microarray analysis in all cases of foetuses with normal results from QF-PCR. More effective detection of pathological and clinically relevant chromosome aberrations in examined foetuses is expected | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a CVS | |
| 650 | 4 | |a QF-PCR | |
| 650 | 4 | |a array. | |
| 650 | 4 | |a karyotype | |
| 650 | 4 | |a prenatal diagnosis | |
| 700 | 1 | |a Putzová, M |e verfasserin |4 aut | |
| 700 | 1 | |a Bečvářová, V |e verfasserin |4 aut | |
| 700 | 1 | |a Horáček, J |e verfasserin |4 aut | |
| 700 | 1 | |a Soldátová, I |e verfasserin |4 aut | |
| 700 | 1 | |a Krautová, L |e verfasserin |4 aut | |
| 700 | 1 | |a Sekowská, M |e verfasserin |4 aut | |
| 700 | 1 | |a Hodačová, J |e verfasserin |4 aut | |
| 700 | 1 | |a Hnyková, L |e verfasserin |4 aut | |
| 700 | 1 | |a Hlavová, E |e verfasserin |4 aut | |
| 700 | 1 | |a Smetanová, D |e verfasserin |4 aut | |
| 700 | 1 | |a Stejskal, D |e verfasserin |4 aut | |
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