prikaz prve stranice dokumenta Combination of QF‐PCR and aCGH is an efficient diagnostic strategy for the detection of chromosome aberrations in recurrent miscarriage
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Scientific paper - Original scientific paper
Combination of QF‐PCR and aCGH is an efficient diagnostic strategy for the detection of chromosome aberrations in recurrent miscarriage
Molecular Genetics & Genomic Medicine, (2019); e980. https://doi.org/10.1002/mgg3.980
Lovrečić, Luca; Pereza, Nina; Jaklič, Helena; Ostojić, Saša; Peterlin, Borut

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Lovrečić, L., Pereza, N., Jaklič, H., Ostojić, S. & Peterlin, B. (2019). Combination of QF‐PCR and aCGH is an efficient diagnostic strategy for the detection of chromosome aberrations in recurrent miscarriage. Molecular Genetics & Genomic Medicine. doi: 10.1002/mgg3.980

Lovrečić, Luca, et al. "Combination of QF‐PCR and aCGH is an efficient diagnostic strategy for the detection of chromosome aberrations in recurrent miscarriage." Molecular Genetics & Genomic Medicine, 2019. https://doi.org/10.1002/mgg3.980

Lovrečić, Luca, Nina Pereza, Helena Jaklič, Saša Ostojić and Borut Peterlin. "Combination of QF‐PCR and aCGH is an efficient diagnostic strategy for the detection of chromosome aberrations in recurrent miscarriage." Molecular Genetics & Genomic Medicine (2019). https://doi.org/10.1002/mgg3.980

Lovrečić, L., et al. (2019) 'Combination of QF‐PCR and aCGH is an efficient diagnostic strategy for the detection of chromosome aberrations in recurrent miscarriage', Molecular Genetics & Genomic Medicine. doi: 10.1002/mgg3.980

Lovrečić L, Pereza N, Jaklič H, Ostojić S, Peterlin B. Combination of QF‐PCR and aCGH is an efficient diagnostic strategy for the detection of chromosome aberrations in recurrent miscarriage. Molecular Genetics & Genomic Medicine [Internet]. 2019 October 23 [cited 2024 December 02]. doi: 10.1002/mgg3.980

L. Lovrečić, N. Pereza, H. Jaklič, S. Ostojić and B. Peterlin, "Combination of QF‐PCR and aCGH is an efficient diagnostic strategy for the detection of chromosome aberrations in recurrent miscarriage", Molecular Genetics & Genomic Medicine, October 2019. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:184:593727. [Accessed: 02 December 2024]

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Metadata
Title (english)Combination of QF‐PCR and aCGH is an efficient diagnostic strategy for the detection of chromosome aberrations in recurrent miscarriage
AuthorLuca Lovrečić
AuthorNina Pereza
AuthorHelena Jaklič
AuthorSaša Ostojić
AuthorBorut Peterlin
Author's institutionUniversity of Rijeka
Faculty of Medicine
(Department of Biology and Medical Genetics)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Abstract (english)
Abstract BACKGROUND: Our aim was to conduct a comprehensive genetic evaluation using the combination of QF-PCR (quantitative fluorescence polymerase chain reaction) and aCGH (array comparative genomic hybridization) for the detection of the frequency and type of chromosome aberrations in recurrent miscarriage (RM) in the clinical setting. METHODS: This retrospective study was conducted on 73 first-trimester products of conception (POC) between September 2014 and February 2017. The POCs were collected from 73 women with at least one previous miscarriage and analyzed for chromosomal anomalies using QF-PCR and aCGH as part of the routine clinical evaluation. RESULTS: Chromosome aberrations were detected in 52/73 POCs (71.2%), of which 41 (56.2%) were identified by QF-PCR and an additional 11 (15.1%) by aCGH. Numerical aberrations constituted 92.3% of abnormalities, with trisomies as the most common subtype (72.9%). Causative structural aberrations were found in three samples (5.8%). The frequency of chromosome aberrations was not dependent on the number of previous miscarriages, whereas it significantly increased with advanced maternal age. CONCLUSION: Our results confirm that chromosome aberrations are the most common cause of RM and that QF-PCR and aCGH combination should be included in the routine genetic analysis of POCs of couples with miscarriage
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusAccepted
Peer reviewPeer review - international
Publication versionPublished version
Journal titleMolecular Genetics & Genomic Medicine
Numberinge980
p-ISSN2324-9269
e-ISSN2324-9269
DOIhttps://doi.org/10.1002/mgg3.980
URN:NBNurn:nbn:hr:184:593727
Publication2019-10-23
Document URLhttps://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.980
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution-NonCommercial 4.0 International (CC BY-NC 4.0) icon
Created on2019-11-20 10:02:35