Prenatal diagnosis of aneuploidies and microdelation/duplication in amniotic fluid and fetal aborted material by QF-PCR and MLPA analysis Article Swipe
Elif Arı
,
Öztürk Özdemir
,
Jelena Djurovic
,
Fatma Sılan
·
YOU?
·
· 2018
· Open Access
·
· DOI: https://doi.org/10.15761/bgg.1000136
YOU?
·
· 2018
· Open Access
·
· DOI: https://doi.org/10.15761/bgg.1000136
Objectives:The multiplex ligation-dependent probe amplification (MLPA) is fast, costeffective method that widely using in the prenatal screening.In the current study it was aimed to analyze the amnion and aborted materials by QF-PCR and MLPA techniques. Materials and Methods:Total genomic DNA from 67 amnion and 11 aborted materials were identified by QF-PCR and MLPA techniques and compared.We used two distinct MLPA kits, one for aneuploidy with 36 probes and other one for microdeletion/duplications with 50 probes. Results:The QF-PCR analysis of amnion samples were negative in 58 and positive in 9 cases, while the same analysis was negative in 2 and positive in 9 samples of aborted material, which was statistically different between two groups (p < 0.001).MLPA aneyploidi genotyped showed 57 negative and 10 positive results in amnion group, while in aborted material group this analysis was positive in all 11 cases (p < 0.001).MLPA microdeletion/duplication analysis was performed in 33 cases of amnion where results were negative in 11 and positive in 22 samples, while in aborted material this analysis was positive in all 11 samples.Microdeletions were detected in chromosomes 18 and 21 in two different samples that diagnosed as normal by QF-PCR technique in the current results.The rest of other samples were diagnosed as the same as QF-PCR technique. Conclusion:In conclusion, the current results confirmed that both MLPA kits can be used for the prenatal diagnosis successfully, but it is better used it in combination with other techniques for prenatal diagnosis.
Related Topics
Concepts
Multiplex ligation-dependent probe amplification
Amniotic fluid
Obstetrics
Gene duplication
Prenatal diagnosis
Aborted Fetus
Medicine
Fetus
Gynecology
Pregnancy
Biology
Genetics
Gene
Exon
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.15761/bgg.1000136
- https://www.oatext.com/pdf/BGG-3-136 (1).pdf
- OA Status
- diamond
- Cited By
- 3
- References
- 15
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4249879871
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4249879871Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.15761/bgg.1000136Digital Object Identifier
- Title
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Prenatal diagnosis of aneuploidies and microdelation/duplication in amniotic fluid and fetal aborted material by QF-PCR and MLPA analysisWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2018Year of publication
- Publication date
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2018-01-01Full publication date if available
- Authors
-
Elif Arı, Öztürk Özdemir, Jelena Djurovic, Fatma SılanList of authors in order
- Landing page
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https://doi.org/10.15761/bgg.1000136Publisher landing page
- PDF URL
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https://www.oatext.com/pdf/BGG-3-136 (1).pdfDirect link to full text PDF
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YesWhether a free full text is available
- OA status
-
diamondOpen access status per OpenAlex
- OA URL
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https://www.oatext.com/pdf/BGG-3-136 (1).pdfDirect OA link when available
- Concepts
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Multiplex ligation-dependent probe amplification, Amniotic fluid, Obstetrics, Gene duplication, Prenatal diagnosis, Aborted Fetus, Medicine, Fetus, Gynecology, Pregnancy, Biology, Genetics, Gene, ExonTop concepts (fields/topics) attached by OpenAlex
- Cited by
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3Total citation count in OpenAlex
- Citations by year (recent)
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2023: 2, 2021: 1Per-year citation counts (last 5 years)
- References (count)
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15Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.used | 56, 222, 232 |
| abstract_inverted_index.were | 47, 81, 155, 176, 202 |
| abstract_inverted_index.with | 64, 72, 236 |
| abstract_inverted_index.aimed | 22 |
| abstract_inverted_index.cases | 140, 150 |
| abstract_inverted_index.fast, | 7 |
| abstract_inverted_index.group | 132 |
| abstract_inverted_index.kits, | 60 |
| abstract_inverted_index.other | 68, 200, 237 |
| abstract_inverted_index.probe | 3 |
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| abstract_inverted_index.using | 12 |
| abstract_inverted_index.where | 153 |
| abstract_inverted_index.which | 106 |
| abstract_inverted_index.while | 90, 128, 164 |
| abstract_inverted_index.(MLPA) | 5 |
| abstract_inverted_index.QF-PCR | 31, 50, 76, 192, 208 |
| abstract_inverted_index.amnion | 26, 42, 79, 126, 152 |
| abstract_inverted_index.better | 231 |
| abstract_inverted_index.cases, | 89 |
| abstract_inverted_index.group, | 127 |
| abstract_inverted_index.groups | 112 |
| abstract_inverted_index.method | 9 |
| abstract_inverted_index.normal | 190 |
| abstract_inverted_index.probes | 66 |
| abstract_inverted_index.showed | 118 |
| abstract_inverted_index.widely | 11 |
| abstract_inverted_index.aborted | 28, 45, 104, 130, 166 |
| abstract_inverted_index.analyze | 24 |
| abstract_inverted_index.between | 110 |
| abstract_inverted_index.current | 18, 196, 213 |
| abstract_inverted_index.genomic | 38 |
| abstract_inverted_index.probes. | 74 |
| abstract_inverted_index.results | 124, 154, 214 |
| abstract_inverted_index.samples | 80, 102, 186, 201 |
| abstract_inverted_index.analysis | 77, 93, 134, 145, 169 |
| abstract_inverted_index.detected | 177 |
| abstract_inverted_index.distinct | 58 |
| abstract_inverted_index.material | 131, 167 |
| abstract_inverted_index.negative | 82, 95, 120, 156 |
| abstract_inverted_index.positive | 86, 99, 123, 136, 160, 171 |
| abstract_inverted_index.prenatal | 15, 225, 240 |
| abstract_inverted_index.samples, | 163 |
| abstract_inverted_index.Materials | 35 |
| abstract_inverted_index.confirmed | 215 |
| abstract_inverted_index.diagnosed | 188, 203 |
| abstract_inverted_index.diagnosis | 226 |
| abstract_inverted_index.different | 109, 185 |
| abstract_inverted_index.genotyped | 117 |
| abstract_inverted_index.material, | 105 |
| abstract_inverted_index.materials | 29, 46 |
| abstract_inverted_index.multiplex | 1 |
| abstract_inverted_index.performed | 147 |
| abstract_inverted_index.technique | 193 |
| abstract_inverted_index.aneuploidy | 63 |
| abstract_inverted_index.aneyploidi | 116 |
| abstract_inverted_index.diagnosis. | 241 |
| abstract_inverted_index.identified | 48 |
| abstract_inverted_index.technique. | 209 |
| abstract_inverted_index.techniques | 53, 238 |
| abstract_inverted_index.0.001).MLPA | 115, 143 |
| abstract_inverted_index.Results:The | 75 |
| abstract_inverted_index.chromosomes | 179 |
| abstract_inverted_index.combination | 235 |
| abstract_inverted_index.compared.We | 55 |
| abstract_inverted_index.conclusion, | 211 |
| abstract_inverted_index.results.The | 197 |
| abstract_inverted_index.techniques. | 34 |
| abstract_inverted_index.screening.In | 16 |
| abstract_inverted_index.Conclusion:In | 210 |
| abstract_inverted_index.Methods:Total | 37 |
| abstract_inverted_index.amplification | 4 |
| abstract_inverted_index.costeffective | 8 |
| abstract_inverted_index.statistically | 108 |
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| abstract_inverted_index.Objectives:The | 0 |
| abstract_inverted_index.ligation-dependent | 2 |
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| abstract_inverted_index.microdeletion/duplication | 144 |
| abstract_inverted_index.microdeletion/duplications | 71 |
| cited_by_percentile_year.max | 96 |
| cited_by_percentile_year.min | 89 |
| corresponding_author_ids | https://openalex.org/A5035675135 |
| countries_distinct_count | 2 |
| institutions_distinct_count | 4 |
| corresponding_institution_ids | https://openalex.org/I115953327 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/2 |
| sustainable_development_goals[0].score | 0.7900000214576721 |
| sustainable_development_goals[0].display_name | Zero hunger |
| citation_normalized_percentile.value | 0.74737831 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |