OC11.10: Diagnostic cytogenetics and cytogenomics confirmations following a cfDNA test with a high‐risk or inconclusive result Article Swipe
D. De Siero
,
Barbara Malvestiti
,
Livia Marcato
,
Jose Ferreira
,
Stefano Crippa
,
Vito Quaranta
,
Silvia Saragozza
,
Beatrice Grimi
,
Viviane Zanatta
,
Cristina Agrati
,
Elena Repetti
,
Francesca Malvestiti
,
Francesca Romana Grati
·
YOU?
·
· 2020
· Open Access
·
· DOI: https://doi.org/10.1002/uog.22285
YOU?
·
· 2020
· Open Access
·
· DOI: https://doi.org/10.1002/uog.22285
Retrospective analysis of diagnostic results on samples submitted to a single medical genetics laboratory for confirmatory studies after a high-risk or inconclusive cfDNA test. Samples include POCs, CVS, AF and newborn blood received from different Italian private and public clinics between 2014 and 2019. 270 confirmatory diagnostic results were collected with an indication of high-risk cfDNA test (n = 246) or no result (n = 24). 71.9% of confirmatory tests were performed on AF. Of the total CVS and AF, T21 high-risk cases accounted for 70.4% and 36.6% of them, respectively. The overall PPV is 68%: For T21 98%, T18 68%, T13 20%, XXX and XXY 57%, XYY 88%, 22q11.2DS 17%, MX 10% and rare imbalances 0%. A statistically higher PPV was observed when CVS rather than AF is performed (p = 0.0084). 1/24 cases with no results showed an abnormal karyotype [46,XX,i(13)(q10)]. The most common reason for undergoing an invasive procedure following a high-risk cfDNA test results is because of a high chance of T21 (45.2%). Highest PPVs (≥90%) were in cases with T21 and XYY result. Biological confounding factors affecting cfDNA test specificity (e.g.: CPMs, vanishing twin, high CG content and maternal constitutional and somatic chromosome abnormalities) can explain the unsatisfactory PPVs for T13, MX and rare imbalances. The statistically higher PPV of CVS may be explained by the detection of US scan anomalies after cfDNA test driving the choice on CVS. Patients and practitioners should be aware of the limitations of the screening for rare conditions. These includes not only an unsatisfactory PPVs but also unknown NPVs.
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Metadata
- Type
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- Language
- en
- Landing Page
- https://doi.org/10.1002/uog.22285
- https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/uog.22285
- OA Status
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- Related Works
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- OpenAlex ID
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All OpenAlex metadata
Raw OpenAlex JSON
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https://openalex.org/W3158635112Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1002/uog.22285Digital Object Identifier
- Title
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OC11.10: Diagnostic cytogenetics and cytogenomics confirmations following a cfDNA test with a high‐risk or inconclusive resultWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2020Year of publication
- Publication date
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2020-10-01Full publication date if available
- Authors
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D. De Siero, Barbara Malvestiti, Livia Marcato, Jose Ferreira, Stefano Crippa, Vito Quaranta, Silvia Saragozza, Beatrice Grimi, Viviane Zanatta, Cristina Agrati, Elena Repetti, Francesca Malvestiti, Francesca Romana GratiList of authors in order
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https://doi.org/10.1002/uog.22285Publisher landing page
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/uog.22285Direct link to full text PDF
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YesWhether a free full text is available
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bronzeOpen access status per OpenAlex
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/uog.22285Direct OA link when available
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Medicine, Confounding, Genetic testing, Internal medicine, GynecologyTop concepts (fields/topics) attached by OpenAlex
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0Total citation count in OpenAlex
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10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.10% | 112 |
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| abstract_inverted_index.AF, | 79 |
| abstract_inverted_index.AF. | 73 |
| abstract_inverted_index.CVS | 77, 124, 215 |
| abstract_inverted_index.For | 96 |
| abstract_inverted_index.PPV | 93, 120, 213 |
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| abstract_inverted_index.T18 | 99 |
| abstract_inverted_index.T21 | 80, 97, 165, 174 |
| abstract_inverted_index.The | 91, 143, 210 |
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| abstract_inverted_index.XXY | 105 |
| abstract_inverted_index.XYY | 107, 176 |
| abstract_inverted_index.and | 29, 37, 42, 78, 86, 104, 113, 175, 192, 195, 207, 235 |
| abstract_inverted_index.but | 256 |
| abstract_inverted_index.can | 199 |
| abstract_inverted_index.for | 14, 84, 147, 204, 246 |
| abstract_inverted_index.may | 216 |
| abstract_inverted_index.not | 251 |
| abstract_inverted_index.the | 75, 201, 220, 230, 241, 244 |
| abstract_inverted_index.was | 121 |
| abstract_inverted_index.1/24 | 133 |
| abstract_inverted_index.17%, | 110 |
| abstract_inverted_index.20%, | 102 |
| abstract_inverted_index.2014 | 41 |
| abstract_inverted_index.24). | 65 |
| abstract_inverted_index.246) | 59 |
| abstract_inverted_index.57%, | 106 |
| abstract_inverted_index.68%, | 100 |
| abstract_inverted_index.68%: | 95 |
| abstract_inverted_index.88%, | 108 |
| abstract_inverted_index.98%, | 98 |
| abstract_inverted_index.CVS, | 27 |
| abstract_inverted_index.CVS. | 233 |
| abstract_inverted_index.PPVs | 168, 203, 255 |
| abstract_inverted_index.T13, | 205 |
| abstract_inverted_index.also | 257 |
| abstract_inverted_index.from | 33 |
| abstract_inverted_index.high | 162, 189 |
| abstract_inverted_index.most | 144 |
| abstract_inverted_index.only | 252 |
| abstract_inverted_index.rare | 114, 208, 247 |
| abstract_inverted_index.scan | 224 |
| abstract_inverted_index.test | 56, 156, 183, 228 |
| abstract_inverted_index.than | 126 |
| abstract_inverted_index.were | 48, 70, 170 |
| abstract_inverted_index.when | 123 |
| abstract_inverted_index.with | 50, 135, 173 |
| abstract_inverted_index.2019. | 43 |
| abstract_inverted_index.36.6% | 87 |
| abstract_inverted_index.70.4% | 85 |
| abstract_inverted_index.71.9% | 66 |
| abstract_inverted_index.CPMs, | 186 |
| abstract_inverted_index.NPVs. | 259 |
| abstract_inverted_index.POCs, | 26 |
| abstract_inverted_index.These | 249 |
| abstract_inverted_index.after | 17, 226 |
| abstract_inverted_index.aware | 239 |
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| abstract_inverted_index.cases | 82, 134, 172 |
| abstract_inverted_index.cfDNA | 22, 55, 155, 182, 227 |
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| abstract_inverted_index.them, | 89 |
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| abstract_inverted_index.between | 40 |
| abstract_inverted_index.clinics | 39 |
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| abstract_inverted_index.explain | 200 |
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| abstract_inverted_index.private | 36 |
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| abstract_inverted_index.somatic | 196 |
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| abstract_inverted_index.unknown | 258 |
| abstract_inverted_index.(45.2%). | 166 |
| abstract_inverted_index.(≥90%) | 169 |
| abstract_inverted_index.0.0084). | 132 |
| abstract_inverted_index.Patients | 234 |
| abstract_inverted_index.abnormal | 140 |
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| abstract_inverted_index.maternal | 193 |
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| abstract_inverted_index.22q11.2DS | 109 |
| abstract_inverted_index.accounted | 83 |
| abstract_inverted_index.affecting | 181 |
| abstract_inverted_index.anomalies | 225 |
| abstract_inverted_index.collected | 49 |
| abstract_inverted_index.detection | 221 |
| abstract_inverted_index.different | 34 |
| abstract_inverted_index.explained | 218 |
| abstract_inverted_index.following | 152 |
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| abstract_inverted_index.karyotype | 141 |
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| abstract_inverted_index.procedure | 151 |
| abstract_inverted_index.screening | 245 |
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| abstract_inverted_index.vanishing | 187 |
| abstract_inverted_index.Biological | 178 |
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| abstract_inverted_index.imbalances. | 209 |
| abstract_inverted_index.limitations | 242 |
| abstract_inverted_index.specificity | 184 |
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| abstract_inverted_index.[46,XX,i(13)(q10)]. | 142 |
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| countries_distinct_count | 1 |
| institutions_distinct_count | 13 |
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| citation_normalized_percentile.is_in_top_10_percent | False |