Inclusion of sex chromosomes in noninvasive prenatal testing in Asia, Australia, Europe and the USA: A survey study Article Swipe
Ellen Hollands Steffensen
,
Anne Skakkebæk
,
Kasper Gadsbøll
,
Olav Bjørn Petersen
,
Thomas Westover
,
Heather Strange
,
Ida Vogel
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1002/pd.6322
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1002/pd.6322
Objective To examine the extent to which sex chromosomes are included in current noninvasive prenatal testing (NIPT) and the reporting practices with respect to fetal chromosomal sex and sex chromosome aberrations (SCAs), in addition to an update on the general implementation of NIPT. Method A questionnaire addressing the research objectives was distributed by email to fetal medicine and clinical genetics experts in Asia, Australia, Europe and the USA. Results Guidelines on NIPT are available in the majority of the included countries. Not all existing guidelines address reporting of fetal chromosomal sex and SCAs. In most settings, NIPT frequently includes sex chromosomes (five Australian states, China, Hong Kong, Israel, Singapore, Thailand, USA and 23 of 31 European countries). This occurs most often by default or when parents wish to know fetal sex. In most settings, a potential SCA is reported by stating the risk hereof as “low” or “high” and/or by naming the SCA. Less than 50% of all pregnant women receive NIPT according to respondents from three Australian states, China, Israel, Singapore, Thailand and 24 of 31 European countries. However, this percentage, the genomic coverage of NIPT and its application as primary or secondary screening vary by setting. Conclusion In most of the studied countries/states, NIPT commonly includes sex chromosomes. The reporting practices concerning fetal chromosomal sex and SCAs are diverse and most commonly not addressed by guidelines. In general, NIPT is variably implemented across countries/states.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1002/pd.6322
- https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/pd.6322
- OA Status
- hybrid
- Cited By
- 21
- References
- 26
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4318191448
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4318191448Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1002/pd.6322Digital Object Identifier
- Title
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Inclusion of sex chromosomes in noninvasive prenatal testing in Asia, Australia, Europe and the USA: A survey studyWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2023Year of publication
- Publication date
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2023-01-27Full publication date if available
- Authors
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Ellen Hollands Steffensen, Anne Skakkebæk, Kasper Gadsbøll, Olav Bjørn Petersen, Thomas Westover, Heather Strange, Ida VogelList of authors in order
- Landing page
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https://doi.org/10.1002/pd.6322Publisher landing page
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/pd.6322Direct link to full text PDF
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YesWhether a free full text is available
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hybridOpen access status per OpenAlex
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/pd.6322Direct OA link when available
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Inclusion (mineral), Medicine, Obstetrics, Gynecology, Sociology, Gender studiesTop concepts (fields/topics) attached by OpenAlex
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21Total citation count in OpenAlex
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2025: 9, 2024: 7, 2023: 4, 2022: 1Per-year citation counts (last 5 years)
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26Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.update | 37 |
| abstract_inverted_index.(SCAs), | 32 |
| abstract_inverted_index.Israel, | 108, 171 |
| abstract_inverted_index.Results | 69 |
| abstract_inverted_index.address | 86 |
| abstract_inverted_index.current | 13 |
| abstract_inverted_index.default | 123 |
| abstract_inverted_index.diverse | 221 |
| abstract_inverted_index.examine | 3 |
| abstract_inverted_index.experts | 61 |
| abstract_inverted_index.general | 40 |
| abstract_inverted_index.genomic | 184 |
| abstract_inverted_index.parents | 126 |
| abstract_inverted_index.primary | 192 |
| abstract_inverted_index.receive | 161 |
| abstract_inverted_index.respect | 23 |
| abstract_inverted_index.states, | 104, 169 |
| abstract_inverted_index.stating | 141 |
| abstract_inverted_index.studied | 204 |
| abstract_inverted_index.testing | 16 |
| abstract_inverted_index.Abstract | 0 |
| abstract_inverted_index.European | 116, 178 |
| abstract_inverted_index.However, | 180 |
| abstract_inverted_index.Thailand | 173 |
| abstract_inverted_index.addition | 34 |
| abstract_inverted_index.clinical | 59 |
| abstract_inverted_index.commonly | 207, 224 |
| abstract_inverted_index.coverage | 185 |
| abstract_inverted_index.existing | 84 |
| abstract_inverted_index.general, | 230 |
| abstract_inverted_index.genetics | 60 |
| abstract_inverted_index.included | 11, 80 |
| abstract_inverted_index.includes | 99, 208 |
| abstract_inverted_index.majority | 77 |
| abstract_inverted_index.medicine | 57 |
| abstract_inverted_index.pregnant | 159 |
| abstract_inverted_index.prenatal | 15 |
| abstract_inverted_index.reported | 139 |
| abstract_inverted_index.research | 49 |
| abstract_inverted_index.setting. | 198 |
| abstract_inverted_index.variably | 233 |
| abstract_inverted_index.Objective | 1 |
| abstract_inverted_index.Thailand, | 110 |
| abstract_inverted_index.according | 163 |
| abstract_inverted_index.addressed | 226 |
| abstract_inverted_index.available | 74 |
| abstract_inverted_index.potential | 136 |
| abstract_inverted_index.practices | 21, 213 |
| abstract_inverted_index.reporting | 20, 87, 212 |
| abstract_inverted_index.screening | 195 |
| abstract_inverted_index.secondary | 194 |
| abstract_inverted_index.settings, | 96, 134 |
| abstract_inverted_index.“low” | 146 |
| abstract_inverted_index.Australia, | 64 |
| abstract_inverted_index.Australian | 103, 168 |
| abstract_inverted_index.Conclusion | 199 |
| abstract_inverted_index.Guidelines | 70 |
| abstract_inverted_index.Singapore, | 109, 172 |
| abstract_inverted_index.addressing | 47 |
| abstract_inverted_index.chromosome | 30 |
| abstract_inverted_index.concerning | 214 |
| abstract_inverted_index.countries. | 81, 179 |
| abstract_inverted_index.frequently | 98 |
| abstract_inverted_index.guidelines | 85 |
| abstract_inverted_index.objectives | 50 |
| abstract_inverted_index.“high” | 148 |
| abstract_inverted_index.aberrations | 31 |
| abstract_inverted_index.application | 190 |
| abstract_inverted_index.chromosomal | 26, 90, 216 |
| abstract_inverted_index.chromosomes | 9, 101 |
| abstract_inverted_index.countries). | 117 |
| abstract_inverted_index.distributed | 52 |
| abstract_inverted_index.guidelines. | 228 |
| abstract_inverted_index.implemented | 234 |
| abstract_inverted_index.noninvasive | 14 |
| abstract_inverted_index.percentage, | 182 |
| abstract_inverted_index.respondents | 165 |
| abstract_inverted_index.chromosomes. | 210 |
| abstract_inverted_index.questionnaire | 46 |
| abstract_inverted_index.implementation | 41 |
| abstract_inverted_index.countries/states, | 205 |
| abstract_inverted_index.countries/states. | 236 |
| cited_by_percentile_year.max | 99 |
| cited_by_percentile_year.min | 89 |
| corresponding_author_ids | https://openalex.org/A5003643956 |
| countries_distinct_count | 3 |
| institutions_distinct_count | 7 |
| corresponding_institution_ids | https://openalex.org/I204337017, https://openalex.org/I2802335433 |
| citation_normalized_percentile.value | 0.98925597 |
| citation_normalized_percentile.is_in_top_1_percent | True |
| citation_normalized_percentile.is_in_top_10_percent | True |