Is the first‐trimester combined screening result associated with the phenotype of Down syndrome? A population‐based cohort study Article Swipe
Ellen Hollands Steffensen
,
Lars Henning Pedersen
,
Stina Lou
,
Ida Vogel
·
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.1002/pd.6284
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.1002/pd.6284
Objective To investigate if the Down syndrome phenotype differs according to the result of first‐trimester combined screening (FTS). Method We included all Down syndrome cases diagnosed by karyotype in pregnancy or after birth in Denmark during 2005–2018. We compared screen positive (odds ≥1:300) and screen negative (odds <1:300) cases as well as screen result subgroups with respect to anthropometrics, congenital malformations, childhood diseases, and hospitalization. Results Absolute measures of fetal and birth anthropometrics were comparable between groups. A prenatal malformation diagnosis was more prevalent among screen positive than screen negative cases. Analyses suggested that this could reflect a detection bias. Cases with a screen result of 1:2–1:10 had a higher probability of being diagnosed with a malformation prenatally and with severe congenital heart disease (CHD) postnatally compared with a result of 1:11–1:300. Screen positive cases more often had non‐severe CHD but less often a non‐heart malformation compared with screen negative cases, while proportions of severe CHD were similar in these groups. Data on hospitalizations showed inconsistent results. Conclusion The 1:300 screening threshold had limited or no value in predicting Down syndrome phenotype severity. In contrast, cases with a screen result between 1:2 and 1:10 may represent a more severe phenotype.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1002/pd.6284
- https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/pd.6284
- OA Status
- hybrid
- Cited By
- 4
- References
- 28
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4311500417
All OpenAlex metadata
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- OpenAlex ID
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https://openalex.org/W4311500417Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1002/pd.6284Digital Object Identifier
- Title
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Is the first‐trimester combined screening result associated with the phenotype of Down syndrome? A population‐based cohort studyWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
-
2022Year of publication
- Publication date
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2022-12-06Full publication date if available
- Authors
-
Ellen Hollands Steffensen, Lars Henning Pedersen, Stina Lou, Ida VogelList of authors in order
- Landing page
-
https://doi.org/10.1002/pd.6284Publisher landing page
- PDF URL
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/pd.6284Direct 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.6284Direct OA link when available
- Concepts
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Medicine, Down syndrome, Cohort, Phenotype, Cohort study, Obstetrics, Population, First trimester, Pregnancy, Pediatrics, Genetics, Internal medicine, Biology, Fetus, Environmental health, Psychiatry, GeneTop concepts (fields/topics) attached by OpenAlex
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4Total citation count in OpenAlex
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2023: 2, 2022: 2Per-year citation counts (last 5 years)
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28Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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