ArticlePrenatal diagnosis2023
Is the first-trimester combined screening result associated with the phenotype of Down syndrome? A population-based cohort study.
Article in Prenatal diagnosis, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed, 4 citations in OpenAlex.
- Embryonic statistical analyses reveal 2 growth phenotypes in mouse models of Down syndrome.American journal of obstetrics and gynecology · 2024Article
- Impact of a prenatal screening program on the Down syndrome phenotype: An interrupted time series analysis.Acta obstetricia et gynecologica Scandinavica · 2023Article
- Is the first-trimester combined screening result associated with the phenotype of Down syndrome? A population-based cohort study.Prenatal diagnosis · 2023Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
objectiveTo investigate if the Down syndrome phenotype differs according to the result of first-trimester combined screening (FTS).
methodWe 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.
resultsAbsolute 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.
conclusionThe 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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