Is the first-trimester combined screening result associated with the phenotype of Down syndrome? A population-based cohort study
- Resource Type
- Authors
- Stina Lou; Lars Henning Pedersen; Ida Vogel; Ellen Steffensen
- Source
- Steffensen, E H, Pedersen, L H, Lou, S & Vogel, I 2023, ' Is the first-trimester combined screening result associated with the phenotype of Down syndrome? A population-based cohort study ', Prenatal Diagnosis, vol. 43, no. 1, pp. 51-61 . https://doi.org/10.1002/pd.6284
- Subject
- Cohort Studies
Phenotype
Pregnancy
Prenatal Diagnosis/methods
Down Syndrome/diagnosis
Heart Defects, Congenital/diagnosis
Obstetrics and Gynecology
Humans
Female
Genetics (clinical)
Ultrasonography, Prenatal
- Language
- English
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