ArticlePrenatal diagnosis2022
Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort.
Article in Prenatal diagnosis, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 7 citations in OpenAlex.
- Perinatal outcomes in 35 children with cartilage hair hypoplasia.Orphanet journal of rare diseases · 2026Article
- Antenatal unilateral upper limb acromesomelic dysplasia.Journal of ultrasound · 2026Article
- The Role of Prenatal Ultrasound and Added Value of Post-Mortem Radiographic Imaging With X-Ray and CT in Suspected Fetal Skeletal Dysplasia.Prenatal diagnosis · 2025Article
- Severe skeletal dysplasia caused by a novel FLNB gene mutation.BMJ case reports · 2024Article
- Associations between genomic aberrations, increased nuchal translucency, and pregnancy outcomes: a comprehensive analysis of 2,272 singleton pregnancies in women under 35.Frontiers in medicine · 2024Article
- Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort.Prenatal diagnosis · 2022Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
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Abstract
objectiveThis retrospective cohort study aims to describe the genetic spectrum of fetal skeletal dysplasias detected in a Finnish patient cohort and the diagnostic yield of various analysis methods used.
methodA total of 121 pregnancies with prenatally suspected or diagnosed skeletal dysplasia were analyzed between 2013 and 2020. Clinical details and findings from genetic testing were collected.
resultsAbnormal ultrasound triggered further testing in most cases. However, there were several cases with increased nuchal translucency and/or abnormal risk ratio in the first trimester combined screening as the initial finding. Further genetic testing was performed in 84/121 (69.4%) cases. A genetic diagnosis was confirmed in 36/84 (42.9%) cases. Half of the identified cases could be attributed to a founder mutation specific to the Finnish Disease Heritage, whereas the other half consisted of a variety of other genetic defects.
conclusionIn our patient cohort, the overall genetic spectrum of prenatally diagnosed skeletal dysplasias was wide. However, the impact of Finnish founder mutations was considerable, suggesting that the genetic spectrum of skeletal dysplasias may differ significantly between populations. This should be taken into consideration during the diagnostic process especially as initial ultrasound findings may be unspecific and the interpretation of ultrasound features is usually difficult.
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