ArticlePrenatal diagnosis2025
Phenotype-to-Genotype Description of Prenatal Suspected and Postnatal Discovered Upper Limb Anomalies: A Retrospective Cohort Study.
Article in Prenatal diagnosis, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.
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Who cites it
8 citing papers in PubMed, 1 synthesis or guideline pooled it.
- A Practical Prenatal Ultrasound Classification System for Lower Limb Anomalies-PRELLIM Classification.Prenatal diagnosis · 2025Pooled it
- Time of diagnosis of congenital upper limb anomalies: a cohort study of 703 patients from a local registry in Norway.Acta orthopaedica · 2026Article
- Genomic Landscape and Perinatal Outcomes of Fetal Polydactyly: A Retrospective Cohort Study Integrating CNV-seq and Trio-ES.Prenatal diagnosis · 2026Article
- Genetic analysis in fetuses with isolated clubfoot: diagnostic insights and added value.European journal of human genetics : EJHG · 2026Article
- Pain catastrophizing and its associated factors in parents of children after polydactyly or syndactyly surgery: a cross-sectional survey.Frontiers in pediatrics · 2026Article
- The Influence of the Introduction of Fetal Anomaly Scans on Pregnancy Terminations in Cases of Upper Limb Anomalies: A Retrospective Cohort Study From 2000 to 2023.Prenatal diagnosis · 2025Article
- From FGFR2 mutations to precision management: a review of prenatal diagnosis and multidisciplinary interventions in apert syndrome.Frontiers in pediatrics · 2025Review
- Prenatal Ultrasound Evaluation of Congenital Hand Anomalies: Toward a Standardized Approach.Journal of medical ultrasoundArticle
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo evaluate phenotype and genotype characteristics of fetuses and children with upper limb anomalies.
methodRetrospective cohort study of a prenatal and postnatal cohort with upper limb anomalies from January 2007 to December 2021 in a Fetal Medicine Unit. Prenatally on ultrasound suspected upper limb anomalies, such as transverse and longitudinal reduction defects, polydactyly, and syndactyly, and postnatally identified children referred to the Congenital Hand Team were evaluated separately.
resultsThe prenatal group included 199 pregnancies: 64 transverse and 19 longitudinal reduction defects, 103 polydactylies, and 13 cases with syndactyly. The majority of cases with longitudinal reduction defects (n = 10, 52.6%), polydactyly (n = 62, 60.2%), and syndactyly (n = 10, 76.9%) were non-isolated, as opposed to transverse reduction defects, which were generally isolated (n = 41, 64.1%). The postnatal cohort included 362 children with upper limb anomalies with 49 transverse and 22 longitudinal reduction defects, 226 polydactylies, and 65 syndactylies. Chromosomal or monogenic abnormalities were identified in 76/199 (38.2%) cases of the prenatal cohort and in 31/362 (8.6%) cases of the postnatal cohort.
conclusionPrenatal identification of minor defects of the digits is a challenge, with more postnatal than prenatal cases. The majority of cases with isolated anomalies in both groups had no underlying chromosomal or monogenic cause, nor were they associated with a syndrome, as compared to the non-isolated cases. Conducting structural anomaly scans and genetic counseling are crucial to assess the risk of genetic abnormalities.
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