Time of diagnosis of congenital upper limb anomalies: a cohort study of 703 patients from a local registry in Norway.

Abstract

Background and purpose:  Several European countries offer nationwide prenatal ultrasound screening for fetal anomalies. Few studies have examined prenatal detection of upper limb anomalies, and existing reports originate exclusively from high‑volume centers outside Europe. We aimed to assess the timing of diagnosis in patients with all Oberg-Manske-Tonkin diagnoses except tumorous dysplasias referred to the largest specialized unit in Norway, investigate prenatal detection rates, and explore associations between patient‑ and hospital‑related factors and prenatal detection.

Methods:  We extracted data on timing of diagnosis according to Oberg-Manske-Tonkin phenotype, and patient- and hospital-related variables from the CULA (congenital upper limb anomaly) North Oslo Registry from 2018 to 2025. For patients with anomalies detected prenatally or at birth, we analyzed associations between patient- and hospital-related factors and prenatal detection rate by multivariable logistic regression.

Results:  703 consecutive patients were enrolled. 402 (57%) patients had their anomaly detected at birth and 252 (36%) later in life. Prenatal ultrasonography detected the upper limb anomaly in 49 (7.0%) of the patients. Among 426 patients with anomalies visible at birth whose mothers had at least 1 prenatal ultrasound scan, the examination detected the anomaly in 49 (12%). Among phenotypes observed in more than 5 patients, congenital contractures (amyoplasia, distal arthrogryposis), reduction deficiencies (transverse, radial, ulnar), and ulnar polydactyly had the highest detection rates. Prenatally detected cases were more often born in university hospitals and more frequently had bilateral upper limb involvement and/or associated anomalies than those diagnosed at birth.

Conclusion:  7.0% of the upper limb anomalies were detected prenatally, 57% at birth, and 36% later in life. Prenatal detection rates were lower than those reported from larger non-European hand units, likely due to the inclusion of all upper limb anomaly diagnoses in this study and Norway's decentralized prenatal care system.