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Updated: Apr 5, 2026
Murine Fetal Echocardiography
Published on: February 15, 2013
Prenatal ultrasound: detection and diagnosis of limb abnormalities
Liam Kevern1, David Warwick, Diana Wellesley
1Department of Orthopaedic Surgery, Southampton University Hospitals NHS Trust, Southampton, England.
Insights
Prenatal ultrasound scans detect only 25% of congenital limb abnormalities. While diagnostic accuracy is high (84%), many limb differences are missed before birth, impacting orthopedic treatment.
Area of Science:
- Medical imaging
- Orthopedics
- Prenatal diagnosis
Background:
- Congenital limb abnormalities often require orthopedic intervention.
- Routine prenatal ultrasound screening is standard practice.
- Many limb abnormalities are not identified during prenatal scans.
Purpose of the Study:
- To evaluate the detection rate of congenital limb abnormalities via prenatal ultrasound.
- To assess the diagnostic accuracy of prenatal scans for these conditions.
Main Methods:
- Retrospective analysis of 26,203 babies undergoing prenatal scans.
- Review of 67 cases from a regional anomaly register with prenatal diagnoses.
- Comparison of prenatal findings with postnatal diagnoses.
Main Results:
- Prenatal ultrasound detected 15 out of 60 limb abnormalities (sensitivity 25%).
- The positive predictive value of prenatal diagnosis was 84% (56 out of 67 confirmed cases).
Conclusions:
- Prenatal ultrasound has a low sensitivity for detecting congenital limb abnormalities.
- While prenatal diagnoses are often accurate, a significant number of limb differences are missed prenatally.
Abstract:
Many cases of congenital limb abnormalities referred for orthopaedic treatment are not diagnosed prenatally, despite routine ultrasound scanning. The authors aimed to study the detection rate and diagnostic accuracy of prenatal scans. Data concerning two groups of patients were collected. First, the authors followed-up 26,203 babies that had been scanned prenatally. Sixty had limb abnormalities; 15 of the abnormalities were detected prenatally (sensitivity 25%, 95% confidence interval 14%-36%). Second, the authors studied 67 cases from the Wessex Antenatally Detected Anomalies Register that had been identified prenatally. The diagnosis was confirmed postnatally in 56 cases (positive predictive value 84%, 95% confidence interval 75%-93%).
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