False positive morphologic diagnoses at the anomaly scan: marginal or real problem, a population-based cohort study
Anne Debost-Legrand1, Hélène Laurichesse-Delmas, Christine Francannet
1Service de Génétique Médicale, Centre Hospitalier Universitaire de Clermont-Ferrand, Clermont-Ferrand, France. alegrand@chu-clermontferrand.fr.
BMC Pregnancy and Childbirth
|March 25, 2014
Summary
Prenatal ultrasound screening for congenital malformations has an 8.8% false-positive rate and a 9.2% diagnostic misclassification rate. These inaccuracies can cause parental stress and unnecessary medical interventions.
Area of Science:
- Medical Diagnostics
- Prenatal Care
- Medical Imaging
Background:
- Congenital malformations affect 3-4% of newborns.
- Prenatal ultrasound screening detects these conditions.
- Misdiagnosis can lead to parental stress and iatrogenic interventions.
Purpose of the Study:
- To determine the false-positive rate of prenatal ultrasound screening for congenital malformations.
- To analyze these rates by anatomical system during the second and third trimesters.
Main Methods:
- Analysis of 526 fetuses diagnosed with malformations between 2006-2009 in Auvergne, France.
- Inclusion of cases confirmed by expert ultrasonographer follow-up.
- Calculation of false-positive and diagnostic misclassification rates overall and by anatomical system.
Main Results:
- Overall false-positive rate was 8.8%; diagnostic misclassification rate was 9.2%.
- Highest false-positive rates observed in renal and gastrointestinal malformations.
- Highest diagnostic misclassification rates noted for cerebral and cardiac malformations, with cardiac misclassification significantly higher than false positives.
Conclusions:
- Prenatal ultrasound screening for congenital malformations has a significant false-positive rate.
- These misdiagnoses contribute to parental psychological distress and overmedicalization of pregnancy and newborns.
