Prenatal diagnosis of fetal anomalies in a regional tertiary center: The role of a maternal fetal medicine unit—A review of 6,877 deliveries

Abstract

Objective: To determine the accuracy of anomalies detection and to evaluate the role of maternal-fetal medicine (MFM) specialists.

Methods: This was a retrospective study of birth defects. Patients were divided into: 1) if ultrasound was reviewed by MFM specialists; 2) Others, if reviewed by other ultrasonologists. Fisher's exact test or Pearson's χ² test were used for statistical analysis.

Results: Birth defects occurred in 204/6,877 (3%) neonates with 291 distinct birth defects. Prenatal diagnosis was possible in 181 (62%). In 16 (5.5%) late prenatal diagnosis was possible. MFM specialists correctly diagnosed 53/62 (85%) vs. 56/132 (42%) in Others (P < 0.001). Late diagnosis was possible in 12 cases of gastrointestinal anomalies, three of hydrocephaly and one of skeletal dysplasia; five were correctly diagnosed by MFM specialists and two by Others.

Conclusions: Involvement of ultrasonologists with particular expertise in fetal scanning may improve accuracy of prenatal diagnosis. A repeat third trimester ultrasound may be useful in detecting late-evolving anomalies.

Key Words:

• prenatal diagnosis
• ultrasound
• congenital anomalies