Prevalence of anomalies on the routine mid-trimester ultrasound: 3172 consecutive cases by a single maternal-fetal medicine specialist

Australas J Ultrasound Med. 2023 Nov 20;27(1):12-18. doi: 10.1002/ajum.12369. eCollection 2024 Feb.

Abstract

Introduction/purpose: The routine mid-trimester fetal anatomy ultrasound (FAS) is offered to every pregnant woman and remains critical in the detection of structural fetal anomalies. Our study aimed to determine the prevalence of abnormalities on routine FAS performed by a single operator, who is an experienced sub-specialist in maternal-fetal medicine.

Methods: A retrospective analysis of all routine FAS performed a tertiary private obstetric ultrasound practice in metropolitan Sydney over a 7-year period, August 2015-July 2022. An advanced ultrasound protocol including detailed cardiac views was used in every case. Second opinion scans for suspected abnormalities were excluded. Fetal anomalies were classified into major and minor, based on the likely need for neonatal intervention.

Results: Among 14,908 obstetric ultrasound examinations, routine FAS were performed on 3172 fetuses by a single operator. More than 99% of women had screened low-risk for fetal aneuploidy. Structural anomalies were identified in 5% (157/3172) of fetuses; the prevalence of major anomalies was 1% (30/3172). Almost 60% of total anomalies were either cardiac or renal. No differences were identified in anomaly rates for singletons compared with twins (5.0% vs. 4.2%; P = 0.75). The prevalence of placenta previa and vasa previa was 10% and 0.1%, respectively.

Discussion: The prevalence of fetal anomalies on routine FAS by a single operator using a standardised protocol was higher in our practice (5%) than in previously published studies. Although most anomalies were minor, the rate of major abnormality was 1%.

Conclusion: The routine mid-trimester FAS remains an integral component of prenatal ultrasound screening.

Keywords: anatomy; fetal; mid‐trimester; morphology; ultrasound.