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False-Positive Diagnosis of Congenital Heart Defects at First-Trimester Ultrasound: An Italian Multicentric Study
Silvia Andrietti1, Serena D'Agostino2, Marina Panarelli3
1Fetal and Perinatal Medicine Unit, IRCCS Policlinico San Martino, 16132 Genova, Italy.
Insights
First-trimester ultrasound screening for congenital heart defects (CHDs) by experienced operators may lead to a higher false-positive rate than anticipated. This finding necessitates careful discussion when CHDs are suspected early in pregnancy.
Area of Science:
- Maternal-fetal medicine
- Pediatric cardiology
- Diagnostic imaging
Background:
- First-trimester screening for fetal anomalies is crucial for early intervention.
- Congenital heart defects (CHDs) are a significant concern in prenatal diagnostics.
- Experienced operators performing fetal heart evaluations aim to improve diagnostic accuracy.
Purpose of the Study:
- To determine the rate of false-positive congenital heart defect (CHD) diagnoses from first-trimester fetal heart evaluations.
- To assess the impact of experienced operators on the accuracy of early CHD detection.
- To evaluate the diagnostic yield of extended first-trimester ultrasound protocols for fetal cardiac anomalies.
Main Methods:
- A multicenter retrospective study analyzed pregnant women with suspected CHDs during first-trimester aneuploidy screening.
- Fetal heart assessments were conducted by experienced obstetricians using an extended protocol including specific views and color Doppler.
- Suspected cases were followed up with fetal echocardiography at 16 weeks and/or 19-22 weeks gestation.
Main Results:
- Out of 4300 fetuses, 46 cases of suspected CHD were identified; 24 were excluded.
- Fetal echocardiography was performed on the remaining 22 cases.
- A significant proportion (13%) of initially suspected CHDs were found to be false positives upon further detailed examination.
Conclusions:
- First-trimester fetal heart ultrasound by experienced operators may have a higher false-positive rate than previously assumed.
- The findings highlight the importance of careful counseling and confirmation with fetal echocardiography when CHDs are suspected early.
- Accurate interpretation and communication of results are essential to manage parental expectations and guide subsequent care.
Abstract:
Objective. Our objective was to assess the proportion of false-positive CHD cases at the first-trimester evaluation of the fetal heart, performed by experienced operators. Methods. This multicenter retrospective study included of pregnant women with suspicion of CHDs during first-trimester screening for aneuploidies. In all cases, the fetal heart assessments were performed by obstetricians with extensive experience in first-trimester scanning, following an extended protocol proposed by SIEOG national guidelines, which included an axial view of the fetal abdomen and chest to assess visceral situs and evaluation of the four-chamber view (4CV) and three-vessel trachea view (3VTV) with color Doppler. In all suspected cases, fetal echocardiography was offered within 16 and/or at 19-22 weeks' gestation. Results. From a population of 4300 fetuses, 46 CHDs were suspected. Twenty-four cases were excluded from this analysis because the parents opted for early termination of the pregnancies due to associated structural and/or genetic anomalies. For the remaining 22, echocardiography was performed by 16 weeks in 14 cases (64%) and after 16 weeks in 8 cases. In 19 cases (86.4%), a fetal cardiologist confirmed the presence of a CHD. In three cases (13%), the cardiac anatomy was found to be normal at the fetal echocardiography and postnatally. Conclusions. This study shows that the proportion of false-positive cases at the first-trimester ultrasound examination of the fetal heart, performed by experienced operators, may carry a higher risk of false-positive diagnosis than expected. Therefore, this issue must be discussed in instances where a CHD is suspected at the first-trimester screening.
