Accuracy of the Standardized Early Fetal Heart Assessment in Excluding Major Congenital Heart Defects in High-Risk Population


Accuracy of the Standardized Early Fetal Heart Assessment in Excluding Major Congenital Heart Defects in High-Risk Population: A Single-Center Experience, Sifa Turan, MD , Mehmet Resit Asoglu, MD, Halis Ozdemir, MD, Lindsey Seger, RDMS, Ozhan Mehmet Turan, MD, PhD

American Institute of Ultrasound in Medicine. | J Ultrasound Med 2021; 9999:1–9


Take Home Points:

  1. Early fetal heart assessment includes the 4-chamber, outflow tract relationship, transverse arches views of the great arteries.
  2. The sensitivity, specificity, false positive, false negative, and accuracy of early fetal heart assessment were 93.2%, 99.9%, 1.4%, 0.4%, and 99.5% (P < .0001), respectively, in entire included cases. 3. Early fetal heart assessment is feasible for screening for major CHDs in high-risk populations. The early identification of major CHDs can guide whether to use a diagnostic genetic test and help parents make decisions on pregnancy, such as the option of early pregnancy termination and management and delivery plans. Hypothesis: The authors hypothesized that standardized step-wise fetal cardiac examination, including the 4-chamber heart view, outflow tract relationship (OTR), and transverse arches view (TAV) of the great arteries, effectively identifies major CHD in the first trimester. Study Population Pregnancies with at least one risk factor for CHDs were included. These risk factors were predetermined or determined during the early ultrasound scan. These were as follows: preexisting DM, seizure disorder, systemic lupus erythematosus (SLE), a family history of CHDs, a history of a CHD-affected birth, use of potential teratogenic medications (such as lithium, selective serotonin reuptake inhibitors, and antipsychotics drugs), assisted reproductive treatment (ART)-conceived pregnancy, presence of at least one of the ultrasound markers including enlarged Nuchal Translucency (>95th percentile), Tricuspid Regurgitation, and reversal in ductus venosus, presence of an extracardiac anomaly or a suspected CHD, a high-risk first-trimester combined screen result, and multiple pregnancies.

Manoj Gupta

Commentary from Dr. Manoj Gupta (New York City, NY, USA), chief section editor of Pediatric & Fetal Cardiology Journal Watch.

The authors defined a major CHD as a defect for which pregnancy termination may be offered as a management option or a defect that requires surgical intervention or medical treatment after delivery or in the first year of life. A fetus who had second-trimester normal echocardiography or no admission to the hospital for a cardiac reason in the first 2 years of life were marked normal.


Primary Outcome
The study’s primary outcome measure was the negative predictive value of this standardized “Early fetal heart assessment” in excluding the presence of a major CHD.


Performance of Early Fetal Heart Assessment
During the EFHA, the major CHDs were identified in 70 (6.8%) fetuses. Of those, 40 (57%) were terminated. The types of major CHDs in the terminated cases were as follows: 8 HLHS, 15 AVSD, 10 DORV, 5 HRH, and 2 DILV. One AVSD diagnosis resulted as normal during the second-trimester examination. The remaining diagnosis was confirmed in the second trimester and postnatal echocardiography. No major CHDs were diagnosed in 954 cases in the first-trimester examination. Of those, 4 were diagnosed with a major CHD in the second trimester: 1 TGA, 1 DORV, 1TOF, and 1 HRH (table 2).


Early Fetal Heart Assessment was able to identify and exclude major CHDs with high positive and negative predictive value (98.6% and 99.6% respectively). Actions such as conducting an early genetic work-up, planning an early anatomy scan, or educating the parents for the multidisciplinary care and providing an option for termination are essential. Considering that CHDs are the most common congenital anomalies, and the presence of a major CHD can have multiple impacts on families and health care systems, it is pivotal to identify major CHDs in early gestation. The scan time for early fetal heart assessment was not available; however, our experience shows that around 3–6 extra minutes are needed to perform early fetal heart assessment (Table 3).


In conclusion, the authors proposed an approach for screening for major CHDs in early gestation and it appears to offer a high negative predictive value in excluding major CHDs in high-risk populations. The transabdominal approach should be the first choice of performing early fetal heart screening. However, the transvaginal approach is a feasible adjunct to complete the scan in incomplete or suboptimal assessment cases. The utility of color and/or power Doppler modes of ultrasound further improves early fetal heart screening accuracy. (Figure 2)