What factors contribute to false-negative diagnoses in the prenatal detection of congenital heart disease at 12-13 gestational weeks?
False-negative diagnoses in early prenatal screening for congenital heart disease are driven by human error, technical factors, and acoustic-window impairment, highlighting the need for optimized imaging techniques and lower referral thresholds in challenging cases like maternal obesity or twin gestation.
The sensitivity for detection of major CHD of early cardiac screening in low-risk pregnancy is under 60%, partly due to the natural history of CHD and, it seems, partly relating to human error and technical issues with image quality. Factors associated with false-negative diagnoses may be categorized into three types: human error, technical factors and acoustic-window impairment. We recommend: appropriate assessment with fetal posterior spine; that sufficient time is spent on assessment of the fetal situs; and that color/power Doppler settings are adapted to the individual case. A lower threshold for referring doubtful cases for early fetal echocardiography should be adopted in cases of maternal obesity and in twin gestation. © 2022 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
Bottelli et al. (Fri,) studied this question.