Prenatal detection of congenital heart disease at 12-13 gestational weeks: detailed analysis of false-negative cases.

Abstract

To report on the early detection of congenital heart disease (CHD) in low- and high-risk populations managed at our hospital; and perform a detailed analysis of false-negative diagnoses, in order to derive possible recommendations on how to reduce their incidence. This was a retrospective observational study analyzing cases which underwent an ultrasound examination at the end of the first trimester at the Fetal Medicine and Surgery Unit of Gaslini Children's Hospital, Genoa, Italy, in the period January 2015 to December 2021. The study population included both low-risk pregnancies that underwent standard first-trimester combined screening and high-risk ones referred to our unit because of a positive combined test or suspicion of fetal anomalies raised in a regional community hospital. For each case, the following variables were retrieved and analyzed: number of fetuses, maternal body mass index, gestational age at first-trimester screening, whether the pregnancy was low or high risk, nuchal translucency thickness (normal or > 99th centile), type of CHD, associated extracardiac anomalies, karyotype and pregnancy outcome. For low-risk pregnancies, suspicion of CHD was also recorded. In low-risk cases, sonographic cardiac screening comprised evaluation of the four-chamber view (grayscale and color/power Doppler) and three-vessel-and-trachea view (color/power Doppler). High-risk cases underwent early fetal echocardiography. False-negative cases were categorized according to likely cause of the missed diagnosis, as follows: human factor; technical factor; acoustic-window factor. Gestational age at ultrasound ranged from 12 + 0 to 13 + 6 weeks (crown-rump length (CRL), 50.1-84.0 mm) in the low-risk group and from 11 + 5 to 13 + 6 weeks (CRL, 45.1-84.0 mm) in the high-risk group. Over the 7-year study period, 7080 pregnancies were evaluated in the first trimester. Of these, 6879 (7167 fetuses) were low-risk and 201 were high-risk cases. In the low-risk group, there were 30 fetuses with CHD (including 15 major and 15 minor CHD), yielding a prevalence of 4.2/1000 (2.1/1000 for major CHD). Nine of the 30 CHD cases were suspected at screening ultrasound (7/15 major CHD). Excluding cases in which the CHD would not be expected to be associated with a modification of the screening views and would therefore not be detectable on screening ultrasound, 7/12 cases of major CHD were detected, corresponding to a sensitivity of 58.3%. Among the 201 high-risk cases, there were 46 fetuses with CHD (including 44 major and two minor CHD), of which 43 were detected, corresponding to a sensitivity for early fetal echocardiography of 93.5%, or 97.7% if the two cases that were unlikely to be detectable on first-trimester screening were excluded. Analysis of the 11 (of 24) false-negative cases that would be expected to be picked up on screening views revealed that human error (image interpretation and/or scanning approach) was involved in all 11 cases and technical factors (excessive color priority (color-balance function) and/or incorrect plane alignment) were present in two. There was impairment of the acoustic window (associated with maternal obesity and/or twin gestation) as a cofactor in five of the 11 cases. 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.