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

Autor: L. Bottelli, V. Franzè, G. Tuo, F. Buffelli, D. Paladini
Rok vydání: 2023
Předmět:
Zdroj: Ultrasound in Obstetrics & Gynecology. 61:577-586
ISSN: 1469-0705
0960-7692
DOI: 10.1002/uog.26094
Popis: The aims of this study are: 1) to report on the early detection of congenital heart disease (CHD) in low- and high-risk populations managed at our hospital; 2) to perform a detailed analysis of false negatives, in order to derive possible recommendations on how to reduce their incidence.This was a retrospective observational study analyzing cases undergoing an ultrasound examination at the end of the first trimester. The study population includes 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 regional community hospitals. For each case, the following variables were retrieved and analyzed: number of fetuses, maternal body mass index (BMI), gestational age at first trimester screening, low vs high risk pregnancy, nuchal translucency thickness (normal; 99Gestational age at ultrasound ranged from 12+0 to 13+6 weeks (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. In the 7-year study period, 7080 pregnancies have been evaluated in the first trimester. Of these, 6879 were low-risk and 201 high-risk cases. In the low-risk group, there were 30 CHDs, which yields a prevalence of 4.4/1000 (2.2/1000 if only major CHD are considered). Nine of the 30 CHDs were suspected at screening (7/15 major CHDs). Excluding cases not associated with a modification of the screening views, 7/13 were detected, which corresponds to a sensitivity of 53.8%. Among the 201 high risk cases, 46 CHDs were present (including 2 minor CHDs), and 43 were detected, which corresponds to a sensitivity for early fetal echocardiography of 97.7%. The analysis of the false negatives on the 11 (of the 24 cases) expected to be picked up on screening views revealed that human errors (of image interpretation or scanning approach or both) were involved in 9 cases, technical factors (excessive color balance, wrong plane alignment) were present in 2 cases. Acoustic window impairment was present as a co-factor in 5/11 cases (maternal obesity and/or twins).This study confirms that the sensitivity of early cardiac screening in pregnancy is roughly 50% (53.8% in our low risk group), due to natural history of CHD and, at least in part relates to human error, and technical issues with image quality. We were also able to categorize factors responsible for false negative diagnoses, recognizing three types: human, technical, acoustic window impairment. The resulting recommendations are: to use always an appropriate ventral access to the fetal thorax; to adapt color/power Doppler settings to the single case; to spend more time on the assessment of the fetal situs; to adopt a lower threshold for referring doubtful cases for early fetal echocardiography in case of maternal obesity and/or twins. This article is protected by copyright. All rights reserved.
Databáze: OpenAIRE
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