In Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
OBJECTIVES : The aims of this study were to compile a list of instant diagnoses of major fetal anomalies, to illustrate their sonographic descriptors and to test them in a retrospective series of congenital anomalies managed at our center.
METHODS : The first step was to identify major anomalies that meet the following criteria: 1) be directly and univocally diagnosed on the basis of a set of descriptors evident on a single sonographic view; 2) be among those more commonly diagnosed in utero; 3) represent major lethal, life-threatening malformations or anomalies for which no or only palliative surgery can be performed. For each of these anomalies a sonographic descriptor was produced. The second step was to test the descriptors of the instant diagnoses in all the cases of the selected anomalies retrieved from our computerized database. For each congenital anomaly-sonographic descriptor pair was then evaluated the presence vs absence of a univocal, unambiguous relationship between anomaly and descriptor. In particular, two aspects were assessed: 1) if a given descriptor in a set reference plane identified univocally the anomaly, i.e. that the same descriptor could not be found in any other malformation; 2) if a given anomaly presented the corresponding descriptor in all cases or not. Finally, we evaluated whether the sonographic descriptors could be applied in all trimesters or selectively, considering the natural history of the 20 instant diagnoses.
RESULTS : Of the 20 instant diagnoses, 5 regard the central/peripheral nervous system, 5 the heart, 5 the abdominal wall / gastrointestinal tract, 5 the remaining apparati (3 urogenital, 2 skeletal). All the descriptors were found to univocally identify the related malformations, whereas not all the malformations were always associated with the reference descriptors. As an example, congenital diaphragmatic hernia (CDH, left-sided) presented without the stomach in the thorax in 42/93 (45.2%) cases.
CONCLUSION : We have created univocal sonographic descriptors that allow an instant diagnosis for a list of 20 congenital anomalies - the INDIAMAN-20 (INstant DIAgnoses of Major ANomalies) protocol. We believe that this approach may facilitate focused training of less experienced operators but it may be also incorporated in Artificial Intelligence and Deep Learning protocols further boosting the prenatal instant recognition of these lethal or life-threatening malformations. This article is protected by copyright. All rights reserved.
Paladini D, Franzè V, Morena M, Prefumo F
2022-Dec-09
anomaly scan, congenital anomaly, fetus, instant diagnosis, malformation, sonographic descriptor, ultrasound
