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Objectives: To compile a list of instant diagnoses of major fetal anomalies, and to present their sonographic descriptors and test them in a retrospective series of fetuses with congenital anomalies managed at our center. Methods: The first step was to identify major anomalies that meet the following criteria: (1) can be diagnosed directly and unequivocally on the basis of a set of descriptors evident on a single sonographic view; (2) are among those more commonly diagnosed in utero; (3) represent major lethal or 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 cases with these anomalies evaluated since January 2000 in our Fetal Medicine Unit, retrieved from our electronic database. For each congenital anomaly–sonographic descriptor pair we then evaluated the presence vs absence of an unequivocal relationship between anomaly and descriptor, assessing: whether a particular descriptor in a set reference plane identified unequivocally the anomaly, i.e. the same descriptor could not be found in any other malformation; and whether a particular anomaly presented the corresponding descriptor in all cases. Finally, we evaluated whether the sonographic descriptors could be applied in all trimesters or only selectively, considering the natural history of the 20 instant diagnoses. Results: Of the 20 instant diagnoses, five involved the central/peripheral nervous system (exencephaly/anencephaly, alobar/semilobar holoprosencephaly, cephalocele, open spinal dysraphism, complete agenesis of corpus callosum), five involved the heart (hypoplastic left heart syndrome, complete atrioventricular septal defect, severe Ebstein's anomaly, critical aortic stenosis, transposition of the great arteries), five involved the abdominal wall (left‐sided congenital diaphragmatic hernia, exomphalos, gastroschisis, body‐stalk anomaly) or gastrointestinal tract (duodenal atresia), and five involved the remaining systems (three urinary (autosomal recessive polycystic kidney disease, multicystic dysplastic kidney, lower urinary tract obstruction), two skeletal (transverse limb defect, radial ray defect)). All of the descriptors were found to identify unequivocally the related malformations, whereas four of the malformations were not associated with their reference descriptors in every case. For example, congenital diaphragmatic hernia (left‐sided) presented without the stomach in the thorax in 42/93 (45.2%) cases. Due to the natural history of the condition, not all signs were recognizable in the first trimester, some becoming evident only from the second trimester onwards. Conclusion: We have defined sonographic descriptors that enable an unequivocal instant diagnosis for a list of 20 major congenital anomalies: the 'INDIAMAN‐20' (INstant DIAgnosis of Major ANomalies) protocol. We believe that using this approach may facilitate focused training of less experienced operators and that it may be incorporated into artificial intelligence and deep learning protocols, further boosting the instant prenatal recognition of these lethal or life‐threatening malformations. © 2022 International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

This article, published in the journal Ultrasound in Obstetrics & Gynecology, discusses two cases of prenatal diagnosis of Bardet-Biedl Syndrome (BBS), a rare genetic disorder. The main finding in both cases was large, echogenic kidneys on prenatal imaging. BBS is characterized by renal dystrophy and malformations, polydactyly, intellectual disability, central obesity, and hypogonadism. Genetic testing confirmed BBS in both cases, with different mutated copies of the BBS10 and BBS1 genes. The article provides valuable information for researchers and healthcare professionals studying genetic abnormalities and prenatal diagnoses. [Extracted from the article]

Caroli's syndrome (CS; also known as Grumbach's disease) is characterized by non-obstructive intrahepatic bile ductal ectasia and dilatation, classified as mono- or multilobar, and it is associated with congenital hepatic fibrosis[1]. Signs of CD may not be visible during the early stages of pregnancy, and MRI may be helpful to detect liver biliary tree dilatation. [Extracted from the article]

The article discusses a study related to use of micro computed tomography for ex-vivo imaging of human fetal kidney disease with comparative histology. It mentions that micro-CT was performed on three human fetal kidneys which included a structurally normal kidney, one with autosomal recessive polycystic kidney disease and another with multicystic dysplastic kidney disease. It also mentions vusualization of elongated cysts in case of polycystic disease.

A nulliparous Ethiopian woman with an unremarkable routine ultrasound in week 18 was referred at 32 weeks due to anhydramnios. The ultrasound examination showed an alive fetus, which was small for gestational age (<10 percentile), anhydramnios, bilateral enlarged kidneys over the 95 percentile and an empty urinary bladder. Autopsy revealed polycystic kidneys with cystic dilated collecting ducts and tubuli, hepatobiliary changes with ductal plate malformation, changes pathognonomic for ARPKD. [Extracted from the article]

The characteristic imaging of Joubert syndrome is "molar tooth sign", which may be failed to identify by sonographers prenatally, as sometimes it is similar to Dandy-Walker malformation. It is possible to detect the "molar tooth sign" and diagnose Joubert syndrome by prenatal ultrasound, especially in cases associated with other malformations such as polycystic kidney, encephalocele, post-axial polydactyly and so on. [Extracted from the article]

Autosomal dominant polycystic lidney disease (ADPKD) is the most common inherited renal disease. Labour was induced at 37 weeks due to fetal growth restriction; vacuum-assisted vaginal delivery was performed due to labour dystocia and the baby was born with an Apgar score of 9/10. This case shows how diagnosis of VEO-ADPKD through ultrasound may signal high-risk patients with poor prognosis that may benefit from early and timely treatment. [Extracted from the article]