The unpredictable clinical course of an abdominal cyst diagnosed in the prenatal period: A case report.

Enteric duplication cysts are rare congenital malformations of the gastrointestinal tract. Prenatal diagnosis can be achieved through ultrasound, which may reveal a cystic mass, though the differential diagnosis is broad. We report a case in which the prenatal ultrasound detection of an abdominal cystic mass prompted postnatal magnetic resonance imaging, leading to the diagnosis of an enteric duplication cyst. At 6 weeks of age, the infant developed an obstruction of the small bowel, requiring urgent surgical intervention. This case underscores the difficulties in differentiating abdominal cysts prenatally. Thorough prenatal and neonatal follow-up is crucial, and postnatal magnetic resonance imaging is sometimes essential for accurate diagnosis. The clinical course can be unpredictable, and complications that may arise could necessitate urgent surgical treatment.

Prenatal diagnosis of a novel pathogenic variation in the ACAN gene presenting with isolated shortening of fetal long bones in the second trimester of gestation: a case report.

BACKGROUND: Heterozygous mutations of the ACAN gene are a major cause of different evolutive growth defects in the pediatric population, but were never described as a cause of fetal skeletal dysplasia. CASE PRESENTATION: A G1 at 21w + 3d came to our institution for the second-trimester ultrasound and a skeletal dysplasia with prevalent involvement of limb's rhizomelic tracts was suspected. Amniocentesis followed by CGH-array was performed, with normal results. An examination by NGS of some genes associated with skeletal dysplasias showed a novel pathogenic variant of the ACAN gene: c.2677delG. CONCLUSION: Sequence variations of ACAN were never described as a possible cause of fetal skeletal anomalies to date. In this case report, we describe the first prenatal diagnosis of skeletal dysplasia associated with a pathogenic variant of ACAN.

Fetus-in-fetu: two case reports.

The objective of our study is to describe the sonographic findings of an extremely rare pathology. We therefore present two case reports of prenatal diagnosis of fetus-in-fetu (FIF) with a review of the literature. FIF is a benign disorder, unlike the teratoma with which often enter into the differential diagnosis, localized in most cases in the retroperitoneal space. Prenatal diagnosis is based mainly on ultrasound and radiological characteristics. The treatment of choice is surgical excision. The importance of prenatal diagnosis of fetus-in-fetu and the effect on subsequent management are described.

Satisfactory rate of postprocessing visualization of standard fetal cardiac views from 4-dimensional cardiac volumes acquired during routine ultrasound practice by experienced sonographers in peripheral centers.

The aim of this study was to evaluate the feasibility of visualizing standard cardiac views from 4-dimensional (4D) cardiac volumes obtained at ultrasound facilities with no specific experience in fetal echocardiography. Five sonographers prospectively recorded 4D cardiac volumes starting from the 4-chamber view on 500 consecutive pregnancies at 19 to 24 weeks' gestation undergoing routine ultrasound examinations (100 pregnancies for each sonographer). Volumes were sent to the referral center, and 2 independent reviewers with experience in 4D fetal echocardiography assessed their quality in the display of the abdominal view, 4-chamber view, left and right ventricular outflow tracts, and 3-vessel and trachea view. Cardiac volumes were acquired in 474 of 500 pregnancies (94.8%). The 2 reviewers respectively acknowledged the presence of satisfactory images in 92.4% and 93.6% of abdominal views, 91.5% and 93.0% of 4-chamber views, in 85.0% and 86.2% of left ventricular outflow tracts, 83.9% and 84.5% of right ventricular outflow tracts, and 85.2% and 84.5% of 3-vessel and trachea views. The presence of a maternal body mass index of greater than 30 altered the probability of achieving satisfactory cardiac views, whereas previous maternal lower abdominal surgery did not affect the quality of reconstructed cardiac views. In conclusion, cardiac volumes acquired by 4D sonography in peripheral centers showed high enough quality to allow satisfactory diagnostic cardiac views.

Satisfactory rate of post-processing visualization of fetal cerebral axial, sagittal, and coronal planes from three-dimensional volumes acquired in routine second trimester ultrasound practice by sonographers of peripheral centers.

OBJECTIVE: The aim of this study was to evaluate the feasibility to visualize central nervous system (CNS) diagnostic planes from three-dimensional (3D) brain volumes obtained in ultrasound facilities with no specific experience in fetal neurosonography. METHODS: Five sonographers prospectively recorded transabdominal 3D CNS volumes starting from an axial approach on 500 consecutive pregnancies at 19-24 weeks of gestation undergoing routine ultrasound examination. Volumes were sent to the referral center (Department of Obstetrics and Gynecology, Università Roma Tor Vergata, Italy) and two independent reviewers with experience in 3D ultrasound assessed their quality in the display of axial, coronal, and sagittal planes. RESULTS: CNS volumes were acquired in 491/500 pregnancies (98.2%). The two reviewers acknowledged the presence of satisfactory images with a visualization rate ranging respectively between 95.1% and 97.14% for axial planes, 73.72% and 87.16% for coronal planes, and 78.41% and 94.29% for sagittal planes. The agreement rate between the two reviewers as expressed by Cohen's kappa coefficient was >0.87 for axial planes, >0.89 for coronal planes, and >0.94 for sagittal planes. The presence of a maternal body mass index >30 alters the probability of achieving satisfactory CNS views, while existence of previous maternal lower abdomen surgery does not affect the quality of the reconstructed planes. CONCLUSIONS: CNS volumes acquired by 3D ultrasonography in peripheral centers showed a quality high enough to allow a detailed fetal neurosonogram.