Project description:Fetal intestinal volvulus is a rare condition that can lead to hemorrhage, bowel necrosis, and urgent surgical treatment after birth. Thus, prompt diagnosis and treatment are essential to avoiding fetal or neonatal demise. Prenatal ultrasound is a keystone tool in the diagnostic course. However, sonographic findings tend to be non-specific, with limited understanding of the pathophysiology behind their atypical presentation. With a literature review and a case series, we aim to optimize the antenatal diagnosis and management of this rare but life-threatening condition. Six cases from our institution were retrospectively analyzed over 12 years. A literature review was conducted until December 2022. A total of 300 articles matched the keyword "Fetal volvulus", and 52 studies were eligible for the review. Our 6 cases are added to the 107 cases reported in the literature of fetal intestinal volvulus with antenatal ultrasound assessment and without associated gastroschisis or omphalocele. Several prenatal symptoms and ultrasound markers, even if not specific, were more frequently reported. Different experiences of management were described regarding follow-up, the timing of delivery, the mode of delivery, and surgery outcomes. This paper highlights the importance of suspecting and assessing fetal volvulus at routine ultrasound scans, describing the most frequent antenatal presentations and management in order to improve fetal and neonatal outcomes.

| S-EPMC10381374 | biostudies-literature

Prenatal diagnosis of fetal peters' plus syndrome: a case report.

Project description:Peters' plus syndrome is a rare but clinically recognizable autosomal recessive ocular genetic syndrome. Diagnosis during the fetal life is challenging due to the presence of nonspecific findings such as ventriculomegaly in the growth-retarded fetuses. We report the first case of fetal Peters' plus syndrome from India, where fetal ultrasound and the family history were helpful in providing a clue to the diagnosis that was confirmed later on by the DNA analysis.

| S-EPMC3745879 | biostudies-literature

An early prenatal diagnosis of type III Pfeiffer syndrome: a case description.

Project description: Not available

| S-EPMC11651975 | biostudies-literature

Prenatal diagnosis of hemimegalencephaly via transabdominal and transvaginal ultrasonography: a case description.

Project description: Not available

| S-EPMC11007497 | biostudies-literature

Prenatal ultrasound diagnosis and management of fetal aortopulmonary septal defects: a case series.

Project description:BackgroundTo investigate the prenatal ultrasound diagnosis and management of patients with aortopulmonary septal defects (APSDs).MethodsA total of 8 fetuses with APSDs who underwent fetal echocardiography at our hospital from January 2015 to January 2019 were retrospectively included in this study.ResultsAmong the 8 fetuses, there were 4 cases of type I APSD, 3 cases were type II, and 1 case was type III. Among the 8 cases, there were 2 cases of simple APSD. There were echocardiographic characteristics that were common to all 3 types of APSD. This included defects between the ascending aorta and the trunk of the pulmonary artery in the short-axis section of the aorta, and in the three vessels and the three-vessel trachea section. Furthermore, the "V"-shaped structure confluence point of all APSD cases was positioned more forward than normal in the three-vessel trachea section. Type I APSD can be better characterized by the cross-section of the double outflow tract of the aorta and the pulmonary artery, which is close to the aortic valve and pulmonary valve. Type II APSD can be clearly diagnosed by the short-axis view of the aorta. Since the defect between the aorta and the pulmonary artery is distant from the aortic valve and pulmonary valve, the defect does not involve the bifurcation of the pulmonary artery and may be associated with an ectopic origin of the right pulmonary artery. Type III APSD is similar to a permanent arterial trunk, and the space between the ascending aorta and the trunk of the pulmonary artery is completely missing. Color and pulse Doppler showed shunt flow in the defects.ConclusionsAPSD can be diagnosed and classified by fetal echocardiography. This, together with the presence or absence of fetal intracardiac and extracardiac deformities, can provide valuable prenatal information to pregnant women and their families, which may facilitate timely diagnosis and timely surgical treatment after birth.

| S-EPMC8649606 | biostudies-literature

Fetal-MRI prenatal diagnosis of severe bilateral lung hypoplasia: alveolar capillary dysplasia case report.

Project description:Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare and lethal developmental disorder of the lung that affect both acinar structure and the intrinsic pulmonary vasculature. We report prenatal and postnatal imaging with histopathological findings of this rare condition. We, first, describe MR imaging features and discuss its role in prenatal imaging.

| S-EPMC5505476 | biostudies-literature

Noninvasive prenatal diagnosis of a fetal microdeletion syndrome.

Project description: Not available

| S-EPMC4308687 | biostudies-literature

Prenatal diagnosis of fetal encephalomalacia after maternal diabetic ketoacidosis.

Project description:Introduction Encephalomalacia in a developing fetus is a rare and devastating neurological finding on radiologic imaging. Maternal diabetic ketoacidosis (DKA) can lead to metabolic and vascular derangements which can cause fetal encephalomalacia. Case We report the case of a 27-year-old pregnant woman with White's Class C diabetes mellitus who presented in the 25th week of gestation with DKA. Four weeks after her discharge, marked fetal cerebral ventriculomegaly was noted on ultrasound. A subsequent fetal magnetic resonance imaging (MRI) demonstrated extensive, symmetric cystic encephalomalacia, primarily involving both cerebral hemispheres. The pregnancy was continued with close fetal and maternal surveillance. The patient underwent a repeat cesarean delivery in her 37th week. The infant had a 1 month neonatal intensive care unit stay with care rendered by a multiple disciplinary team of pediatric subspecialists. The postnatal course was complicated by global hypotonia, poor feeding, delayed development and ultimately required anticonvulsants for recurrent seizures. He died at the age of 9 months from aspiration during a seizure. Discussion Although the maternal mortality from DKA has declined, DKA still confers significant neurological fetal morbidity to its survivors.

| S-EPMC4239142 | biostudies-other

Prenatal diagnosis of dural sinus malformation by two-dimensional combined with three-dimensional ultrasound: a case description.

Project description: Not available

| S-EPMC10784060 | biostudies-literature