Congenital malformation AND ultrasonography diagnosis

OBJECTIVES: The finding of an abdominal cyst during pregnancy has an estimated prevalence of 1 in 1000 pregnancies, mostly in second and third trimester. The detection of a fetal abdominal cyst during the first trimester scan is a rare event, whose natural history and prognosis are often unknown and unpredictable as these anomalies can be related to various underlying conditions and originate from different structures. The aim of this study is to evaluate the outcome of fetal abdominal cysts detected in the first trimester in order to understand their possible clinical significance and to offer the proper management according to the available data...

INTRODUCTION AND IMPORTANCE: Intestinal duplication is an uncommon congenital malformation affecting the alimentary tract. This article presents a case of enteric duplication cyst (EDC) in an adult, accompanied by a review of the available literature. CASE PRESENTATION: A 34-year-old woman with polymyositis underwent a routine CT scan as part of her medical assessment revealing an 8 cm mass near the caecum and terminal ileum. Diagnostic procedures confirmed a cystic spherical mass...

OBJECTIVE: This study aimed at integrating the clinical and phenotypic characteristics, hormonal profile and genetic diagnosis of children with malformation syndromes associated with XY disorders of sex development (DSD) in a single-center in Egypt. METHODS: This retrospective study included patients with syndromic XY DSD recruited from the Pediatric Endocrinology and Surgery units at Alexandria University Children's hospital (AUCH), Alexandria, Egypt, during the period between 2018 and 2023...

Gastroschisis is the most common congenital defect of the abdominal wall, typically located to the right of the umbilical cord, through which the intestinal loops and viscera exit without being covered by the amniotic membrane. Despite the known risk factors for gastroschisis, there is no consensus on the cause of this malformation. Prenatal ultrasound is useful for diagnosis, prognostic prediction (ultrasonographic markers) and appropriate monitoring of fetal vitality. Survival rate of children with gastroschisis is more than 95% in developed countries; however, complex gastroschisis requires multiple neonatal interventions and is associated with adverse perinatal outcomes...

PURPOSE: This study examines the diagnostic potential of whole-body blood pool scintigraphy (WBBPS) using technetium-99 m-labeled red blood cells to detect congenital vascular malformations (CVMs). It aims to compare its efficacy with traditional imaging techniques such as magnetic resonance imaging (MRI) and ultrasonography (USG), emphasizing its potential advantages in terms of characterization of lesions and capacity for whole-body assessment. METHODS: The efficacy of WBBPS and single-photon emission computed tomography (SPECT)/computed tomography (CT) imaging in diagnosing CVMs, comparing them with USG and MRI results, was evaluated in this retrospective study...

Transverse testicular ectopia (TTE) is a rare congenital malformation where both testes descend through the same inguinal canal and are located in the same hemiscrotum. It is usually treated with transseptal orchiopexy. In this article, we report the case of a 1-year-old boy diagnosed with TTE who was successfully treated with laparoscopically assisted orchiopexy by going through the anatomical conventional route. A four-month-old boy was referred to our department with bilateral empty scrotum. On the physical examination, the left testis was palpable in the left groin region and the right testis was impalpable...

Prenatal congenital inguinal hernia is a rare condition, with limited cases reported in the literature. Accurate prenatal diagnosis is crucial for appropriate management and outcomes. We report a case of a 44-year-old woman at 36 weeks of gestation with well-controlled gestational diabetes diagnosed with prenatal congenital inguinal hernia. The patient's antenatal history included abnormal first-trimester screening tests for Down syndrome, but subsequent amniocentesis revealed no chromosomal abnormalities...

BACKGROUND Duplication of the gastrointestinal tract is a rare congenital malformation that can develop in any part of the digestive tract. These duplications may be asymptomatic into adult age. Situs inversus totalis is a rare congenital anomaly characterized by a mirror transposition of thoracic and abdominal organs. We present a case of a pancreatic pseudocyst in a patient with a combination of situs inversus totalis and doubling of the esophagus, stomach, and first part of the duodenum. CASE REPORT A 64-year-old woman presented with epigastric pain...

A 7-year-old girl, coming from a rural area in Cameroon, presented to the emergency department with a 3-months history of abdominal pain. Her family also reported vomiting and minimal food intake for two weeks. Physical examination showed a palpable and mobile abdominal mass. An ultrasound showed a large intrabdominal multicystic lesion of about 10cm, close to the intestine and with no solid lesions in other organs. A laparotomy was scheduled and a mobile mass dependent on the jejunum was found. The mass caused an intestinal obstruction and was composed of several large cysts with whitish fluid...

Here, we report a case of a congenital peribronchial myofibroblastic tumor (CPMT). A 34-year-old primigravida was referred to our hospital at 31 gestation weeks because of suspected congenital pulmonary airway malformation (CPAM). Fetal ultrasonography showed a mass measuring 4.6 × 4.0 × 3.9 cm with mixed high and low echogenicity in the left lung, which was associated with microvascular blood flow in the tumor. Fetal magnetic resonance imaging (MRI) revealed a low-intensity left lobe lung lesion on a T2-weighted image...

Fetus-in-fetu (FIF) is a rare congenital anomaly in which a malformed parasitic twin develops within the body of a live fetus or child. Abdominal teratoma, a type of germ cell tumor, can be a great imaging mimicker of FIF and vice-versa, as they both can present as a heterogeneous mass with calcifications and a fat component. Radiological differentiation of these 2 entities should be made because of the difference in surgical planning and treatment options. Features such as visualization of distinct bony vertebral elements and encysted cystic components are the specific features of Fetus in fetu [1]...

OBJECTIVES: To investigate the diagnostic yield of whole genome sequencing (WGS) in fetuses with various types of congenital malformations referred to a tertiary center for prenatal diagnosis. METHODS: In this prospective study, 50 fetuses with different congenital malformations, negative for trisomies and causative copy number variants, were further analyzed with fetal-parental trio WGS analysis. Parents were eligible for inclusion if they accepted further investigation following the detection of isolated or multiple malformations during prenatal ultrasound...

We report an antenatal presentation of a huge pericardial mature teratoma that was referred as congenital pulmonary airway malformation (CPAM) in the late third trimester of pregnancy. Initial ultrasound evaluation revealed a huge predominantly cystic lesion with mixed echogenicity in the left hemithorax. A provisional diagnosis of pleural tumor was considered in view of previous scans at 20‒28 weeks being normal and associated pleural effusion. Magnetic resonance imaging of the fetus reported the lesion to be CPAM which was supported by postnatal computed tomographic imaging done on day 2 of life...

BACKGROUND: Gallbladder agenesis is a biliary tract related congenital malformation with an incidence of 10-65 per 100,000 and associated with other congenital abnormalities. GA is usually asymptomatic, but sometimes patients become symptomatic. The most usual symptoms are jaundice, abdominal pain in the right upper quadrant, nausea and vomiting. We reported a case of GA and choledochogastric fistula in a patient with history of cholangitis. CASE PRESENTATION: A 70-year-old man presented to Emergency Department of Modarres Hospital with jaundice, fever, right upper quadrant abdominal pain, nausea and vomiting...

Congenital lung malformations (CLMs) are rare developmental anomalies of the lung, including congenital pulmonary airway malformations (CPAM), bronchopulmonary sequestration, congenital lobar overinflation, bronchogenic cyst and isolated congenital bronchial atresia. CLMs occur in 4 out of 10,000 live births. Postnatal presentation ranges from an asymptomatic infant to respiratory failure. CLMs are typically diagnosed with antenatal ultrasonography and confirmed by chest CT angiography in the first few months of life...

BACKGROUND: Unilateral genital tract obstruction with ipsilateral renal anomaly (UGTOIRA) syndrome is a rare congenital urogenital anomaly, characterized by different combinations of uterine abnormalities, unilateral cervical-vaginal obstruction, and ipsilateral renal abnormalities. Timely and correct diagnosis is critical. In this study, we analyzed the diverse ultrasound image features of UGTOIRA syndrome on genitourinary system segmental sequential ultrasound screening (SSUS) and the accuracy of ultrasonic diagnosis...

BACKGROUND: Extremely low birth weight (< 1000 g) still influences postsurgical prognosis in the neonatal and infantile periods. Additionally, the life expectancy of neonates with trisomy 18 is extremely poor owing to various comorbidities. Therefore, it takes courage to perform laparotomy for the purpose of treatment of congenital multiple intestinal atresia in a baby with an unpredictable life prognosis. CASE PRESENTATION: Fetal ultrasonography revealed cardiac malformation, intestinal dilation, and physical characteristics suggestive of a chromosomal abnormality in this case...

OBJECTIVES: Mitochondrial complex I deficiency, nuclear type 16 is a rare autosomal recessive disorder caused by biallelic pathogenic variants in NDUFAF5 (C20orf7) [OMIM 618238]. This entity belongs to a genetically and clinically heterogenic group of complex I deficiency which accounts for up to 30% of childhood mitochondrial disorders presenting as Leigh syndrome, leukoencephalopathy, fatal infantile lactic acidosis, and other early-onset neurodegenerative disorders. We present very early, unique, and severe prenatal manifestation of this disorder, previously considered to manifest post-natally...

OBJECTIVE: The aim of the study was to retrospectively analyze the indications Techniques and complications of pregnancy termination performed in a tertiary center. MATERIALS AND METHODS: All cases between 10 and 33 weeks of gestation between January 2021 and June 2023 were retrospectively analyzed. The patients were divided into two groups as group 1 with 11+0 to 21+6 gestational weeks and group 2 for those at 22+0 and 33+0 gestational weeks. RESULTS: A total of 568 pregnancy terminations were included in the study...

BACKGROUND: Zinner's syndrome is a rare congenital malformation of the seminal vesicle and ipsilateral upper urinary tract caused by mesonephric duct developmental anomaly during early embryogenesis. This study aimed to demonstrate the significance of magnetic resonance imaging (MRI) in distinguishing pelvic cysts in males, given that MRI is the gold standard exam for confirming the diagnosis and managing therapy. CASE REPORT: A 21-year-old male patient with a solitary kidney who had been diagnosed since birth presented with abdominal pain...