Hypophosphatasia is a rare hereditary disorder of bone metabolism.In this article, we presented the case of a male infant with a soft skull and short, deformed limbs at birth, followed by seizures and respiratory distress during admission in the neonatal intensive care unit (NICU). Prenatal ultrasound showed limb hypoplasia, skull hypomineralization, and polyhydramnios. Seizures occurred on day...

BACKGROUND AND OBJECTIVE Gastroschisis is a congenital anomaly with increasing incidence, easy prenatal diagnosis and extremely variable postnatal outcomes. Our objective was to systematically review the evidence regarding the association between prenatal ultrasound signs (intraabdominal bowel dilatation [IABD], extraabdominal bowel dilatation, gastric dilatation [GD], bowel wall thickness, pol...

Data acquired from ultrasound examinations is of interest not only for the physician, but also for the patient. While the physician uses the ultrasound data for diagnostic purposes the patient might be more interested in beautiful images in the case of prenatal imaging. Ultrasound data is noisy by nature and visually compelling 3D renderings are not always trivial to produce. This paper present...

Radiol Bras. 2017 Mai/Jun;50(3):199–208 202 congenital anomalies, such as congenital heart disease and gastrointestinal anomalies. The prenatal diagnosis is based on identification of this pattern of malformation in imaging studies. Sirenomelia is considered a primary developmental field defect affecting multiple midline primordia. In the case reported here, MRI allowed us to make the diagnosis...

BACKGROUND Esophageal atresia (EA) is the most frequent and severe congenital anomaly of the esophagus, occurring in 1:2500-1:4500 live births. Five types of EA have been described, EA with tracheoesophageal fistula (TEF) being the most frequent. AIM The aim of this paper is to evaluate epidemiological aspects, malformative associations, and prenatal diagnosis in an unusual case series of EA ...

Objective. To present a case of isolated ascites secondary due to urogenital abnormalities (urogenital sinus) without any other prenatal ultrasound marker. Method. A 36-year-old woman with prenatal isolated ascites delivered a female baby, weighing 2.285 g; ascites was drained at birth and the baby underwent several episodes of urinary retention prior to undergoing X-ray investigations. Results...

BACKGROUND: Caudal regression is a rare syndrome which has a spectrum of congenital malformations ranging from simple anal atresia to absence of sacral, lumbar and possibly lower thoracic vertebrae, to the most severe form which is known as sirenomelia. Maternal diabetes, genetic predisposition and vascular hypoperfusion have been suggested as possible causative factors. CASE PRESENTATION: We r...

Ninety one patients with urinary tract abnormalities diagnosed before birth were reviewed. Diagnoses based on prenatal and postnatal ultrasound scans alone were compared with the final diagnoses after full urological investigations, with operative or necropsy confirmation in 79 cases. The results confirmed that ultrasound examination before birth usually detects nonspecific abnormalities and al...

Triploidy is a lethal chromosomal abnormality. Foetuses with triploid condition have a tendency to die in early conception and very few survive to term. In this study, we report the prenatal diagnosis of fetal triploidy with unexpected chromosomal translocation. A 27 years old women was referred to our clinical cytogenetic department due to history of previous conceptus with intrauterine growth...

OBJECTIVE To identify the frequency of intracranial hemorrhage and its associated factors in premature newborns. METHODS A cross-sectional study based on a survey of medical records of premature neonates submitted to transfontanellar ultrasound at a hospital located in a southern neighborhood of the city of São Paulo, in 2007. RESULTS A 50% rate of intracranial hemorrhage was found among pr...