INTRODUCTION Lissencephaly ("smooth brain") forms a major group of brain malformations due to abnormal neuronal migration. It can cause severe intellectual and motor disability and epilepsy in children. The prenatal diagnosis of this malformation is rare. CASE REPORT We presented a case of the prenatal diagnosis of lissencephaly. A 30-year-old pregnant woman was reffered to the hospital at th...

Fetal malformations detected through routine prenatal ultrasound examination comprise a heterogeneous group potentially associated with genetic disorders where the underlying cause is difficult to establish. We present the prenatal diagnosis of a rare X-linked myopathy involving a new VMA21 gene mutation, detected through a novel prenatal exome sequencing-based approach.

Prenatal ultrasound showing a double bubble is considered to be pathognomonic of duodenal atresia. We recently encountered an infant with prenatal findings suggestive of duodenal atresia with a normal karyotype who actually had a jejunal duplication cyst on exploration. A finding of an antenatal double bubble should lead to a thorough evaluation of the gastrointestinal tract and appropriate pre...

Prenatal ultrasound is a powerful diagnostic tool, but there has been little research on how to teach ultrasound to family physicians. The available evidence supports teaching through didactics followed by supervised scanning. Didactic topics include physics and machine usage, indications, fetal biometry, anatomic survey, practice management, ethical issues, and resources. Supervised scanning r...

OBJECTIVE To present the prenatal magnetic resonance imaging (MRI) and ultrasound findings of Miller-Dieker lissencephaly syndrome (MDLS) associated with chromosome 17p13.3 deletion in a fetus. CASE REPORT A 30-year-old, primigravid woman was referred to the hospital at 31 weeks' gestation because of intrauterine growth restriction (IUGR) and polyhydramnios detected by ultrasound. The pregnan...

Chondrodysplasia punctata has been classified into two major types including the rare autosomal recessive "rhizomelic type" and a more common but genetically heterogenous nonrhizomelic type (referred to by some authors as "Conradi-Hünermann (CH) type"). The former is typically lethal, manifesting serious anomalies, and allowing several instances of confident prenatal diagnosis. The latter being...

BACKGROUND Congenital malformations occur in 3-4% of live births. Their prenatal detection is performed by ultrasound screening. Any announcement about a suspected malformation is a source of stress for the parents, and misdiagnosis during ultrasound screening can lead to expensive and sometimes iatrogenic medical interventions. In this study, we aim to determine the false-positive rate, first ...

Objectives: Ultrasonic rates of fetal malformation and prenatal soft-marker positivity in Mongolian and Han populations were investigated through a standardized screening protocol. Methods: A retrospective study of 7753 pregnancies (Mongolian, 1314; Han, 5751; others, 688) was conducted in our hospital, examining prenatal fetal ultrasound tests performed between September, 2011 and February, 20...

We present the prenatal ultrasound findings of massive macroglossia in a fetus with prenatally diagnosed Beckwith-Wiedemann syndrome. Three-dimensional surface mode ultrasound was utilized for enhanced visualization of the macroglossia.

Objectives. To demonstrate the feasibility of the prenatal diagnosis of partial androgen insensitivity syndrome by 3D-4D ultrasound. Methods. To report prenatal diagnosis of partial androgen insensitivity syndrome at 32nd week of gestation by 3D-4D ultrasound in a fetus with a 46XY karyotype, testing negative to the mutation analysis of SRY gene and the 5 α -reductase 2 gene (SRD5A2). Results. ...