Prenatal diagnosis of complete atrioventricular septal defect with truncus arteriosus

Truncus arteriosus (TA) is a rare cardiac anomaly constituting less than 1% of all congenital heart defects. Its association with complete atrioventricular septal defect (AVSD) is extremely unusual and only 12 cases diagnosed postnatally or postmortem have been reported so far. We describe the first case of truncus arteriosus with AVSD to be diagnosed prenatally by fetal echocardiography. Copyright © 2007 John Wiley & Sons, Ltd.     

Fetal translocation between chromosomes 2, 18, and 21 resolved by fish

An apparently balanced t(2q;21q) translocation was discovered in fetal blood and amniocytes of a 22-week fetus, monitored because of ultrasonographic evidence of a heart disease. FISH (fluorescence in situ hybridization) analysis disclosed a complex translocation between chromosomes 2q, 18q, and 21q, which was inherited from the healthy mother. This observation corroborates the usefulness of molecular cytogenetic techniques in raising the quality of prenatal diagnosis and detecting subtle rearrangements not resolved by standard cytogenetics.     

Prenatal diagnosis of congenital gastric outlet obstruction

A case of gastric outlet obstruction diagnosed prenatally at 22 weeks' gestation is described. The differential diagnosis and the clinical management of this rare condition are discussed, and an updated literature review is presented.     

Split notochord syndrome variant: prenatal findings and neonatal management

Spilt notochord syndrome is an extremely rare form of spinal dysraphism characterized by a complete cleft of the spine and a persistent communication between endoderm and ectoderm. A variant of split notochord syndrome was diagnosed in a 25-week-old fetus showing a prolapsed congenital colostomy and a spinal cystic lesion. The final diagnosis included protruding colon segment, imperforate anus with a rectourethral fistula and lipomyelomeningocele. The ultrasound features of the condition and the post-natal management are discussed. The neonate was successfully treated with a posterior sagittal anorectoplasty, while the lipomyelomeningocele was resected at a later stage. Copyright © 2005 John Wiley & Sons, Ltd.