Prenatal diagnosis of neurofibromatosis type 1: sonographic and MRI findings

Prenatal ultrasound and magnetic resonance imaging (MRI) demonstrated a large oropharyngeal tumor, and cardiac and cranial abnormalities consistent with neurofibromatosis type 1 (NF1) in a third-trimester fetus, which were confirmed on postmortem examination. Sonographic features of NF1 are generally nonspecific; MR examination provided significant additional information, facilitating prenatal diagnosis. Copyright © 2006 John Wiley & Sons, Ltd.     

Fetal heart scanning in the first trimester

The detailed study of the fetal cardiac anatomy in the first trimester of pregnancy by means of ultrasound, transvaginally or transabdominally, is feasible and remains a safe procedure provided thermal and mechanical indices are taken into account. Optimal time for successful imaging of the four chambers and great arteries in early gestation appears to be between 13 to 14 weeks. In experienced hands, first-trimester fetal echocardiography is accurate in detecting major structural cardiac abnormalities and yields a high negative predictive value. Thus, in a clinical setting, it can be offered to families considered to be ‘at risk’ of cardiac defects (e.g. those with previous family history or when fetal nuchal translucency is increased) and can be a powerful tool to reassure families regarding normality of major cardiac structures and connections. However, the early detection of an important structural abnormality (chromosomally normal or not) may be associated with a high termination rate if this is an acceptable option. The high prevalence of associated chromosomal and extracardiac abnormalities for many of the high-risk families, who may benefit from this approach, cannot be ignored. Therefore, fetal heart scanning in the first trimester should be performed in conjunction with detailed first-trimester obstetric scanning. Copyright © 2004 John Wiley & Sons, Ltd.     

Prenatal sonographic features of esophageal and ileal duplications at 18 weeks of gestation

We present a case of esophageal and ileal duplications at 18 weeks of gestation. Transabdominal ultrasonography of the fetus showed multiple cystic masses of 12 to 17 mm in diameter and continuity with each other in the abdomen and a unilocular cystic mass of 15 mm in diameter in the posterior mediastinum. The cystic mass filled the abdominal cavity with signs of intestinal obstruction. The thoracic cystic mass was tubular, sausage-shaped and behind the heart, which was displaced to the antero-lateral wall of the chest. Amniocentesis revealed a normal fetal karyotype 46,XY. Peristaltic movements in the abdominal cystic structure at 30 weeks of gestation suggested dilated intestinal loops. Follow-up ultrasound examinations showed polyhydramnios with amniotic fluid index of 30 cm and gradual enlargement of the cystic structures to 50 mm in the abdomen and 30 mm in the posterior mediastinum at 38 weeks of gestation. A male infant weighing 3900 g was delivered. Postnatal ultrasonographic examination and the findings of magnetic resonance imaging also suggested enteric duplication cysts. Prenatal diagnosis allowed prompt neonatal evaluation and surgical treatment of the esophageal and the ileal duplications, which was confirmed by pathological examination. Copyright © 2004 John Wiley & Sons, Ltd.