Three cases of congenital immature intracranial teratomas were examined by autopsy. The fetuses were diagnosed prenatally as macrocephalic and hydrocephalic due to skull-occupying lesions. These fetuses were born alive at 32, 31, and 36 weeks gestation, respectively, via Cesarean section. Intracranial teratoma in the first case was diagnosed by MRI and in the second and third cases by ultrasound. All tumors were deemed to be unresectable. Congenital CNS teratoma should be considered in the differential diagnosis of fetuses diagnosed with macrocephaly or hydrocephaly.

Exposure of the fetus to indomethacin by administration of the drug to the mother may cause many side effects, including premature closure of the ductus arteriosus. Hypoxia is a predisposing factor for premature ductal closure and often occurs after maternal indomethacin therapy. We present two sets of monozygotic twins with twin-to-twin transfusion, where in utero ductal closure occurred in the donor twin while the recipient twin appeared unaffected. This selective closure of the ductus arteriosus suggests that the affected twin was predisposed to hypoxia and thus was more susceptible to ductal closure in response to indomethacin exposure.

Hypospadias is a common congenital anomalies, yet its molecular basis remains unknown. Recent studies have linked perturbations in the Hedgehog signaling pathway to hypospadias. However, the expression of Sonic hedgehog (Shh) has not been reported during genital development. Immunohistochemical staining for Shh and its receptors was applied to 10 human fetal penises ranging from 12 to 29 weeks gestation. The intensity of Shh staining was greatest in the urethral epithelium at 14 weeks gestation, correlating with the time of urethral tubularization. Results suggest a role for Shh in human male genital development.

Congenital diaphragmatic hernia (CDH) is a defect seen in approximately 1 in 3500 live births. A complication of CDH is the herniation of abdominal contents into the chest cavity through the defect, which may prevent normal intrauterine development of the lungs. The resultant pulmonary hypoplasia and pulmonary hypertension causes respiratory distress in the newborn, usually requiring some form of intervention before the defect is surgically corrected (Embryology for Surgeons. Baltimore, MD: Williams & Wilkins; 1994:491-539). Extracorporeal membrane oxygenation, which involves cannulation of the superior vena cava (SVC), is often used to manage these infants. However, the mediastinal shift that often occurs with CDH can cause an abnormal acute angulation of the SVC, which during cannulation can result in trauma and possible perforation of the SVC. We present 2 autopsy cases where the infants accidentally died as a result of extracorporeal membrane oxygenation cannulation.