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Iniencephaly is a rare neural tube defect, characterized by the classical triad of extreme retroflexion of the head, occipital bone defect and variable rachischisis. Its etiology is not fully understood: it might arise due to anomalies of genes controlling the planar cell polarity pathway, affecting the dorso-ventral orientation of the body axis. Risk factors include low socio-economic status and lack of folic acid supplementation. In up to 90% of cases involves female gender. We report a case diagnosed prenatally at 13 weeks by ultrasonography. It was characterized by abnormal shape of the fetus, with no distinct separation between the head and the body, extreme retroflexion of the fetal head, significant shortening of the spine, hypotelorism and holoprosencephaly. Three-dimensional (3D) ultrasound reconstruction evidenced the occiput absence and the same marked retroflexion with lordotic cervical spine, but with clear, distinct, un-fussed vertebrae. The parents opted to have an elective termination of pregnancy. Pathological examination confirmed the diagnosis, showing a perfect correlation with the ultrasound findings. The anomaly is incompatible with life, and early antenatal ultrasound diagnosis is advisable. Suggestive 3D images were helpful for illustrating these issues to the parents during prenatal counseling.

Congenital high airway obstruction syndrome (CHAOS) is a rare disorder defined as any fetal abnormality that obstructs the larynx or trachea. Most cases are sporadic with an unknown incidence. We report a case that was diagnosed prenatally at 21 gestational weeks, which showed a typical CHAOS pattern with expanded hyperechogenic lungs, inverted diaphragms, dilated trachea and ascites. There were no other fetal abnormalities and the karyotype was normal (46xy). The parents opted to have an elective termination of pregnancy. Pathological examination confirmed the diagnosis, showing infraglottic atresia (type II) and complete trachea obstruction. The disease is incompatible with life, and antenatal ultrasound diagnosis is advisable. However, few cases have been reported which managed with neonatal interventions such as ex-utero intrapartum treatment.