Introduction Congenital high airway obstruction syndrome (CHAOS) is a rare fetal anomaly that is associated with a high mortality (80%–100%). Prenatal diagnosis is clinically relevant in parental counseling and decision making regarding fetal surveillance, planning of fetal intervention, method of…
Introduction The prenatal diagnosis of fetal goiter was first described in 1980. Advances in prenatal imaging and fetal hormonal physiology have enabled the identification of some severe but treatable disorders in the fetus. The potential benefits to the fetus of…
Introduction Fetal tumors are rare; teratomas are the most common histologic type. The neck is the most common location after the sacrococcygeal area for teratomas. The tissues found in fetal and infant teratomas are essentially the same regardless of the…
Introduction Cystic hygroma (CH) is a congenital lymphatic malformation. It is the most frequently observed fetal neck pathology on prenatal ultrasound (US). Disease Definition CH is an abnormality of the vascular lymphatic system, characterized by the development of distended fluid-filled…
Introduction Facial dysmorphism is a classical feature of many syndromes, and commonly includes one or a combination of facial features such as low-set ears, hypotelorism or hypertelorism, micrognathia or retrognathia, frontal bossing, and sloping forehead. Considering some of these features…
Introduction The fetal mandible is a common site for defects caused by numerous genetic conditions and adverse environmental factors. When an anomaly in the fetal mandible is detected on ultrasound (US), the clinician should look for other anomalies in the…
Introduction Congenital choanal atresia is an uncommon condition resulting from a failure of the oronasal membrane to break down. Prenatal diagnosis of choanal atresia is rarely described, and postnatal confirmation is required. However, this condition can be suspected in the…
Introduction Orbits can be identified from 10 to 12 weeks of gestation by transvaginal ultrasound. On ultrasound evaluation, orbits appear as echolucent circles, and inside these structures lenses can be indentified as small echogenic circular structures. In normal development, ocular…
Introduction Orofacial clefts, which include cleft lip (CL), cleft lip and palate (CLP), and cleft palate alone (CP), include a range of disorders affecting the lips and oral cavity, and represent the most common craniofacial malformation identified in the newborn.…
Introduction Talipes equinovarus (clubfoot) is an abnormality of the foot position. It may be positional, congenital (isolated), or part of a syndrome. Clubfoot resulting from in utero positional forces, as may occur with prolonged severe oligohydramnios, multiple gestation, or breech…