Abstract The primary characteristic of Goldenhar is hemifacial macrosomia/facial asymmetry. The syndrome is likely sporadic, although more recently genetic loci and teratogenic exposures have been reported as likely etiologies. It…
Abstract Fraser syndrome is a rare congenital malformation syndrome characterized by cryptophthalmos, syndactyly, and urogenital defect. It has been proposed that diagnosis be based on two major and one minor…
Abstract Cornelia de Lange syndrome (CdLS) should be considered in any fetus with growth restriction in addition to limb or craniofacial abnormalities, with or without a congenital heart defect. Classic…
Abstract Fryns syndrome is a rare autosomal recessive disorder characterized by diaphragmatic defects, distal limb hypoplasia, facial dysmorphism, and associated major anomalies. It is the most common syndrome associated with…
Abstract CHARGE syndrome is an autosomal dominant disorder characterized by multiple congenital malformations along with developmental and cognitive impairments. The incidence of CHARGE syndrome is 1 : 8500 to 1 : 10,000. The only…
Abstract Multiple indications exist for use of the biophysical profile (BPP) in antepartum surveillance. The BPP is usually initiated only after 32 weeks for patients at risk of stillbirth, including…
Abstract Immune hydrops is fetal hydrops resulting from the passage of maternal antibodies into the fetal compartment causing fetal anemia and subsequent hydrops. This disease process can affect both the…
Abstract Preterm birth affects 15 million babies per year and leads to significant newborn morbidity and mortality. A short cervix is the strongest clinical risk factor for predicting preterm birth….
Abstract Nonimmune hydrops fetalis (NIHF) encompasses all causes of fetal hydrops that are not caused by the passage of maternal antibodies into the fetal compartment. Secondary to the decreasing prevalence…
Abstract Cystic hygroma (CH) is a relatively common malformation of the lymphatic system. It is important for clinicians to be familiar with the condition because it is one of the…
