Ultrasonic Diagnosis of Fetal Bone and Small Parts

Abstract

The prenatal diagnosis of fetal bone and small parts is a challenging task to the variable disorders and large number of possible diagnosis. Fetal limb anomalies may be congenital or acquired in utero. The former occur as anomalies either systemically or, in some limbs, due to hereditary or sporadic impairment in the formation or development of bone, cartilage or soft tissue. Acquired anomalies are caused by mechanical factor of an amniotic band or oligohydramnios. Both types present functional and cosmetic abnormalities, and skeletal dysplasia in particular includes lethal diseases, which makes prenatal diagnosis in such cases highly important, both medically and societally. Diagnostic imaging for prenatal diagnosis is accomplished by ultrasound, MRI and CT scan, and chromosomal and genetic diagnosis is also performed as needed. We focus on skeletal dysplasia to review prenatal diagnosis of fetal bone and small part anomalies by noninvasive ultrasound. For the authors as perinatologists, this is the imaging modality of choice.

Jeune syndrome: Asphyxiating thoracic dystrophy and its genetic diagnosis – A rare case report

“…Possibly because of the lack of reported data and paucity of structured perinatal database in our country, actual incidence is not available in the literature. The condition is characterized by short-limbed dwarfism, a small narrow bell-shaped thorax, micromelia, varying degrees of rhizomelic brachymelia, polydactyly of hands and feet, pelvic abnormalities, and renal anomalies with a considerable neonatal mortality up to 90% as a result of respiratory distress [3].…”