Antenatal diagnosis of fetal skeletal malformation

Abstract

Skeletal dysplasia encompasses a heterogamous group of disorders. In this disorder, there are abnormalities involving primarily the fetal skeleton and it may involve other fetal organs. These changes can be lethal or nonlethal. Over 300 types of this abnormality have been described in the literature. The incidence of this condition in the general population is small; however, it contributes significantly to prenatal mortality and morbidity. The etiology and mechanism leading to skeletal dysplasia are not fully understood. Skeletal dysplasia can be inherited as autosomal recessive, dominant, or ever as X-linked disorder and some are of somatic origin. Exposure to external teratogenic factors is a very rare cause of skeletal dysplasia. Antenatal diagnosis of this condition is not easy because of the large number of skeletal dysplasia and the ultrasound finding can overlap between different types of skeletal dysplasia. The newer technology in two-dimensional and three-dimensional ultrasound allows more meticulous studies. In this article, we will be discussing the most common lethal and nonlethal dysplasia, common methods of evaluating and diagnosing these malformations, and the new technique of noninvasive prenatal diagnosis (NIPD), which can play a major role in prenatal diagnosis of skeletal dysplasia.