Clinical and ultrasonographic hints for prenatal diagnosis and management of the lethal skeletal dysplasias: a review of the current literature

Skeletal dysplasias are a large, heterogeneous group of conditions with different prognosis for every individual disease entity that involves the formation and growth of bone. Prenatal diagnosis of skeletal dysplasias is a diagnostic challenge for obstetricians. Overall high detection rates can be achieved by detailed ultrasonographic examination of the fetuses suspected to have any skeletal dysplasia. Differentiation of lethal skeletal dysplasias from non-lethal ones is extremely important for parent counseling. As diagnostic accuracy of a specific diagnosis is not always possible, prediction of prognosis is of importance for obstetric management of affected couples. External examinations of the neonate with postnatal photographs and radiographs, autopsy in lethal cases, and sparing the tissue specimens for possible molecular genetic, biochemical, enzymatic and pathological testing studies are extremely important for making an accurate diagnosis. In this review, articles have been extracted from “PubMed” and “Cochrane Database” using “prenatal diagnosis of skeletal dysplasia” word group, dated between 1993 and 2011. The prominent features of specific disease entities to facilitate clinicians’ decision-making process about prognosis when they encounter a fetus suspected to have a skeletal dysplasia have been summarized in this review.