Early Ultrasound Suspect of Thanatophoric Dysplasia Followed by First Trimester Molecular Diagnosis

摘要

Bone dysplasias are a highly heterogeneous group of inherited connective tissue disorders, caused by an intrinsic perturbation of the development of the chondro-osseous tissue. To date, approximately 400 distinct clinical entities belong to this group and the molecular basis has been unraveled in approximately 50% of them [Superti-Furga and Unger, 2007]. Differential diagnosis is essentially clinical and based on expert evaluation of the skeletal survey. However, in recent years, molecular studies are earning a growing role in the assessment and management of individuals and families affected by constitutional bone disorders. A major application of molecular testing is prenatal diagnosis, especially in the case of lethal bone dysplasias, such as thanatophoric dysplasias (TDs). Nevertheless, at the moment, molecular testing is usually applied as either post-mortem confirmation of the diagnosis or prenatal diagnostic tool in subsequent pregnancies after the birth of a previous affected child.