Repeated clinical case of fetal congenital malformation in a family with hereditary short-rib thoracic dysplasia type 3

Abstract

The article shows the genetic causes of recurrent fetal malformations on the example of a clinical case of hereditary short-rib thoracic dysplasia type 3. Congenital malformations of the fetus are most often sporadic; however, in rare cases, this pathology can recur in one married couple, and the formation of congenital anomalies during subsequent pregnancy can both have general syndromes and affect various systems and organs. Short-rib thoracic dysplasia type 3 is a rare genetic disorder with autosomal recessive inheritance. Patients for whom the carriage of pathogenic alleles in genes associated with congenital skeletal anomalies has been confirmed require a detailed clinical examination. Such married couples want expert-level medical genetic counseling with performing additional genetic tests, if necessary. This may clarify the diagnosis, which will determine further tactics for preparing the couple for the next pregnancy on their own or using assisted reproductive technology programs and / or surrogate motherhood.