Diagnostic distribution and postnatal evaluation of prenatally detected short extremity

Genetic disorders of the skeleton are clinically and etiologically heterogeneous group of disorders which are caused by the development and growth of bone or cartilaginous tissues due to the, various structural disorders, metabolic pathways and regulatory disorders of the growth plate. Osteochondrodysplasia (skeletal dysplasia) holds an important and distinctive place within this group. The timely and accurate diagnosis of the skeletal dysplasia may prevent significant morbidities that accompany these disorders, and also provide important contributions and counseling to families with habituel abortus/repetitive pregnancy losses.In this study demographic, maternal / paternal, prenatal, natal characteristics, postnatal diagnostic distribution and follow-up processes of 115 patients with a diagnosis of short extremity in routine prenatal ultrasonography were evaluated. Totally,104 patients were analyzed because 11 patients weren't evaluated in the postnatal period. Of the 104 patients, 19 (18.2%) were autopsied, 12 (11.6%) died during the follow-up and 73 (70.2 %) were alive. Diagnostic distribution of 104 patients; (75.9%) were skeletal genetic diseases, 8 (7.6%) were chromosomal disease, 7 (6.7%) were normal, 2 (1.9%) were syndromic and 8 (%7.6) were without any diagnosis, respectively. According to 2015 Nosology and Classification of 77 patients in the skeleton genetic disorders group, 30 patients (%39.0) were in Group 1 FGFR3 chondrodysplasia, 8 patients (%10.4) were in Group 2 colllagen type 2 and 6 patients (%7.8) were in Group 25 osteogenezis imperfecta and decreased bone density. During the study 5 new patients were newly diagnosed and included in the group of skeletal disorders. As a result, genetic disorder of the skeleton are common among the fetuses with short extremity finding in the prenatal period. Skeletal dysplasia should be suspected especially when short femur is seen prenatally. Fetuses with shortness of long bone measurements should be evaluated at a specialized tertiary center for the diagnosis of skeletal dysplasia. Additionally, false positive rate of the fetal ultrasonography should be taken in the consideration.