title: Perinatal Diagnostic Approach to Fetal Skeletal Dysplasias: Six Years Experience of a Tertiary Center.
abstract: Skeletal dysplasias (SDs) constitute a group of heterogeneous disorders affecting growth morphology of the chondro-osseous tissues. Prenatal diagnosis of SD is a considerable clinical challenge due to phenotypic variability. We performed a retrospective analysis of the fetal autopsies series conducted between January 2006 and December 2012 at our center. SD was detected in 54 (10%) out of 542 fetal autopsy cases which included; 11.1% thanatophoric dysplasia (n = 6), 7.4% achondroplasia (n = 4), 3.7% osteogenesis imperfect (n = 2), 1.9% Jarcho-Levin Syndrome (n = 1), 1.9% arthrogryposis (n = 1), 1.9% Dyggve-Melchior-Clausen syndrome (n = 1), 72.1% of dysostosis cases (n = 39). All SD cases were diagnosed by ultrasonography. In 20 of the cases, amniocentesis was performed, 4 cases underwent molecular genetic analyses. Antenatal identification of dysplasia is important in the management of pregnancy and in genetic counseling. Our data analysis showed that SD is usually detected clinically after the 20th gestational week. Genetic analyses for SD may provide early diagnosis and management.
authors.affiliation: a School of Medicine, Department of Pathology , Akdeniz University , Antalya , Turkey.
authors.forename: Havva Serap
authors.initials: HS
authors.lastname: Toru
authors.affiliation: b School of Medicine, Department of Pediatric Genetics , Akdeniz University , Antalya , Turkey.
authors.forename: Banu Guzel
authors.initials: BG
authors.lastname: Nur
authors.affiliation: c School of Medicine, Department of Gynecology and Obstetrics , Akdeniz University , Antalya , Turkey.
authors.forename: Cem Yasar
authors.initials: CY
authors.lastname: Sanhal
authors.affiliation: b School of Medicine, Department of Pediatric Genetics , Akdeniz University , Antalya , Turkey.
authors.forename: Ercan
authors.initials: E
authors.lastname: Mihci
authors.affiliation: c School of Medicine, Department of Gynecology and Obstetrics , Akdeniz University , Antalya , Turkey.
authors.forename: İnanç
authors.initials: İ
authors.lastname: Mendilcioğlu
authors.affiliation: d School of Medicine, Department of Medical Biology and Genetics , Akdeniz University , Antalya , Turkey.
authors.forename: Elanur
authors.initials: E
authors.lastname: Yilmaz
authors.affiliation: a School of Medicine, Department of Pathology , Akdeniz University , Antalya , Turkey.
authors.forename: Gulden Tasova
authors.initials: GT
authors.lastname: Yilmaz
authors.affiliation: a School of Medicine, Department of Pathology , Akdeniz University , Antalya , Turkey.
authors.forename: Irem Hicran
authors.initials: IH
authors.lastname: Ozbudak
authors.affiliation: e School of Medicine, Department of Radiology , Akdeniz University , Antalya , Turkey.
authors.forename: Kamil
authors.initials: K
authors.lastname: Karaali
authors.affiliation: d School of Medicine, Department of Medical Biology and Genetics , Akdeniz University , Antalya , Turkey.
authors.forename: Ozgul M
authors.initials: OM
authors.lastname: Alper
authors.affiliation: a School of Medicine, Department of Pathology , Akdeniz University , Antalya , Turkey.
authors.forename: Fatma Şeyda
authors.initials: FŞ
authors.lastname: Karaveli
mesh_terms: D000015:Abnormalities, Multiple / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D001344:Autopsy; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D001842:Bone and Bones / Q000002:abnormalities; D005260:Female; D005315:Fetal Diseases; D006801:Humans; D008297:Male; D011247:Pregnancy; D011859:Radiography; D012189:Retrospective Studies
keywords: fetal autopsy; genetic; skeletal malformations