Konstantinidou Anastasia E, Agrogiannis Georgios, Sifakis Stavros, Karantanas Apostolos, Harakoglou Vassileios, Kaminopetros Petros, Hatzaki Angeliki, Petersen Michael B, Karadimas Charalampos, Velissariou Voula, Velonis Stylianos, Papantoniou Nikolaos, Antsaklis Aristeidis, Patsouris Efstratios
Department of Pathology, Medical School, National Kapodistrian University of Athens, Greece.
Birth Defects Res A Clin Mol Teratol. 2009 Oct;85(10):811-21. doi: 10.1002/bdra.20617.
Genetic skeletal disorders of the fetus and infant are a large group of genetic disorders, comprising the groups formerly assigned as skeletal dysplasias (osteochondrodysplasias), dysostoses, and malformation syndromes with a skeletal component. Genetic skeletal disorders may be prenatally detected by ultrasonography or result in intrauterine or early postnatal death, constituting one difficult diagnostic field met by the pathologist who performs the perinatal autopsy.
In this retrospective study, we have gathered radiologic, physical, histopathologic, and molecular data regarding 41 cases of genetic skeletal disorders diagnosed among 1980 fetal and perinatal autopsies over a 10-year period.
Our series of cases were classified according to the 2006 Nosology and Classification of Genetic Skeletal Disorders. The overall frequency of genetic skeletal disorders was 1:48 autopsies. The FGFR3 group and osteogenesis imperfecta type 2 were the more frequently encountered disorders. The mean gestational age at autopsy was 21.9 weeks (range, 12-37 weeks). A final diagnosis was obtained in 95% of cases. Genetic skeletal disorders were detected by prenatal ultrasound in 90% of cases, with a correct typing of the disorder achieved in only 34%. Molecular analysis was confirmative in 5 cases.
The central role of the perinatal pathologist in collaboration with specialized services is essential for the correct interpretation of the radiologic, physical, and histopathologic findings, to accurately classify specific types of genetic skeletal disorders and enable genetic counseling.
胎儿和婴儿的遗传性骨骼疾病是一大类遗传性疾病，包括以前归类为骨骼发育异常（骨软骨发育异常）、骨发育不全和伴有骨骼成分的畸形综合征。遗传性骨骼疾病可通过超声产前检测到，或导致宫内或出生后早期死亡，这对进行围产期尸检的病理学家来说是一个难以诊断的领域。
在这项回顾性研究中，我们收集了10年间1980例胎儿和围产期尸检中诊断出的41例遗传性骨骼疾病的放射学、体格检查、组织病理学和分子数据。
我们的病例系列根据2006年遗传性骨骼疾病的疾病分类法进行分类。遗传性骨骼疾病的总体发生率为每48例尸检中有1例。FGFR3组和2型成骨不全是较常见的疾病。尸检时的平均胎龄为21.9周（范围为12 - 37周）。95%的病例获得了最终诊断。90%的病例通过产前超声检测到遗传性骨骼疾病，其中只有34%的疾病类型得以正确分型。分子分析在5例中得到证实。
围产期病理学家与专业服务机构合作发挥的核心作用对于正确解读放射学、体格检查和组织病理学结果、准确分类特定类型的遗传性骨骼疾病以及进行遗传咨询至关重要。
