Prenatal diagnosis of fetal skeletal dysplasia using targeted next-generation sequencing: an analysis of 30 cases

被引:0
作者
Yan Liu
Li Wang
Yi-Ke Yang
Ying Liang
Tie-Juan Zhang
Na Liang
Li-Man Yang
Si-Jing Li
Dan Shan
Qing-Qing Wu
机构
[1] Capital Medical University,Department of Obstetrics, Beijing Obstetrics and Gynecology Hospital
[2] Capital Medical University,Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital
[3] Capital Medical University,Department of Radiology, Beijing Obstetrics and Gynecology Hospital
来源
Diagnostic Pathology | / 14卷
关键词
Fetal skeletal dysplasia; Chromosomes; Targeted next-generation sequencing; Whole genome sequencing; Prenatal diagnosis;
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[1]  
Rawhani R(2018)Antenatal diagnosis of fetal skeletal malformation Donald Sch J Ultrasound Obstet Gynecol 12 116-123
[2]  
Abdellatif A(2015)Fetal skeletal dysplasias in a tertiary care center: radiology, pathology, and molecular analysis of 112 cases Clin Genet 87 330-337
[3]  
Abushama M(2012)Analysis of skeletal dysplasias in the Utah population Am J Med Genet A 158A 1046-1054
[4]  
Ahmed B(1986)The birth prevalence rates for the skeletal dysplasias J Med Genet 23 328-332
[5]  
Barkova E(2018)Prenatal diagnosis of skeletal dysplasias using a targeted skeletal gene panel Prenat Diagn 38 692-699
[6]  
Mohan U(2015)Advances in skeletal dysplasia genetics Annu Rev Genomics Hum Genet 16 199-227
[7]  
Chitayat D(2016)Approach to the diagnosis of skeletal dysplasias: experience at a center with limited resources J Clin Ultrasound 44 529-539
[8]  
Keating S(2015)Perinatal diagnostic approach to fetal skeletal Dysplasias: six years experience of a tertiary center Fetal Pediatr Pathol 34 287-306
[9]  
Toi A(2015)Foetal radiography for suspected skeletal dysplasia: technique, normal appearances, diagnostic approach Pediatr Radiol 45 536-548
[10]  
Frank J(2007)Prenatal ultrasound diagnosis and prognosis of fetal limb deformities Chin J Practic Gynecol Obstet 23 399-400