Abstract：
OBJECTIVE: The aim of this study was to describe the prenatal ultrasound findings of fetuses with skeletal dysplasia and to evaluate the genetic variations by molecular genetic analysis.
METHODS: Between August 1, 2018 and March 1, 2023, we conducted a retrospective case series at a tertiary referral center involving patients with fetal skeletal abnormalities. For cases referred for a possible diagnosis of fetal skeletal dysplasia, an ultrasound database and prenatal genetic counseling records were first searched. Terminated cases diagnosed with skeletal dysplasia by pathologic and radiologic findings and cases with skeletal dysplasia proven by postnatal clinical findings were included in the study.
RESULTS: Between 2018 and 2023, a total of 64 cases were diagnosed as skeletal dysplasia based on radiologic findings, pathologic findings, and clinical features. The median week of the first ultrasound performed on patients is 19 0/7 weeks, while the median week of the ultrasound in which skeletal dysplasia is suspected is 21 3/7 weeks. Although micromelia was evaluated as a common feature in all cases, the most common concomitant anomaly was thoracic hypoplasia. Exome sequencing analysis was achieved in 31 (48 %) of cases. In 31 cases, in total of 35 pathogenic single gene mutations and 5 VUS (variants of uncertain significance) variants composing of 23 autosomal dominant, 10 autosomal recessive and 2 X linked recessive mutations were determined.
CONCLUSIONS: Prenatal ultrasound findings can lead us to specific diagnoses, and with the appropriate molecular analysis method, a definitive diagnosis can be made without wasting time and money.
METHODS: Between August 1, 2018 and March 1, 2023, we conducted a retrospective case series at a tertiary referral center involving patients with fetal skeletal abnormalities. For cases referred for a possible diagnosis of fetal skeletal dysplasia, an ultrasound database and prenatal genetic counseling records were first searched. Terminated cases diagnosed with skeletal dysplasia by pathologic and radiologic findings and cases with skeletal dysplasia proven by postnatal clinical findings were included in the study.
RESULTS: Between 2018 and 2023, a total of 64 cases were diagnosed as skeletal dysplasia based on radiologic findings, pathologic findings, and clinical features. The median week of the first ultrasound performed on patients is 19 0/7 weeks, while the median week of the ultrasound in which skeletal dysplasia is suspected is 21 3/7 weeks. Although micromelia was evaluated as a common feature in all cases, the most common concomitant anomaly was thoracic hypoplasia. Exome sequencing analysis was achieved in 31 (48 %) of cases. In 31 cases, in total of 35 pathogenic single gene mutations and 5 VUS (variants of uncertain significance) variants composing of 23 autosomal dominant, 10 autosomal recessive and 2 X linked recessive mutations were determined.
CONCLUSIONS: Prenatal ultrasound findings can lead us to specific diagnoses, and with the appropriate molecular analysis method, a definitive diagnosis can be made without wasting time and money.
摘要：
目的：本研究的目的是描述骨骼发育不良胎儿的产前超声检查结果，并通过分子遗传学分析评估遗传变异。
方法：在2018年8月1日至2023年3月1日之间，我们在三级转诊中心进行了回顾性病例系列研究，涉及胎儿骨骼异常患者。对于可能诊断胎儿骨骼发育不良的病例，首先搜索了超声数据库和产前遗传咨询记录.研究包括通过病理和放射学发现诊断为骨骼发育不良的终止病例，以及通过出生后临床发现证明为骨骼发育不良的病例。
结果：在2018年至2023年之间，根据放射学检查结果，共有64例被诊断为骨骼发育不良，病理结果，和临床特征。对患者进行首次超声检查的中位周为190/7周，而怀疑骨骼发育不良的超声检查的中位周为213/7周。尽管在所有情况下都将微丝菌评估为共同特征，最常见的伴随异常是胸部发育不全.在31例（48％）中实现了外显子组测序分析。在31个案例中，共有35个致病性单基因突变和5个VUS（意义不确定的变异）变异，由23个常染色体显性遗传组成，确定了10个常染色体隐性和2个X连锁隐性突变。
结论：产前超声检查结果可以引导我们进行特定的诊断，并采用适当的分子分析方法，可以在不浪费时间和金钱的情况下做出明确的诊断。
方法：在2018年8月1日至2023年3月1日之间，我们在三级转诊中心进行了回顾性病例系列研究，涉及胎儿骨骼异常患者。对于可能诊断胎儿骨骼发育不良的病例，首先搜索了超声数据库和产前遗传咨询记录.研究包括通过病理和放射学发现诊断为骨骼发育不良的终止病例，以及通过出生后临床发现证明为骨骼发育不良的病例。
结果：在2018年至2023年之间，根据放射学检查结果，共有64例被诊断为骨骼发育不良，病理结果，和临床特征。对患者进行首次超声检查的中位周为190/7周，而怀疑骨骼发育不良的超声检查的中位周为213/7周。尽管在所有情况下都将微丝菌评估为共同特征，最常见的伴随异常是胸部发育不全.在31例（48％）中实现了外显子组测序分析。在31个案例中，共有35个致病性单基因突变和5个VUS（意义不确定的变异）变异，由23个常染色体显性遗传组成，确定了10个常染色体隐性和2个X连锁隐性突变。
结论：产前超声检查结果可以引导我们进行特定的诊断，并采用适当的分子分析方法，可以在不浪费时间和金钱的情况下做出明确的诊断。
