Department of Obstetrics, Division of Perinatology, Zeynep Kamil Women and Children Diseases Education and Research Hospital, Istanbul, Türkiye.
Department of Genetics, Zeynep Kamil Women and Children Diseases Education and Research Hospital, Istanbul, Türkiye.
J Perinat Med. 2024 Aug 2;52(8):886-895. doi: 10.1515/jpm-2023-0355. Print 2024 Oct 28.
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.
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.
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.
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.
本研究旨在描述骨骼发育不良胎儿的产前超声表现，并通过分子遗传学分析评估遗传变异。
2018 年 8 月 1 日至 2023 年 3 月 1 日，我们在一家三级转诊中心进行了一项回顾性病例系列研究，纳入了胎儿骨骼异常的患者。对于因疑似胎儿骨骼发育不良而转诊的病例，首先搜索超声数据库和产前遗传咨询记录。将通过病理和影像学发现诊断为骨骼发育不良的终止病例以及通过产后临床发现证实为骨骼发育不良的病例纳入研究。
2018 年至 2023 年期间，共有 64 例患者根据影像学、病理学和临床特征诊断为骨骼发育不良。患者首次进行超声检查的中位数孕周为 19 0/7 周，而怀疑骨骼发育不良的中位数孕周为 21 3/7 周。尽管所有病例均评估为肢体短小，但最常见的伴发异常为胸廓发育不全。31 例（48%）进行了外显子组测序分析。在 31 例中，共确定了 35 种致病性单基因突变和 5 种意义未明的变异（VUS），包括 23 种常染色体显性、10 种常染色体隐性和 2 种 X 连锁隐性突变。
产前超声表现可提示特定诊断，结合适当的分子分析方法，无需浪费时间和金钱即可做出明确诊断。
