Unit of Fetal Medicine, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai, P.R. China.
North East Thames Regional Genetics Laboratory, Great Ormond Street NHS Foundation Trust, London, UK.
Prenat Diagn. 2018 Aug;38(9):692-699. doi: 10.1002/pd.5298. Epub 2018 Jul 3.
This study aimed to perform an accurate and precise diagnosis for fetuses with suspected skeletal anomalies based on an incomplete and limited ultrasound phenotype.
Proband-only targeted skeletal gene panel sequencing was performed on 12 families who had fetuses with suspected skeletal anomalies based on ultrasound evaluations at a mean gestational age of 24 weeks and 3 days. The fetuses all had normal standard genetic testing yield (karyotyping and microarray).
In 10 of 12 fetuses, panel sequencing provided a diagnosis or possible diagnosis with identification of variants in the following genes: FGFR3, COL1A2, IHH, COL2A1, and DYNC2H1. Two cases revealed novel variants in COL2A1 and DYNC2H1.
Our study suggests that targeted skeletal gene panel sequencing is highly sensitive for prenatal diagnosis of fetuses presenting with unexpected ultrasound findings suggestive of a skeletal dysplasia.
本研究旨在对超声表现不完整、有限的疑似骨骼畸形胎儿进行准确、精密的诊断。
对 12 个具有疑似骨骼畸形胎儿的家庭，在平均孕龄 24 周 3 天时，仅对先证者进行靶向骨骼基因panel 测序。所有胎儿的标准遗传检测（核型分析和微阵列）均正常。
在 12 个胎儿中的 10 个中，通过panel 测序提供了诊断或可能的诊断，并在以下基因中发现了变异：FGFR3、COL1A2、IHH、COL2A1 和 DYNC2H1。两例显示 COL2A1 和 DYNC2H1 中存在新的变异。
我们的研究表明，针对骨骼的基因panel 测序对于产前诊断表现出超声结果提示骨骼发育不良的胎儿具有高度敏感性。
