[通过联合产前超声检查和全外显子组测序诊断2型atelosteogenesis胎儿]
[Diagnosis of a fetus with atelosteogenesis type 2 through combined prenatal ultrasonography and whole exome sequencing].
作者信息
Li Jie, Meng Yilin, Li Meihui, Liu Caixia, Li-Ling Jesse, Lyu Yuan
机构信息
Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, Key Laboratory of Maternal-Fetal Medicine of Liaoning Province, Shenyang, Liaoning 110004, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Jul 10;37(7):767-770. doi: 10.3760/cma.j.issn.1003-9406.2020.07.016.
OBJECTIVE
To explore the genetic basis for fetus with short limbs detected by prenatal ultrasonography.
METHODS
Results of clinical imaging of the fetus was collected. Amniotic fluid sample was collected through amniocentesis for the extraction of fetal DNA. Whole exome sequencing was carried out to detect variants related to the clinical phenotypes. Candidate variant was verified by Sanger sequencing.
RESULTS
Prenatal ultrasound showed that the fetus had short limbs but no other abnormality. Whole exome sequencing has identified that the fetus carried two heterozygous pathogenic variants c.484G>T and c.1436dupA of the SLC26A2 gene, for which its mother and father were heterozygous carriers, respectively.
CONCLUSION
The fetus was diagnosed with atelosteogenesis type 2 by combined prenatal ultrasonography and whole exome sequencing, which may be attributed to the compound heterozygous variants of the SLC26A2 gene. Above findings provided evidence for the diagnosis of the fetus and genetic counseling.
目的
探讨产前超声检查发现四肢短小胎儿的遗传基础。
方法
收集胎儿的临床影像结果。通过羊膜腔穿刺采集羊水样本以提取胎儿DNA。进行全外显子组测序以检测与临床表型相关的变异。候选变异通过桑格测序进行验证。
结果
产前超声显示胎儿四肢短小但无其他异常。全外显子组测序已确定该胎儿携带SLC26A2基因的两个杂合致病性变异c.484G>T和c.1436dupA，其母亲和父亲分别为杂合携带者。
结论
通过产前超声检查和全外显子组测序联合诊断该胎儿为2型软骨发育不全，这可能归因于SLC26A2基因的复合杂合变异。以上发现为该胎儿的诊断和遗传咨询提供了依据。
Zotero 插件