Prenatal diagnosis and genetic analysis of three fetuses with duodenal atresia or stenosis
陈娜 1曾文杉 1高晓阳 1罗玉琴 1许芯
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作者信息
1. 浙江大学医学院附属妇产科医院生殖遗传科，杭州 310006
折叠
摘要
目的 探讨3例超声提示十二指肠闭锁或狭窄的胎儿的遗传学病因。 方法 选取2021年1月至2022年8月浙江大学医学院附属妇产科医院发现的3例胎儿作为研究对象，收集其临床资料。采集胎儿的羊水、脐带血及其胎儿父母的外周血样进行染色体核型分析及单核苷酸多态性微阵列(SNP array)检测。 结果 3例胎儿超声均提示十二指肠闭锁或狭窄。3例胎儿的核型均未见异常。SNP array检测发现其染色体17q12区均存在1.4 ~ 1.9 Mb的重复，且判定为致病性拷贝数变异。 结论 17q12重复可能是3例胎儿的遗传学病因。胎儿期十二指肠闭锁或狭窄应考虑染色体拷贝数变异的可能性。 Objective To explore the genetic basis for three fetuses with duodenal atresia or stenosis detected by ultrasonography. Methods Clinical data of three fetuses identified at the Women′s Hospital Affiliated to Zhejiang University School of Medicine between January 2021 and August 2022 were collected. Umbilical cord blood and amniotic fluid samples of the fetuses and peripheral blood samples of their parents were collected and subjected to G-banded chromosomal karyotyping and single nucleotide polymorphism array (SNP array) analysis. Results Prenatal ultrasound of the three fetuses revealed duodenal atresia or stenosis. No karyotypic abnormality was detected, whilst SNP array has identified 1.4 ~ 1.9 Mb duplications at 17q12 in all of them, which were all predicted to be pathogenic copy number variations (CNVs). Conclusion The 17q12 duplications probably underlay the duodenal atresia and stenosis in these fetuses, and chromosomal CNVs should be considered in duodenal atresia and stenosis.
Abstract
Objective To explore the genetic basis for three fetuses with duodenal atresia or stenosis detected by ultrasonography. Methods Clinical data of three fetuses identified at the Women′s Hospital Affiliated to Zhejiang University School of Medicine between January 2021 and August 2022 were collected. Umbilical cord blood and amniotic fluid samples of the fetuses and peripheral blood samples of their parents were collected and subjected to G-banded chromosomal karyotyping and single nucleotide polymorphism array (SNP array) analysis. Results Prenatal ultrasound of the three fetuses revealed duodenal atresia or stenosis. No karyotypic abnormality was detected, whilst SNP array has identified 1.4 ~ 1.9 Mb duplications at 17q12 in all of them, which were all predicted to be pathogenic copy number variations (CNVs). Conclusion The 17q12 duplications probably underlay the duodenal atresia and stenosis in these fetuses, and chromosomal CNVs should be considered in duodenal atresia and stenosis.
关键词
十二指肠闭锁或狭窄/17q12微重复综合征/产前诊断
Key words
Duodenal atresia and stenosis/17q duplication/Prenatal diagnosis
万方数据