| 摘要: |
| 本文报道了1例胎儿Xp22.31重复的产前诊断病例,孕妇于23 W+3 d行羊膜腔穿刺术,进行胎儿羊水细胞的高通量CNV-seq和染色体核型分析,胎儿CNV-seq结果提示Xp22.31存在1.68Mb的微重复,染色体核型结果未见异常,经合理产前咨询后,决定进行引产。我们通过相关文献的探讨,为孕妇产前咨询提供参考。 |
| 关键词: ［］ 产前诊断 Xp22.31 微重复 透明隔 |
| DOI： |
| 投稿时间：2022-12-27修订日期：2023-11-23 |
| 基金项目:甘肃省自然科学基金(21JR1RAO46)；兰州市科学技术局(2020-ZD-12,2020-RC-56) |
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| Prenatal diagnosis of Xp22.31 microduplication with malformation：case report |
| Yu-lan Zheng,Quanlin Li,Zhong-feng Tang,Lei Yang,Feilei Yan,Wenjing Guo,Jiawei Song |
| (Center of Ultrasound medical,Gansu Provincial Maternity and Child-care Hospital,Gansu) |
| Abstract: |
| This paper reports a case of prenatal diagnosis of fetal Xp22.31 duplication. The pregnant woman underwent amniocentesis at 23 W+3 d for high-throughput CNV seq and karyotype analysis of fetal amniotic fluid cells. The results of fetal CNV seq indicated that there was 1.68 Mb microduplication in Xp22.31, and the karyotype results were normal. After reasonable prenatal consultation, the decision was made to induce labor. Through the discussion of relevant literature, we can provide reference for prenatal counseling of pregnant women。 |
| Key words: Prenatal diagnosis Xp22.31 microduplication Septum Pellucidum |
