[Prenatal diagnosis of a fetus with mosaicism ring chromosome 2].

Ying Zhou, Lingling Xu, Lulu Yan, Changshui Chen, Haibo Li
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Abstract

Objective: To explore the genetic basis for a fetus with increased risk for Down syndrome and cardiac anomalies discovered by prenatal ultrasonography.

Methods: A pregnant woman presented at the Women and Children's Hospital of Ningbo University on August 21, 2023 were selected as the study subject. Clinical data were retrospectively analyzed. Maternal peripheral blood sample was collected for non-invasive prenatal testing (NIPT) based on fetal free DNA. Amniotic fluid sample was collected for G-banded chromosomal karyotyping analysis. Trio-whole exome sequencing (WES) was also carried out on the amniotic fluid sample and peripheral blood samples from the couple. Copy number variation (CNV) identified by the WES was validated by real-time fluorescent quantitative PCR (qPCR). Chromosomal karyotyping was also carried out for the couple. This study has been approved by the Medical Ethics Committee of Women and Children's Hospital of Ningbo University (No. EC2020-048).

Results: Ultrasound examination at 22+6 gestational weeks had indicated intrauterine growth retardation (IUGR). The fetus was also found to have ventricular septal defect, overriding aorta and pulmonary stenosis. NIPT indicated a low risk for aneuploidy of chromosomes 13, 18 and 21. G-banding analysis revealed that the fetus had a karyotype of 45,XY,-2[5]/46,XY,r(2)(p25q37)[55]. WES has identified a deletion of approximately 1 614.28 kb in the 2p25.3 region, namely seq[hg38]del(2)(p25.3p25.3)chr2: g.10500_1624775del. The same deletion was found in neither parent, suggesting a de novo origin. qPCR results confirmed the expression of target genes in the fetal sample to be significantly reduced, whilst no similar anomaly was found in either parent.

Conclusion: The mosaicism ring chromosome 2 probably underlay the IUGR and cardiovascular malformations in this fetus.

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[2 号染色体嵌合环胎儿的产前诊断]。
目的探讨产前超声检查发现的唐氏综合征和心脏畸形风险增加的胎儿的遗传学基础:方法:选取 2023 年 8 月 21 日在宁波大学附属妇女儿童医院就诊的一名孕妇作为研究对象。回顾性分析临床数据。采集孕妇外周血样本,用于基于胎儿游离 DNA 的无创产前检测(NIPT)。采集羊水样本进行 G 带染色体核型分析。还对这对夫妇的羊水样本和外周血样本进行了三重全外显子组测序(WES)。通过实时荧光定量 PCR (qPCR) 验证了 WES 发现的拷贝数变异 (CNV)。此外,还对这对夫妇进行了染色体核型分析。本研究已获得宁波大学附属妇女儿童医院医学伦理委员会批准(编号:EC2020-048):22+6孕周时的超声波检查显示胎儿宫内发育迟缓(IUGR)。胎儿还被发现患有室间隔缺损、主动脉覆膜和肺动脉狭窄。NIPT 显示 13、18 和 21 号染色体非整倍体的风险较低。G 带分析显示胎儿的核型为 45,XY,-2[5]/46,XY,r(2)(p25q37)[55]。WES 发现在 2p25.3 区域有一个约 1 614.28 kb 的缺失,即 seq[hg38]del(2)(p25.3p25.3)chr2:g.10500_1624775del。qPCR 结果证实,胎儿样本中目标基因的表达明显减少,而父母双方均未发现类似异常:结论:2号染色体嵌合环可能是该胎儿IUGR和心血管畸形的基础。
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来源期刊
中华医学遗传学杂志
中华医学遗传学杂志 Medicine-Medicine (all)
CiteScore
0.50
自引率
0.00%
发文量
9521
期刊介绍: Chinese Journal of Medical Genetics is a medical journal, founded in 1984, under the supervision of the China Association for Science and Technology, sponsored by the Chinese Medical Association (hosted by Sichuan University), and is now a monthly magazine, which attaches importance to academic orientation, adheres to the scientific, scholarly, advanced, and innovative, and has a certain degree of influence in the industry. Chinese Journal of Medical Genetics is a journal of Peking University, and is now included in Peking University Journal (Chinese Journal of Humanities and Social Sciences), CSCD Source Journals of Chinese Science Citation Database (with extended version), Statistical Source Journals (China Science and Technology Dissertation Outstanding Journals), Zhi.com (in Chinese), Wipu (in Chinese), Wanfang (in Chinese), CA Chemical Abstracts (U.S.), JST (Japan Science and Technology Science and Technology), and JST (Japan Science and Technology Science and Technology Research Center). ), JST (Japan Science and Technology Agency), Pж (AJ) Abstracts Journal (Russia), Copernicus Index (Poland), Cambridge Scientific Abstracts, Abstracts and Citation Database, Abstracts Magazine, Medical Abstracts, and so on.
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