Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Medical Laboratory Science and Biotechnology, College of Medical & Health Science, Asia University, Taichung, Taiwan.
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan.
Taiwan J Obstet Gynecol. 2024 Nov;63(6):918-921. doi: 10.1016/j.tjog.2024.09.011.
We present application of chromosome microarray analysis (CMA) in the detection of chromosome 5q interstitial deletion of 5q14.3-q31.1 in a second-trimester fetus with multiple congenital anomalies on fetal ultrasound.
A 30-year-old, gravida 2, para 1, woman was found to have multiple anomalies in the fetus at 14 weeks of gestation by prenatal ultrasound screening. The fetal anomalies included echogenic bowel, a left neck cyst, hypoplastic left heart, single umbilical artery and bilateral clubfeet. The pregnancy was subsequently terminated, and a 64-g malformed fetus was delivered. CMA by array comparative genomic hybridization (aCGH) analysis on the DNA extracted from umbilical cord revealed the result of arr 5q14.3q31.1 (83,557,042-130,841,093) × 1.0 [GRCh37] with a 47.3-Mb 5q14.3-q31.1 deletion encompassing 95 OMIM genes including NR2F1, MEF2C, APC, KCNN2 and FBN2. Quantitative fluorescent polymerase chain reaction (QF-PCR) analysis on the DNA extracted from parental bloods and umbilical cord using the informative markers of D5S2496 (5q21.3) and D5S818 (5q23.2) showed that the fetus inherited only one maternal allele, indicating a paternal origin of the interstitial 5q deletion in the fetus.
CMA is useful for genetic investigation of unknown congenital anomalies detected by fetal ultrasound.
我们介绍了染色体微阵列分析（CMA）在检测胎儿超声检查发现的多发性先天畸形胎儿 5q 染色体 5q14.3-q31.1 间插缺失中的应用。
一名 30 岁、孕 2 产 1 的女性在妊娠 14 周的产前超声筛查中发现胎儿有多种异常。胎儿异常包括回声性肠、左侧颈部囊肿、左心发育不全、单脐动脉和双侧足内翻。随后终止妊娠，分娩出一个 64 克畸形胎儿。从脐带提取的 DNA 进行的阵列比较基因组杂交（aCGH）分析 CMA 显示结果为 arr 5q14.3q31.1（83,557,042-130,841,093）×1.0 [GRCh37]，5q14.3-q31.1 缺失 47.3Mb，包含 95 个 OMIM 基因，包括 NR2F1、MEF2C、APC、KCNN2 和 FBN2。利用 D5S2496（5q21.3）和 D5S818（5q23.2）的信息性标记物，对父母血液和脐带提取的 DNA 进行定量荧光聚合酶链反应（QF-PCR）分析，显示胎儿仅遗传了一个母体等位基因，表明胎儿的 5q 间插缺失来源于父源。
CMA 对胎儿超声检查发现的未知先天性畸形的遗传研究很有用。
