胎儿超声检查发现家族性 2p15 微重复与肺动脉狭窄、单脐动脉和左后轴足多趾有关的产前诊断。
Prenatal diagnosis of familial 2p15 microduplication associated with pulmonary artery stenosis, single umbilical artery and left foot postaxial polydactyly on fetal ultrasound.
机构信息
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 University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan; Department of Medical Laboratory Science and Biotechnology, Asia University, Taichung, Taiwan.
Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.
出版信息
Taiwan J Obstet Gynecol. 2021 Jan;60(1):161-164. doi: 10.1016/j.tjog.2020.11.025.
OBJECTIVE
We present prenatal diagnosis of familial 2p15 microduplication associated with pulmonary artery stenosis, single umbilical artery and left foot postaxial polydactyly on fetal ultrasound.
CASE REPORT
A 34-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed the karyotype of 46,XX. Prenatal ultrasound examination at 21 weeks of gestation showed pulmonary artery stenosis, single umbilical artery and left foot postaxial polydactyly. Repeat amniocentesis was performed at 22 weeks of gestation and array comparative genomic hybridization (aCGH) analysis on the DNAs extracted from amniocytes revealed the result of arr 2p15 (61, 495, 220-62,885,679) × 3.0 [GRCh37 (hg19)] with a 1.391-Mb 2p15 duplication encompassing seven Online Mendelian Inheritance in Man (OMIM) genes of USP34, XPO1, FAM161A, CCT4, COMMD1, B3GNT2 and TMEM17. aCGH analysis on the DNAs extracted from parental bloods confirmed a familial transmission from a normal carrier mother who had no phenotypic abnormality. A 3270-g female baby was delivered at term with mild pulmonary artery stenosis and left foot postaxial polydactyly. The infant had normal physical and psychomotor development when follow-up at age of one year.
CONCLUSION
Prenatal diagnosis of fetal structural abnormalities should include aCGH analysis in addition to conventional cytogenetic analysis.
目的
我们报告了一例产前诊断为家族性 2p15 微重复，该病例伴有胎儿超声肺动脉狭窄、单脐动脉和左足后轴多指畸形。
病例报告
一名 34 岁女性因高龄接受了 17 周的羊膜穿刺术。羊膜穿刺术显示核型为 46,XX。21 周的胎儿超声检查显示肺动脉狭窄、单脐动脉和左足后轴多指畸形。22 周时再次进行羊膜穿刺术，对从羊水细胞中提取的 DNA 进行 array 比较基因组杂交（aCGH）分析，结果显示 arr 2p15（61,495,220-62,885,679）×3.0 [GRCh37（hg19）]，存在 1.391Mb 的 2p15 重复，包含 7 个在线孟德尔遗传数据库（OMIM）基因 USP34、XPO1、FAM161A、CCT4、COMMD1、B3GNT2 和 TMEM17。对从父母血液中提取的 DNA 进行的 aCGH 分析证实了该重复是从一个无表型异常的正常携带者母亲遗传而来的。一名 3270g 的女婴足月分娩，伴有轻度肺动脉狭窄和左足后轴多指畸形。随访 1 岁时，婴儿的身体和精神运动发育正常。
结论
除了常规细胞遗传学分析外，胎儿结构异常的产前诊断还应包括 aCGH 分析。
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