检测到胎儿先天性心脏缺陷中存在新发的 18 号染色体长臂 22.2 区缺失（del18q22.2）和 15 号染色体长臂 13.2-13.3 微重复（dup15q13.2-q13.3）。
Detection of de novo del(18)(q22.2) and a familial of 15q13.2-q13.3 microduplication in a fetus with congenital heart defects.
机构信息
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, 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 Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medicine, MacKay Medical College, New Taipei City, Taiwan; MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan.
出版信息
Taiwan J Obstet Gynecol. 2019 Sep;58(5):704-708. doi: 10.1016/j.tjog.2019.07.022.
OBJECTIVE
We present detection of de novo del(18)(q22.2) and a familial 15q13.2-q13.3 microduplication in a fetus with congenital heart defects (CHD).
CASE REPORT
A 27-year-old, primigravid woman was referred for genetic counseling because of fetal CHD. Prenatal ultrasound at 17 weeks of gestation revealed pericardial effusion, cardiomegaly and a large ventricular septal defect. The pregnancy was subsequently terminated at 18 weeks of gestation, and a 192-g female fetus was delivered with facial dysmorphism. Cytogenetic analysis of the umbilical cord revealed a karyotype of 46,XX,del(18)(q22.2). The parental karyotypes were normal. Array comparative genomic hybridization (aCGH) of the placental tissue revealed a 2.08-Mb 15q13.2-q13.3 microduplication encompassing KLF13 and CHRNA7, and a 10.74-Mb 18q22.2-q23 deletion encompassing NFATC1. The phenotypically normal father carried the same 2.08-Mb 15q13.2-q13.3 microduplication. Polymorphic DNA marker analysis confirmed a paternal origin of the distal 18q deletion.
CONCLUSION
Prenatal diagnosis of CHD should include a complete genetic study of the embryonic tissues, and the acquired information is useful for genetic counseling.
目的
我们报告了一例胎儿先天性心脏病（CHD）中存在新发的 18 号染色体长臂 22.2 区缺失（del（18）（q22.2））和家族性的 15 号染色体长臂 13.2-13.3 微重复。
病例报告
一名 27 岁的初产妇因胎儿 CHD 被转介至遗传咨询门诊。孕 17 周时的产前超声检查显示有心包积液、心脏增大和巨大的室间隔缺损。随后，患者在孕 18 周时终止妊娠，娩出一名 192g 的女性胎儿，其存在面部畸形。脐带的细胞遗传学分析显示核型为 46，XX，del（18）（q22.2）。父母的核型均正常。胎盘组织的比较基因组杂交（aCGH）显示，存在一个 2.08-Mb 的 15q13.2-q13.3 微重复，包含 KLF13 和 CHRNA7，以及一个 10.74-Mb 的 18q22.2-q23 缺失，包含 NFATC1。表型正常的父亲携带相同的 2.08-Mb 15q13.2-q13.3 微重复。多态性 DNA 标记分析证实了远端 18q 缺失来源于父源。
结论
CHD 的产前诊断应包括对胚胎组织进行全面的遗传学研究，所获得的信息对遗传咨询有用。
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