胎儿多发严重先天畸形的 9p 末端染色体缺失的产前诊断。

Prenatal diagnosis of a de novo 9p terminal chromosomal deletion in a fetus with major congenital anomalies.

机构信息

Department of Obstetrics and Gynecology, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan.

Department of Obstetrics and Gynecology, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan; 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.

出版信息

Taiwan J Obstet Gynecol. 2014 Dec;53(4):602-5. doi: 10.1016/j.tjog.2014.09.005.

DOI:10.1016/j.tjog.2014.09.005

PMID:25510709

Abstract

OBJECTIVE

We describe a prenatal ultrasonography diagnosis of omphalocele and symbrachydactyly in a fetus and review the literature on prenatal diagnosis of 9p terminal chromosomal deletions.

CASE REPORT

A 31-year-old woman (gravida 3, para 1) was referred for genetic counseling because a fetal omphalocele had been detected. Prenatal ultrasonography at 17+ weeks of gestational age revealed a singleton female fetus with biometry equivalent to 18 weeks with an omphalocele. In addition, symbrachydactyly was also noted in the right arm; the wrist bones as well as the metacarpals were missing. A chromosomal study was arranged for a congenital anomaly involving omphalocele. We obtained Giemsa-banded chromosomes from fetal tissue cells, and an abnormal male karyotype with a terminal deletion of the short arm of chromosome 9 at band 9p13 was noted. After delivery, the fetus showed omphalocele, symbrachydactyly, trigonocephaly, sex reversal, a long philtrum, low-set ears, telecanthus, and a frontal prominence.

CONCLUSION

Prenatal diagnosis of abnormal ultrasound findings with omphalocele and symbrachydactyly should include the differential diagnosis of a chromosome 9p deletion.

摘要

目的

我们描述了一例产前超声诊断脐膨出和并指畸形的病例，并回顾了关于 9p 末端染色体缺失产前诊断的文献。

病例报告

一名 31 岁女性（孕 3 产 1）因胎儿脐膨出而被转诊进行遗传咨询。17 周+妊娠时的产前超声检查显示，一名女性单胎胎儿的超声测量值相当于 18 周，存在脐膨出。此外，还发现右臂存在并指畸形；腕骨和掌骨缺失。为涉及脐膨出的先天性异常安排了染色体研究。我们从胎儿组织细胞中获得了吉姆萨带染色体，发现存在异常的男性核型，9 号染色体短臂末端 9p13 缺失。分娩后，胎儿出现脐膨出、并指畸形、三角头、性别反转、长人中、低位耳、内眦赘皮和额突出。