产前超声诊断半叶型前脑无裂畸形合并唇腭裂

Antenatal sonographic diagnosis of semilobar holoprosencephaly with associated cleft lip and palate.

作者信息

Naikwadi Avinash, Rege Rujuta, Hameed Shahul

机构信息

IQRAA International Hospitals and Research Center, Kozhikode, Kerala.

Head of the department, Radiology and Imaging sciences, IQRAA International Hospitals and Research Center, Kozhikode, Kerala.

出版信息

BJR Case Rep. 2018 Oct 11;5(1):20180013. doi: 10.1259/bjrcr.20180013. eCollection 2019 Feb.

DOI:10.1259/bjrcr.20180013

PMID:31131114

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6519486/

Abstract

Routine antenatal Level II ( anomaly scan) scanning done in a 36-year-old pregnant patient with no history of birth defects in the previous pregnancy showed a 19 weeks fetus with deformed cerebral ventricular cavities, fusion of thalami and craniofacial abnormalities. Diagnosis of semilobar holoprosencephaly with midline cleft lip-cleft palate was given and termination of the ongoing pregnancy was advised in view of the unfavourable outcome.

摘要

在一名36岁的孕妇中进行了常规产前二级（畸形扫描）检查，该孕妇既往妊娠无出生缺陷史，检查显示19周的胎儿存在脑室腔畸形、丘脑融合及颅面异常。诊断为半侧型前脑无裂畸形伴中线唇腭裂，鉴于预后不良，建议终止此次妊娠。