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胎儿小头畸形的遗传咨询

Genetic Counseling of Fetal Microcephaly.

作者信息

Chien Shu-Chin, Chen Chih-Ping

机构信息

Kan-Ru Clinic, New Taipei, Taiwan.

Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.

出版信息

J Med Ultrasound. 2024 Mar 21;32(1):1-7. doi: 10.4103/jmu.jmu_18_23. eCollection 2024 Jan-Mar.

DOI:10.4103/jmu.jmu_18_23
PMID:38665355
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11040482/
Abstract

Fetal microcephaly is a small head with various losses of cerebral cortical volume. The affected cases may suffer from a wide range in severity of impaired cerebral development from slight to severe mental retardation. It can be an isolated finding or with other anomalies depending on the heterogeneous causes including genetic mutations, chromosomal abnormalities, congenital infectious diseases, maternal alcohol consumption, and metabolic disorders during pregnancy. It is often a lifelong and incurable condition. Thus, early detection of fetal microcephaly and identification of the underlying causes are important for clinical staff to provide appropriate genetic counseling to the parents and accurate management.

摘要

胎儿小头畸形是指头部较小且伴有不同程度的大脑皮质体积缺失。受影响的病例可能会出现从轻度到重度智力发育迟缓等广泛的大脑发育受损严重程度。根据包括基因突变、染色体异常、先天性传染病、孕期母亲饮酒以及代谢紊乱等多种不同病因,它可以是孤立的发现,也可能伴有其他异常。这通常是一种终身无法治愈的病症。因此,早期检测胎儿小头畸形并确定潜在病因,对于临床工作人员为父母提供适当的遗传咨询和准确的管理至关重要。