Suppr超能文献

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.

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。

相似文献

1
Genetic Counseling of Fetal Microcephaly.胎儿小头畸形的遗传咨询
J Med Ultrasound. 2024 Mar 21;32(1):1-7. doi: 10.4103/jmu.jmu_18_23. eCollection 2024 Jan-Mar.
4
Evaluation of prenatally diagnosed structural congenital anomalies.产前诊断的结构性先天性异常的评估
J Obstet Gynaecol Can. 2009 Sep;31(9):875-881. doi: 10.1016/S1701-2163(16)34307-9.
9
Alcohol consumption and cigarette smoking: effect on pregnancy.饮酒与吸烟:对妊娠的影响。
Clin Obstet Gynecol. 1983 Jun;26(2):437-48. doi: 10.1097/00003081-198306000-00025.

本文引用的文献

3
Dissecting the Genetic and Etiological Causes of Primary Microcephaly.剖析原发性小头畸形的遗传和病因学原因。
Front Neurol. 2020 Oct 15;11:570830. doi: 10.3389/fneur.2020.570830. eCollection 2020.
5
Neurologic infections during pregnancy.妊娠期神经系统感染。
Handb Clin Neurol. 2020;172:79-104. doi: 10.1016/B978-0-444-64240-0.00005-2.
6
A to Z of Zika Virus: A Comprehensive Review for Clinicians.寨卡病毒全知道:给临床医生的全面综述
Glob Pediatr Health. 2020 May 27;7:2333794X20919595. doi: 10.1177/2333794X20919595. eCollection 2020.
7
Cytomegalovirus infection during pregnancy: state of the science.巨细胞病毒感染的孕妇:科学现状。
Am J Obstet Gynecol. 2020 Sep;223(3):330-349. doi: 10.1016/j.ajog.2020.02.018. Epub 2020 Feb 24.
8
Zika virus detection in amniotic fluid and Zika-associated birth defects. Zika 病毒在羊水中的检测与 Zika 相关的出生缺陷。
Am J Obstet Gynecol. 2020 Jun;222(6):610.e1-610.e13. doi: 10.1016/j.ajog.2020.01.009. Epub 2020 Jan 15.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验