胎儿小头畸形的遗传咨询。

IF 0.9 Q4 RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING Journal of Medical Ultrasound Pub Date : 2024-03-21 eCollection Date: 2024-01-01 DOI:10.4103/jmu.jmu_18_23
Shu-Chin Chien, Chih-Ping Chen
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引用次数: 0

摘要

胎儿小头畸形是指胎儿头小,大脑皮质体积有不同程度的损失。受影响的病例可能会出现从轻微到严重的不同程度的大脑发育障碍。根据不同的病因,包括基因突变、染色体异常、先天性感染性疾病、母体饮酒和孕期代谢紊乱等,这种病可能是一种独立的病症,也可能与其他异常一起出现。它通常是一种终生无法治愈的疾病。因此,及早发现胎儿小头畸形并找出潜在的病因,对于临床医护人员为父母提供适当的遗传咨询和准确的治疗非常重要。
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Genetic Counseling of Fetal Microcephaly.

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.

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来源期刊
Journal of Medical Ultrasound
Journal of Medical Ultrasound RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING-
CiteScore
1.30
自引率
9.10%
发文量
90
审稿时长
10 weeks
期刊介绍: The Journal of Medical Ultrasound is the peer-reviewed publication of the Asian Federation of Societies for Ultrasound in Medicine and Biology, and the Chinese Taipei Society of Ultrasound in Medicine. Its aim is to promote clinical and scientific research in ultrasonography, and to serve as a channel of communication among sonologists, sonographers, and medical ultrasound physicians in the Asia-Pacific region and wider international community. The Journal invites original contributions relating to the clinical and laboratory investigations and applications of ultrasonography.
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