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新生儿脑积水的遗传学与遗传咨询

Genetics and genetic counselling in neonatal hydrocephalus.

作者信息

Habib Z

出版信息

Obstet Gynecol Surv. 1981 Oct;36(10):529-34. doi: 10.1097/00006254-198110010-00001.

DOI:10.1097/00006254-198110010-00001
PMID:7029366
Abstract

In the majority of cases, neonatal hydrocephalus is a genetic disease. The obstetrician's role in antenatal diagnosis of this disease is important. It is essential to take an accurate family history and to perform autopsies on affected infants if successful genetic counselling is to be pursued. Every woman, at her first antenatal visit, should be asked if she had a positive family history of hydrocephalus. Advanced experience in sonography will make the detection of hydrocephalus possible before the 20th week of gestation.

摘要

在大多数情况下,新生儿脑积水是一种遗传性疾病。产科医生在该疾病的产前诊断中起着重要作用。如果要进行成功的遗传咨询,准确记录家族病史并对受影响的婴儿进行尸检至关重要。每位女性在首次产前检查时,都应被询问是否有脑积水的阳性家族病史。超声检查的先进经验将使在妊娠20周前检测到脑积水成为可能。

相似文献

1
Genetics and genetic counselling in neonatal hydrocephalus.新生儿脑积水的遗传学与遗传咨询
Obstet Gynecol Surv. 1981 Oct;36(10):529-34. doi: 10.1097/00006254-198110010-00001.
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Genetic aspects of "uncomplicated" hydrocephalus and its relationship to neural tube defect.“单纯性”脑积水的遗传学方面及其与神经管缺陷的关系。
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Etiologic complexities of diaphragmatic defects: right diaphragmatic hernia, pulmonary hypoplasia/agenesis, and hydrocephalus in sibs.膈肌缺损的病因复杂性:同胞中的右膈疝、肺发育不全/肺不发育和脑积水。
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[X chromosome recessively transmitted hydrocephalus with congenital aqueduct stenosis].[X染色体隐性遗传型脑积水伴先天性导水管狭窄]
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X-linked recessive aqueductal stenosis without macrocephaly.
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Prenatal diagnosis of X linked hydrocephalus without aqueductal stenosis.无导水管狭窄的X连锁脑积水的产前诊断
J Med Genet. 1987 Apr;24(4):207-9. doi: 10.1136/jmg.24.4.207.
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Prenatal molecular diagnosis of X-linked hydrocephalus via a silent C924T mutation in the L1CAM gene.通过L1CAM基因中沉默的C924T突变对X连锁脑积水进行产前分子诊断。
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Empiric recurrence risks for congenital hydrocephalus.先天性脑积水的经验性复发风险。
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Autosomal recessive hydrocephalus due to congenital stenosis of the aqueduct of sylvius.由于中脑导水管先天性狭窄导致的常染色体隐性脑积水。
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Congenital hydrocephalus: a review and protocol for perinatal management.先天性脑积水:围产期管理综述与方案
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引用本文的文献

1
In utero surgery for hydrocephalus.胎儿脑积水的宫内手术。
Childs Nerv Syst. 2003 Aug;19(7-8):574-86. doi: 10.1007/s00381-003-0775-4. Epub 2003 Jul 25.
2
Current concept of hydrocephalus: evolution of new classifications.脑积水的当前概念:新分类的演变
Childs Nerv Syst. 1995 Sep;11(9):523-31; discussion p 531-2. doi: 10.1007/BF00822842.
3
Prenatal diagnosis and management of fetal hydrocephaly and lissencephaly.胎儿脑积水和无脑回畸形的产前诊断与处理
Childs Nerv Syst. 1993 Nov;9(7):408-12. doi: 10.1007/BF00306194.
4
Examination of products of conception terminated after prenatal investigation.对产前检查后终止妊娠的妊娠产物进行检查。
J Clin Pathol. 1986 Oct;39(10):1049-65. doi: 10.1136/jcp.39.10.1049.