首页   按字顺浏览 期刊浏览 卷期浏览 Congenital Malformations and Chromosomal Aberrations
Congenital Malformations and Chromosomal Aberrations

 

作者: J. Battin,  

 

期刊: Fetal Diagnosis and Therapy  (Karger Available online 1986)
卷期: Volume 1, issue 2-3  

页码: 68-72

 

ISSN:1015-3837

 

年代: 1986

 

DOI:10.1159/000262236

 

出版商: S. Karger AG

 

关键词: Duodenal atresia;Prenatal diagnosis;Chromosomal anomalies;Neuropathological findings;Holoprosencephaly;Agenesis of corpus callosum

 

数据来源: Karger

 

摘要:

Among a great number of chromosomal aberrations, the absence of cerebral malformations does not explain the reason for mental retardation and will lead to interpreting as normal the echography of a fetus which, after birth, will be revealed to have a trisomy. Trisomic brain anomalies are not constant or obligatory, but some of them (holoprosencephaly for 61 % of trisomy-13 and agenesis of corpus callosum for 8% of trisomy-18) have a degree of specificity. As for cerebral and cerebellar heterotopias, they cannot be considered as real malformations as they are frequently found in premature newborns and disappear with maturation, thus proving that they are a sign of immaturity. There is still a lot of work to be done before we are able to meet the request for fetal integrity formulated by contemporary couples.

 

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