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ISSN 2070-8718 (Print)

2013, Number 3

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Rev Cub Gen 2013; 7 (3)

Value of prenatal ultrasonography in the diagnosis of Edwards syndrome on purpose of a case

Hierrezuelo IEJ, Gómez PHP, Hernández VV, Álvarez VH, Frómeta RA

Language: Spanish
References: 11
Page: 43-47
PDF size: 1599.80 Kb.


ABSTRACT

Edwards syndrome constitutes, after Down syndrome, one of the most frequent chromosomal disorders determining high morbidity and mortality in childhood. Late maternal age is the most frequent indication to suggest an amniocentesis prenatal cytogenetic diagnosis for the detection of these chromosomal disorders, though ultrasonograhy constitutes one of the non-invasive diagnostic means to investigate them. A prenatal diagnosis case with echography signs suggesting a chromosomal disorder is presented. A correspondence between age risk, echography diagnosis, prenatal cytogenetic diagnosis and the anatomicopathologic one are carried out. The importance of prenatal ultrasound diagnosis of chromosomal aberrations like Edwards syndrome is evidenced.


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