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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
3
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pubmed:dateCreated |
1998-10-8
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pubmed:abstractText |
In order to assess the effectiveness and reliability of cytogenetic diagnosis provided by fetal blood, we report the first 186 cases of fetal blood sampling performed for rapid karyotype between 19-37 weeks of pregnancy in our Prenatal Diagnosis Unit. The overall diagnostic success rate was 98%, achieving 100% in the last period of the study. Chromosomal anomalies were detected in 16% (29/182) of the fetuses. In malformed fetuses this rate increased from 8-9% in isolated malformation or markers of aneuploidy to 50% in multiple malformations. In pregnancies in which a previous cytogenetic study in amniotic fluid was inconclusive, fetal blood made it possible to obtain a definitive result, with no discrepancies found at phenotypic follow-up examination. Interestingly enough, one of the four previously defined as pseudomosaicisms was found to be a non-mosaic in fetal blood, and only 1 of 4 mosaicisms was confirmed in fetal blood. In conclusion, cytogenetic analysis of fetal blood samples appears to be effective, rapid and reliable to establish the fetal karyotype in selected cases.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:issn |
1015-3837
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
13
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
169-75
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:9708441-Chromosome Aberrations,
pubmed-meshheading:9708441-Chromosome Disorders,
pubmed-meshheading:9708441-Cytogenetics,
pubmed-meshheading:9708441-Female,
pubmed-meshheading:9708441-Fetal Blood,
pubmed-meshheading:9708441-Humans,
pubmed-meshheading:9708441-Karyotyping,
pubmed-meshheading:9708441-Pregnancy
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pubmed:articleTitle |
Cytogenetic studies in fetal blood.
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pubmed:affiliation |
Prenatal Diagnosis Unit, Genetic Service, Hospital Clinic, University of Barcelona, Spain. dcosta@medicina.ub.es
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pubmed:publicationType |
Journal Article
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