Incidence of non-age-dependent chromosomal abnormalities: a population-based study on 88965 amniocenteses

Current knowledge about the incidence of chromosomal abnormalities in the general population comes from studies in newborns carried out in the 70s, before the era of widespread prenatal diagnosis. In the following years, data on frequency of chromosomal abnormalities in the second trimester of pregn...

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Vydané v:European journal of human genetics : EJHG Ročník 17; číslo 7; s. 897 - 903
Hlavní autori: Forabosco, Antonino, Percesepe, Antonio, Santucci, Sandra
Médium: Journal Article
Jazyk:English
Vydavateľské údaje: Cham Springer International Publishing 01.07.2009
Nature Publishing Group
Predmet:
Adult
Age
Age Factors
Amniocentesis
Bioinformatics
Biological and medical sciences
Biomedical and Life Sciences
Biomedicine
Chromosome Aberrations - statistics & numerical data
Chromosome Disorders - diagnosis
Chromosome Disorders - epidemiology
Chromosome Disorders - genetics
Chromosomes
Chromosomes, Human, Pair 21 - genetics
Chromosomes, Human, X - genetics
Cohort Studies
Cytogenetics
Estimates
Female
Fetus
Fetuses
Fundamental and applied biological sciences. Psychology
Gene Expression
General aspects. Genetic counseling
Genetic counseling
Genetics
Genetics of eukaryotes. Biological and molecular evolution
Health care policy
Health risk assessment
Human Genetics
Humans
Incidence
Infants
Laboratories
Male
Medical genetics
Medical sciences
Middle Aged
Molecular and cellular biology
Natural history
Neonates
Newborn babies
Population
Population studies
Pregnancy
Prenatal diagnosis
Studies
Trisomy
Womens health
Italy
chromosomal abnormalities incidence
non-age dependent chromosomal abnormalities
cytogenetic population-based survey
cytogenetic epidemiology
Chromosomal aberration
Amniocentesis
Prenatal diagnosis
Genetics
Population
Age
Incidence
ISSN:1018-4813, 1476-5438, 1476-5438
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Shrnutí:Current knowledge about the incidence of chromosomal abnormalities in the general population comes from studies in newborns carried out in the 70s, before the era of widespread prenatal diagnosis. In the following years, data on frequency of chromosomal abnormalities in the second trimester of pregnancy have been used in conjunction with the data on the natural history of chromosomally abnormal fetuses to infer maternal age-specific rates of cytogenetic abnormalities in live-born infants. Starting from the data gathered in 1995–1996 from all Italian cytogenetic laboratories (with 92% compliance to the study), we have compared the frequency of chromosomal abnormalities at amniocentesis in cases with maternal age of ≥35 years (51 758 individuals) and cases with maternal age of <35 years (37 207 cases). The comparison confirmed the age-dependency of aneuploidies, whereas none of the structural abnormalities showed age-related differences. Furthermore, among the mosaic aneuploidies, trisomy 21 and 45,X/46,XX were found with a significantly higher incidence in older women. Chromosomal abnormalities that showed no significant difference between the two groups were summed for the overall national cohort, providing a general estimate of the incidence in the second trimester of pregnancy. The data provide critical background information for prenatal genetic counseling and for the planning of health care policy.
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ISSN:1018-4813
1476-5438
1476-5438
DOI:10.1038/ejhg.2008.265