ArticleEuropean journal of human genetics : EJHG2009
Incidence of non-age-dependent chromosomal abnormalities: a population-based study on 88965 amniocenteses.
Article in European journal of human genetics : EJHG, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 3 of them syntheses that pooled it.
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Who cites it
35 citing papers in PubMed, 3 syntheses or guidelines pooled it, 175 citations in OpenAlex.
- A systematic review and meta-analysis of cell-free DNA testing for detection of fetal sex chromosome aneuploidy.Prenatal diagnosis · 2023Pooled it
- The spectrum of chromosomal translocations in the Arab world: ethnic-specific chromosomal translocations and their relevance to diseases.Chromosoma · 2022Pooled it
- Clinical diagnostic testing for the cytogenetic and molecular causes of male infertility: the Mayo Clinic experience.Journal of assisted reproduction and genetics · 2011Pooled it
- Prenatal diagnosis and follow-up of a child with mosaic tetrasomy 9p without obvious abnormal clinical manifestations.Molecular cytogenetics · 2026Article
- Karyotypic analysis of 62,587 Han Chinese infertile couples undergoing assisted reproductive technology treatments: insights into chromosomal variations.BMC genomics · 2025Observational
- The clinical application and challenges of preimplantation genetic testing.Frontiers in genetics · 2025Review
- Chromosome Translocation t(6; 14) With Different Phenotypes and Segregation Patterns: A Report of Two Cases.Cureus · 2024Article
- Clinical outcomes of screen-positive genome-wide cfDNA cases for trisomy 20: results from the global expanded NIPT Consortium.Molecular cytogenetics · 2024Article
- Clinical evaluation of noninvasive prenatal testing for sex chromosome aneuploidies in 9,176 Korean pregnant women: a single-center retrospective study.BMC pregnancy and childbirth · 2024Article
- Detection and characterization of copy-number variants from exome sequencing in the DDD study.Genetics in medicine open · 2024Article
- Sperm and Oocyte Chromosomal Abnormalities.Biomolecules · 2023Review
- Large-scale detection and characterization of interchromosomal rearrangements in normozoospermic bulls using massive genotype and phenotype data sets.Genome research · 2023Article
- Review
- Effect of advanced parental age on pregnancy outcome and offspring health.Journal of assisted reproduction and genetics · 2022Review
- Discovery of genomic variation across a generation.Human molecular genetics · 2021Article
- The correlation between maternal age and fetal sex chromosome aneuploidies: a 8-year single institution experience in China.Molecular cytogenetics · 2021Article
- Management of Pregnancy in Women of Advanced Maternal Age: Improving Outcomes for Mother and Baby.International journal of women's health · 2021Review
- Genetic Counseling and Assisted Reproductive Technologies.Cold Spring Harbor perspectives in medicine · 2020Review
- The relationship between chimeric RNAs and gene fusions: Potential implications of reciprocity in cancer.Journal of genetics and genomics = Yi chuan xue bao · 2020Article
- Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 >or=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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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.