{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["16"],"submitter":["Ren J"],"pubmed_abstract":["<h4>Background</h4>Chromosomal karyotype analysis remains a classical and frontline method in prenatal diagnosis, capable of detecting balanced chromosomal abnormalities and providing insights distinct from high-resolution molecular techniques such as CMA and CNV-Seq. However, large-scale studies on the distribution of structural abnormalities and mosaicism in amniotic fluid karyotypes are scarce, with most previous research focusing on common aneuploidies.<h4>Objective</h4>The study aimed to elucidate the relationship between chromosomal structural abnormalities and specific chromosomes.<h4>Methods</h4>We established a large-scale amniotic fluid karyotype database by collecting prenatal diagnostic indications and karyotype analysis results from amniotic fluid samples of 38,652 pregnant wo"],"journal":["Frontiers in genetics"],"pagination":["1655290"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12394152"],"repository":["biostudies-literature"],"pubmed_title":["A retrospective analysis of 38,652 amniotic fluid karyotype."],"pmcid":["PMC12394152"],"pubmed_authors":["Guan X","Lv W","Ren J","Yin C","Si Y","Yan Y","Yang S"],"additional_accession":[]},"is_claimable":false,"name":"A retrospective analysis of 38,652 amniotic fluid karyotype.","description":"<h4>Background</h4>Chromosomal karyotype analysis remains a classical and frontline method in prenatal diagnosis, capable of detecting balanced chromosomal abnormalities and providing insights distinct from high-resolution molecular techniques such as CMA and CNV-Seq. However, large-scale studies on the distribution of structural abnormalities and mosaicism in amniotic fluid karyotypes are scarce, with most previous research focusing on common aneuploidies.<h4>Objective</h4>The study aimed to elucidate the relationship between chromosomal structural abnormalities and specific chromosomes.<h4>Methods</h4>We established a large-scale amniotic fluid karyotype database by collecting prenatal diagnostic indications and karyotype analysis results from amniotic fluid samples of 38,652 pregnant wo","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025","modification":"2026-04-08T16:03:11.816Z","creation":"2026-04-08T06:01:43.587Z"},"accession":"S-EPMC12394152","cross_references":{"pubmed":["40893934"],"doi":["10.3389/fgene.2025.1655290"]}}