biostudies-literatureUnknown16Ren J<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 woFrontiers in genetics1655290https://www.ebi.ac.uk/biostudies/studies/S-EPMC12394152biostudies-literatureA retrospective analysis of 38,652 amniotic fluid karyotype.PMC12394152Guan XLv WRen JYin CSi YYan YYang SfalseA retrospective analysis of 38,652 amniotic fluid karyotype.<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 wo2025-01-01T00:00:00Z20252026-04-08T16:03:11.816Z2026-04-08T06:01:43.587ZS-EPMC123941524089393410.3389/fgene.2025.1655290