ORIGINAL RESEARCH article
Front. Genet.
Sec. Human and Medical Genomics
Volume 16 - 2025 | doi: 10.3389/fgene.2025.1655290
A Retrospective Analysis of 38,652 Amniotic Fluid Karyotype
Provisionally accepted
- 1Capital Medical University Beijing Obstetrics and Gynecology Hospital, Beijing, China
- 2Capital Medical University, Beijing, China
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A large-scale amniotic fluid karyotype database was established by collecting prenatal diagnostic indications and karyotype analysis results of amniotic fluid samples from 38,652 pregnant women who underwent prenatal diagnosis at Beijing Obstetrics and Gynecology Hospital. The study aimed to elucidate the relationship between chromosomal structural abnormalities and specific chromosomes. From 2010 to 2024, the proportion of high-risk serological screening cases showed a decreasing trend year by year, while the proportions of high-risk non-invasive prenatal testing, increased nuchal translucency, and ultrasound abnormalities all showed increasing trends. Among all results, the proportions of nonmosaic abnormalities, mosaicism, polymorphisms, and normal karyotypes were 4.68%, 0.71%, 1.7%, and 92.91%, respectively. Inversion of chromosome 9 and variations in heterochromatin length of the Y chromosome were the most common polymorphisms. Sex chromosome aneuploidies were more prone to mosaicism. Inversions of chromosomes 9 and Y were the most frequent types of inversions. Robertsonian translocations occurred most commonly between chromosomes 13 and 14, while reciprocal translocations were most frequently observed between chromosomes 11 and 22. Chromosome breakage was most common in chromosomes Y and 1, whereas deletions were most frequently detected in chromosomes X and 5. Isochromosomes mainly appeared in a mosaic form in chromosome X. Among all indication groups, high-risk NIPT was associated with the highest positive rate for unbalanced abnormalities. In conclusion, specific chromosomal abnormalities and mosaicisms tend to occur in particular chromosomes. Therefore, attention should be paid to specific chromosomes during karyotype analysis. Abnormal karyotypes identified in this study can be queried at:https://yangsf.shinyapps.io/karyotype_search/.
Keywords: Prenatal Diagnosis, Amniocentesis, Karyotype analysis, chromosomal aberrations, database
Received: 27 Jun 2025; Accepted: 28 Jul 2025.
Copyright: © 2025 Ren, Guan, Lv, Yousheng, Si, Yang and Yin. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Yanmei Si, Capital Medical University Beijing Obstetrics and Gynecology Hospital, Beijing, China
Shufa Yang, Capital Medical University, Beijing, China
Chenghong Yin, Capital Medical University Beijing Obstetrics and Gynecology Hospital, Beijing, China
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