A retrospective analysis of 38,652 amniotic fluid karyotype.

ABSTRACT:

Background

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.

Objective

The study aimed to elucidate the relationship between chromosomal structural abnormalities and specific chromosomes.

Methods

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

SUBMITTER: Ren J 

PROVIDER: S-EPMC12394152 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature