Evaluation of chromosomal abnormalities in the postnatal cohort: A single-center study on 14,242 patients.

ABSTRACT:

Background and aim

Chromosomal analysis is a laboratory technique used to examine the chromosomes of an individual, offering insights into chromosome numbers, structures, and arrangements to diagnose and comprehend genetic diseases. This retrospective study provides a comprehensive understanding of the distribution by indications in a large cohort of 14,242 patients and the frequency of chromosomal abnormalities in different clinical populations.

Method

The study examined various indications for karyotype evaluation, with recurrent pregnancy loss being the most common indication, followed by intellectual disability, dysmorphic features, congenital anomalies, and developmental delay.

Results

The overall chromosomal abnormality rate was found to be 5.4%, with numerical

SUBMITTER: Akalin H 

PROVIDER: S-EPMC10829689 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature