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Nondisjunction

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers. Nondisjunction is common during anaphase I or anaphase II of meiosis. Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...

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Updated: May 10, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

First-trimester euploid miscarriages analysed by array-CGH.

Chiara Donatella Viaggi¹, S Cavani, M Malacarne

¹S.C. Laboratorio di Genetica Umana, E.O. Ospedali Galliera, Genova, Italy. chiara.viaggi@galliera.it

Journal of Applied Genetics

|June 20, 2013

Summary

This summary is machine-generated.

Array comparative genomic hybridization (array-CGH) detects submicroscopic chromosomal changes in euploid miscarriages. This advanced technique identifies copy number variants (CNVs) that may cause early pregnancy loss, offering new insights into miscarriage etiology.

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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

Area of Science:

Genetics
Reproductive Biology
Genomic Medicine

Background:

Miscarriage affects 10-15% of pregnancies, often in the first trimester.
Chromosomal abnormalities are found in 50% of first-trimester miscarriages.
Standard cytogenetics has limitations in detecting all chromosomal abnormalities.

Purpose of the Study:

To investigate submicroscopic chromosomal changes in euploid miscarriages.
To determine if these changes are causative factors for spontaneous abortion.
To evaluate array comparative genomic hybridization (array-CGH) for detecting these changes.

Main Methods:

Analyzed 40 fetal tissue samples from first-trimester miscarriages with normal karyotypes.
Utilized whole-genome microarray with 100-Kb resolution array-CGH.
Identified copy number variants (CNVs) in fetal samples.

Main Results:

Detected 45 copy number variants (CNVs) in 31 samples (32% had multiple CNVs).
CNVs ranged from 120 Kb to 4.3 Mb, including gains and losses.
Identified six genes and five microRNAs within the detected CNVs.

Conclusions:

Array-CGH effectively detects submicroscopic CNVs in euploid miscarriages.
Identified CNVs and associated genes/microRNAs may explain recurrent pregnancy loss.
Array-CGH offers higher resolution and detection rates than conventional cytogenetics.