Related Experiment Video

Updated: Jan 9, 2026

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

20.3K

Childhood outcomes of fetal genomic copy-number variants: The prenatal microarray cohort study

Jacqui McCoy1, Cecilia Pynaker1, Sharon Lewis1,2

  • 1Reproductive Epidemiology group, Murdoch Children's Research Institute, Parkville, VIC, Australia.

Genetics in Medicine Open
|December 9, 2025
PubMed

Insights

Children with a copy-number variant of uncertain significance (VUS) diagnosed prenatally show comparable developmental and social-emotional outcomes to peers. This study offers crucial insights for prenatal genetic counseling and reporting practices.

Area of Science:

  • Genetics
  • Developmental Pediatrics
  • Reproductive Medicine

Background:

  • Prenatal diagnosis of copy-number variants of uncertain significance (VUS) presents challenges for long-term outcome prediction.
  • Understanding the developmental trajectory of children with prenatal VUS is crucial for clinical management and parental guidance.

Purpose of the Study:

  • To compare the long-term developmental, social-emotional, and health outcomes of children with and without a prenatal VUS diagnosis.
  • To assess maternal perceptions of child health and development in families with a prenatal VUS.
  • To determine the VUS reclassification rate over time.

Main Methods:

  • Retrospective cohort study of mother-child pairs undergoing prenatal chromosomal microarray testing in Victoria, Australia.
  • Comparison of cognitive, developmental, and health outcomes between children with VUS (cases) and controls without VUS.
  • Statistical analysis adjusted for maternal sociodemographic factors.

Main Results:

  • No significant differences were observed in intellectual functioning, adaptive behavior, or social-emotional measures between children with and without prenatal VUS.
  • Maternal perceptions of child and family well-being were similar across both groups.
  • Post-study reanalysis reclassified 66.0% of VUS as benign and 8.5% as pathogenic.

Conclusions:

  • Children with a prenatal VUS diagnosis exhibit developmental outcomes and family well-being comparable to their peers without VUS.
  • These findings provide evidence to support current prenatal genetic counseling and clinical laboratory reporting practices regarding VUS.
  • The study highlights the importance of VUS reclassification in refining genetic diagnoses and informing clinical decisions.
Abstract

Keywords:
Chromosomal microarray analysisCognitive functionCopy-number variantsPrenatal diagnosisVariant of uncertain significance

More Related Videos

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform09:30

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

Published on: August 17, 2022

3.5K
Author Spotlight: Collecting the Brain and Serum from the Same Mice Fetus to Study Brain Tumor Development05:44

Author Spotlight: Collecting the Brain and Serum from the Same Mice Fetus to Study Brain Tumor Development

Published on: May 17, 2024

975

Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
18.5K
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
36.7K
Genome Copying Errors02:46

Genome Copying Errors

DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
5.0K
DNA Microarrays02:34

DNA Microarrays

Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...
20.6K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
15.2K