Related Experiment Video
Updated: Mar 12, 2026
09:16
Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
20.6K
Clinical utility of array comparative genomic hybridisation in prenatal setting
Luca Lovrecic1, Ziga Iztok Remec2, Marija Volk2
1Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Slajmerjeva 3, SI-1000, Ljubljana, Slovenia. lucalovrecic@gmail.com.
BMC Medical Genetics
|November 17, 2016
Summary
Prenatal microarray testing offers a higher diagnostic yield for fetal genetic abnormalities than conventional karyotyping, especially in cases with ultrasound anomalies. This advanced genetic testing provides crucial insights into submicroscopic genomic imbalances.
Area of Science:
- Genetics
- Prenatal Diagnostics
- Genomic Medicine
Background:
- Submicroscopic genomic imbalances pose diagnostic challenges in prenatal settings.
- Conventional karyotyping has limitations in detecting smaller genetic variations.
Purpose of the Study:
- To evaluate the clinical utility of prenatal microarray testing for detecting submicroscopic genomic imbalances.
- To stratify findings based on fetal ultrasound anomaly types.
Main Methods:
- Chromosomal microarray testing was performed on 218 fetuses with various indications for invasive prenatal diagnosis.
- Indications included abnormal karyotype, ultrasound anomalies, previous pathogenic variants, or parental carrier status.
Main Results:
- Prenatal microarray testing detected pathogenic copy number variants (CNVs) in 10.0% of fetuses with ultrasound anomalies.
- An additional 7.7% diagnostic yield was observed for pathogenic CNVs below classical karyotype resolution.
- The highest detection rate of pathogenic CNVs was in fetuses with multiple congenital anomalies (16.7%).
Conclusions:
- Prenatal chromosomal microarray testing significantly increases diagnostic yield compared to conventional karyotyping.
- The added value is highest in prenatal diagnostics for fetuses with abnormal ultrasound findings.
- Pretest counseling is crucial to discuss variants of unknown significance and risk factor CNVs.
