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Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Should prenatal chromosomal microarray analysis be offered for isolated fetal growth restriction? A French
Isabelle Monier1, Aline Receveur2, Véronique Houfflin-Debarge3
1Obstetrical, Perinatal and Pediatric Epidemiology Research Team, Epidemiology and Statistics Research Center, Université de Paris, Institut national de la santé et de la recherche médicale, Institut national de la recherche agronomique, Paris, France; Department of Obstetrics and Gynaecology, Antoine Béclère Hospital, AP-HP, Paris Saclay University, Clamart, France.
Chromosomal microarray analysis significantly improves the detection of genetic anomalies in fetuses with isolated fetal growth restriction compared to standard karyotyping. This enhanced diagnostic capability supports its use in prenatal care for these cases.
Area of Science:
- Genetics
- Prenatal Diagnosis
- Medical Diagnostics
Background:
- Standard karyotyping is a common prenatal diagnostic tool.
- Chromosomal microarray analysis (CMA) offers improved detection of genetic anomalies over karyotyping.
- Clinical utility of CMA in isolated fetal growth restriction (FGR) requires further evidence.
Purpose of the Study:
- To estimate the proportion of copy number variants (CNVs) detected by CMA in fetuses with isolated FGR.
- To determine the incremental yield of CMA compared to karyotype for detecting genetic abnormalities in isolated FGR.
Main Methods:
- Retrospective study of singleton fetuses diagnosed with isolated FGR and no structural anomalies.
- Invasive genetic testing including karyotype and CMA performed on 146 fetuses.
- CNVs classified according to American College of Medical Genetics and Genomics guidelines.
Main Results:
- CMA detected genetic anomalies in 7.5% of fetuses with isolated FGR.
- An incremental yield of 3.6% was observed for CMA over karyotype in detecting pathogenic/likely pathogenic CNVs.
- All detected pathogenic/likely pathogenic CNVs led to pregnancy termination.
Conclusions:
- CMA enhances the detection of genetic anomalies in fetuses with isolated FGR compared to karyotype.
- Results support the adjunctive use of CMA with karyotype for isolated FGR diagnosis.
- Improved genetic anomaly detection via CMA can inform clinical management decisions.
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