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Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities
Katarzyna Kowalczyk1, Magdalena Bartnik-Głaska1, Marta Smyk1
1Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland.
Genes
|December 24, 2021
Summary
Array comparative genomic hybridization (CGH) aids in diagnosing fetal congenital heart defects (CHDs). This genetic testing identified the cause of heart defects in 37% of fetuses studied, improving diagnostic accuracy.
Area of Science:
- Medical Genetics
- Fetal Medicine
- Cardiology
Background:
- Congenital heart defects (CHDs) are common, affecting 8-10 per 1000 newborns and are more frequent in fetuses.
- CHDs are a leading cause of infant mortality.
- Prenatal diagnosis of fetal abnormalities, particularly cardiac defects, is crucial.
Purpose of the Study:
- To evaluate the utility of array comparative genomic hybridization (array CGH) in diagnosing prenatal congenital heart defects.
- To determine the diagnostic yield of array CGH in fetuses with sonographically detected cardiac abnormalities.
Main Methods:
- Array comparative genomic hybridization (array CGH) was performed on 484 fetuses with prenatally diagnosed CHDs.
- Cases included isolated CHDs and CHDs with other malformations.
- Results were compared to traditional karyotyping methods.
Main Results:
- Pathogenic genetic aberrations were identified in 165 fetuses (37% diagnostic yield).
- Nine copy number variants (CNVs) of unknown clinical significance were also detected.
- Array CGH demonstrated higher resolution than traditional karyotyping for detecting unbalanced aberrations.
Conclusions:
- Prenatal array CGH is an effective first-line diagnostic tool for fetal CHDs.
- Array CGH significantly increases the identification rate of genetic causes for congenital heart defects.
- This method aids in understanding the etiology of heart defects, improving prenatal diagnosis and counseling.
