AI Article Synopsis
- - The prenatal diagnosis of congenital heart disease (CHD) is crucial due to its associated mortality risks, and the likelihood of genetic issues varies based on the type of heart malformation.
- - A study analyzed 950 samples using various genetic testing methods to identify genetic alterations linked to CHD, with interventional prenatal genetic examination performed on 23 fetal cases.
- - Chromosomal abnormalities were found in 5 of these 23 cases, indicating the significance of genetic testing in understanding and managing congenital heart disease.
Article Abstract
The prenatal diagnosis of congenital heart disease (CHD) is important because of mortality risk. The onset of CHD varies, and depending on the malformation type, the risk of aneuploidy is changed. To identify possible genetic alterations in CHD, G-banding, chromosomal microarray or if needed DNA mutation analysis and direct sequence analysis should be planned. In present study, to identify genetic alterations, cell culture, karyotype analysis, and single nucleotide polymorphism, array analyses were conducted on a total 950 samples. Interventional prenatal genetic examination was performed on 23 (2, 4%, 23/950) fetal CHD cases. Chromosomal abnormalities were detected in 5 out of 23 cases (21, 7%). Detected chromosomal abnormalities were 10q23.2 deletion, trisomy 18, 8p22.3-p23.2 deletion, 8q21.3-q24.3 duplication, 11q24.2q24.5 (9 Mb) deletion, and 8p22p12 (16.8 Mb) deletion. Our study highlights the importance of genetic testing in CHD.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8837410 | PMC |
| http://dx.doi.org/10.1055/s-0041-1736566 | DOI Listing |
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