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.
Highlights
Our study highlights the importance of genetic testing in congenital heart disease (CHD)
Congenital anomalies are the important factor for infant death and congenital heart disease (CHD) that account for 30 to 50% of these deaths.[1]
A total 23 (2, 4%) out of 950 pregnancies were diagnosed as a fetal CHD by systemic ultrasound and fetal echocardiography (►Table 2)
Summary
Congenital anomalies are the important factor for infant death and congenital heart disease (CHD) that account for 30 to 50% of these deaths.[1] prenatal diagnosis and management of fetal cardiac abnormalities are important because they provide information before birth and gives chance to decision of treatment options before and after delivery and plan for specific health essentials at birth. There is a few information which shows interaction between prenatal diagnosis and morbidity or mortality of affected fetuses.[2] Screening of fetal cardiac anomalies has been applied between 18 and 22 weeks of gestation.[3]. On the other side, prenatal detection of small ventricular or atrial septal defects, minor valve lesions, partial anomalous pulmonary venous connection, and coronary artery anomalies is not possible. Sensitivity and specificity of first trimester ultrasound examination for detection of major CHD were 85 (95% confidence interval [CI]: 78–90) and 99% (95% CI: 98–100), respectively.[4]
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