Prenatal echocardiographic diagnosis and genetic analysis of fetal atrioventricular septal defect / 中国医学影像技术

ABSTRACT

Objective: To observe the types and accompanied malformations of fetal atrioventricular septal defect (AVSD), and to analyze the characteristics of AVSD gene with second-generation sequencing. Methods: Data of 150 AVSD fetuses diagnosed with ultrasound were reviewed, including 47 fetuses underwent genetic testing. Echocardiographic images were analyzed, and the types and accompanied intracardiac and extracardiac malformations were evaluated. Then the whole genome and whole exon sequencing were performed together with peripheral blood of the parents and umbilical cord tissue from 47 samples. Results: There were 7 (7/47, 14.89%) partial type, 2 (2/47, 4.26%) transitional type and 38 (38/47, 80.85%) complete type AVSD, Among 47 fetuses, including 27 (27/47, 57.45%) associated intracardiac malformation, 19 (19/47, 40.43%) with associated extracardiac malformation and 14 (14/47, 29.79%) with both intracardiac and extracardiac malformation. Tissue degradation was found in 4 samples during genetic testing, while results were obtained in 43 samples including 22 (22/43, 51.16%) positive ones. The positive rate of genomic studies in AVSD fetuses with accompanied intracardiac malformation was 40.74% 11 (11/27), in AVSD with accompanied extracardiac malformation was 73.68% (14/19), while in AVSD with both intracardiac and extracardiac malformation was 78.57%(11/14). Conclusion: Fetal AVSD, especially complete type AVSD has obvious association with extracardiac and intracardiac malformations. Genomic abnormalities are common in AVSD, chromosomal abnormalities are more likely to occur when AVSD combined with extracardial malformations. Genetic testing is necessary when AVSD is diagnosed with prenatal ultrasound. Second-generation sequencing technology is conducive for detection of different levels of genetic abnormalities.