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Từ khóa: SNP array, bệnh tim bẩm sinh, chẩn đoán trước sinh, siêu âm thai
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- Điều hướng trang này:
- Materials and methods
| Từ khóa:
SNP array, bệnh tim bẩm sinh, chẩn đoán trước sinh, siêu âm thai. SUMMARY APPLYING SNP ARRAY TECHNIQUE TO DETECT GENETIC ABNORMALITIES OF FETUS WITH CARDIOVASCULAR ABNORMALITIES ON ULTRASOUND Objectives: analysis of the genetic obnormalities of fetuses with echo-cardiographic abnormalities by SNP array. Materials and methods: A cross- sectional descriptive study on 62 fetuses with cardiovascular malformations on ultrasound underwent amniocentesis, during the period from 10/2022 to 6/2023, performed at the Center for Prenatal Diagnosis of the National Hospital of Obstetrics and vietnam medical journal n 0 2 - NOVEMBER - 2023 130 Gynecology. Results: SNP array detected 13/62 (21.0%) fetus with pathogenic copy number variations (CNVs), 2/62 (3.2%) fetus with variants of unknown significane (VOUS) and 4/62 (6.5%) fetus with benign CNVs. Pathogenic CNVs was detected with the highest rate in the group of multiple malformations with cardiovascular abnormalities (31.6%), the rate in the group cardiovascular abnormalities (18.5%), the lowest rate was in the group of isolated heart defects (7.6%). The detection rate of chromosomal abnormalities of SNP array is higher than that of karyotyping (21.0% compare to 6.5%) with statistical significance (p < 0.05). Conclusion: SNP array increases the overall detection of pathogenic CNVs by 14.5% compare to karyotyping, which improves the detections associated with congenital heart disease (CHD). SNP array is an effective prenatal diagnosis technique for fetuses with cardiovascular abnormalities and provides valuable insights for fetal prognosis, making prenatal counseling more effective. Keywords: SNP array, congenital heart disease, copy number variation (CNV), chromosomal abnormalities, karyotyping. tải về 0.94 Mb. Chia sẻ với bạn bè của bạn:
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