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Nguyen, P. T., Hoang, T. N. L., Tran, D. C., & Nguyen, Q. T. (2024). Genetic diagnosis of fetal cardiac malfunctions accompanying intrauterine growth restriction using SNP Array. Vietnam Journal of Obstetrics & Gynecology, 22(4), 49-54. https://doi.org/10.46755/vjog.2024.4.1743
Abstract
Objectives: Diagnosing genetic abnormalities in intrauterine growth retriction (IUGR) fetuses with cardiac malformation on ultrasound.
Subjects and Methods: Cross-sectional descriptive study performed on case files of patients admitted from August 2022 to September 2023 collected 73 fetuses with cardiac malformations undergoing amniocentesis for prenatal diagnosis at the National Hospital of Obstetric and Gynecology.
Results: 9 cases of IUGR with cardiac malformations on ultrasound were found to have genetic abnormalities, including 8 CNV (copy number variations) classified as pathogenic, 1 CNV of unknown clinical significance. The abnormal CNV were mainly concentrated in two types of cardiac malformations: ventricular septal defect and tetralogy of Fallot. In these 9 cases, SNP Array detected 4 more cases of genetic abnormalities, twice as high as the chromosome results.
Conclusion: All fetuses with congenital heart defects and IUGR were found to have genetic abnormalities and SNP Array has high superiority in prenatal diagnosis.
Keywords
References
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10. Callaway JL, Shaffer LG, Chitty LS, Rosenfeld JA, Crolla JA. The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature. Prenatal diagnosis. 2013 Dec;33(12):1119-23.
2. Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, Savage M, Platt LD, Saltzman D, Grobman WA, Klugman S. Chromosomal microarray versus karyotyping for prenatal diagnosis. New England Journal of Medicine. 2012 Dec 6;367(23):2175-84.
3. Joshua. Copel, Mary E.D’Alton. Ultrasound of normal heart fetal. 2011, chapter 76, pp 390-397
4. M. T. i. Practice. Logarithmic Ratio Transformations. pp. 146 - 152 , 2009.
5. Gynecologists A.C.o.O. Intrauterine growth restriction. ACOG practice bulletin. 2000, 12,
6. Collins FS. Medical and societal consequences of the human genome project. New England Journal of Medicine. 1999 Jul 1; 341(1):28-37.
7. Sklansky MS, Berman DP, Pruetz JD, Chang RK. Prenatal screening for major congenital heart disease: superiority of outflow tracts over the 4‐chamber view. Journal of ultrasound in medicine. 2009 Jul; 28(7):889-99.
8. Shaffer LG, Rosenfeld JA, Dabell MP, Coppinger J, Bandholz AM, Ellison JW, Ravnan JB, Torchia BS, Ballif BC, Fisher AJ. Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound. Prenatal diagnosis. 2012 Oct; 32(10):986-95
9. Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, Savage M, Platt LD, Saltzman D, Grobman WA, Klugman S. Chromosomal microarray versus karyotyping for prenatal diagnosis. New England Journal of Medicine. 2012 Dec 6; 367(23):2175-84.
10. Callaway JL, Shaffer LG, Chitty LS, Rosenfeld JA, Crolla JA. The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature. Prenatal diagnosis. 2013 Dec;33(12):1119-23.
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