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Tran, D. C., Nguyen, T. T. D., & Dang, P. T. (2022). Prenatal diagnosis of DiGeorge syndrome at the Prenatal Diagnosis Center of the National Hospital of Obstetrics and Gynecology: English. Vietnam Journal of Obstetrics & Gynecology, 19(4), 15-21. https://doi.org/10.46755/vjog.2021.4.1325
Abstract
Objectives: Describe ultrasound signs and amniocentesis results of fetuses diagnosed with DiGeorge syndrome at the Prenatal Diagnosis Center of the National Hospital of Obstetrics and Gynecology.
Materials and methods: 25 pregnant women who visited the Prenatal Diagnosis Center of the National Hospital of Obstetrics and Gynecology were diagnosed with DiGeorge syndrome.
Results: Abnormalities on ultrasound of DiGeorge syndrome: Congenital heart defects account for 72%, most of which are conotruncal defects. Among heart defects, the tetralogy of Fallot accounts for the highest percentage. Chromosomal abnormalities: Microdeletion 22q11.2: 80%, microduplication 22q11.2: 16%, microdeletion 10p14: 4%.
Conclusion: Congenital heart defects of which mainly conotruncal defects account for the majority of morphological abnormalities in DiGeorge syndrome. In addition to microdeletion of chromosome 22, microduplication of chromosome 22 and microdeletion of chromosome 10 is also diagnosed with DiGeorge syndrome.
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References
1. Oskarsdóttir S., Vujic M., và Fasth A. (2004). Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Arch Dis Child, 89(2), 148–151.
2. Goodship J., Cross I., LiLing J. và cộng sự. (1998). A population study of chromosome 22q11 deletions in infancy. Arch Dis Child, 79(4), 348–351.
3. McDonald-McGinn D.M., Hain H.S., Emanuel B.S. và cộng sự. (1993). 22q11.2 Deletion Syndrome. GeneReviews®. University of Washington, Seattle, Seattle (WA).
4. Delio M., Guo T., McDonald-McGinn D.M. và cộng sự. (2013). Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes. Am J Hum Genet, 92(4), 637.
5. Campbell I.M., Sheppard S.E., Crowley T.B. và cộng sự. (2018). What is new with 22q? An update from the 22q and You Center at the Children’s Hospital of Philadelphia. Am J Med Genet A, 176(10), 2058–2069.
6. Homans J.F., Tromp I.N., Colo D. và cộng sự. (2018). Orthopaedic manifestations within the 22q11.2 Deletion syndrome: A systematic review. Am J Med Genet A, 176(10), 2104–2120.
7. Bohm L.A., Zhou T.C., Mingo T.J. và cộng sự. (2017). Neuroradiographic findings in 22q11.2 deletion syndrome. Am J Med Genet A, 173(8), 2158–2165.
8. Zosmer N., Souter V.L., Chan C.S.Y. và cộng sự. (1999). Early diagnosis of major cardiac defects in chromosomally normal fetuses with increased nuchal translucency. BJOG Int J Obstet Gynaecol, 106(8), 829–833.
9. Bartsch O., Nemecková M., Kocárek E. và cộng sự. (2003). DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion. Am J Med Genet A, 117A(1), 1–5.
10. Guo X., Delio M., Haque N. và cộng sự. (2016). Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis. Hum Mol Genet, 25(17), 3754–3767.
11. Ensenauer R.E., Adeyinka A., Flynn H.C. và cộng sự. (2003). Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients. Am J Hum Genet, 73(5), 1027–1040.
12. Fischer M. và Klopocki E. (2020). Atypical 22q11.2 Microduplication with “Typical” Signs and Overgrowth. Cytogenet Genome Res, 160(11–12), 659–663.
13. Lichtner P., König R., Hasegawa T. và cộng sự. (2000). An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14. J Med Genet, 37(1), 33–37.
2. Goodship J., Cross I., LiLing J. và cộng sự. (1998). A population study of chromosome 22q11 deletions in infancy. Arch Dis Child, 79(4), 348–351.
3. McDonald-McGinn D.M., Hain H.S., Emanuel B.S. và cộng sự. (1993). 22q11.2 Deletion Syndrome. GeneReviews®. University of Washington, Seattle, Seattle (WA).
4. Delio M., Guo T., McDonald-McGinn D.M. và cộng sự. (2013). Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes. Am J Hum Genet, 92(4), 637.
5. Campbell I.M., Sheppard S.E., Crowley T.B. và cộng sự. (2018). What is new with 22q? An update from the 22q and You Center at the Children’s Hospital of Philadelphia. Am J Med Genet A, 176(10), 2058–2069.
6. Homans J.F., Tromp I.N., Colo D. và cộng sự. (2018). Orthopaedic manifestations within the 22q11.2 Deletion syndrome: A systematic review. Am J Med Genet A, 176(10), 2104–2120.
7. Bohm L.A., Zhou T.C., Mingo T.J. và cộng sự. (2017). Neuroradiographic findings in 22q11.2 deletion syndrome. Am J Med Genet A, 173(8), 2158–2165.
8. Zosmer N., Souter V.L., Chan C.S.Y. và cộng sự. (1999). Early diagnosis of major cardiac defects in chromosomally normal fetuses with increased nuchal translucency. BJOG Int J Obstet Gynaecol, 106(8), 829–833.
9. Bartsch O., Nemecková M., Kocárek E. và cộng sự. (2003). DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion. Am J Med Genet A, 117A(1), 1–5.
10. Guo X., Delio M., Haque N. và cộng sự. (2016). Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis. Hum Mol Genet, 25(17), 3754–3767.
11. Ensenauer R.E., Adeyinka A., Flynn H.C. và cộng sự. (2003). Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients. Am J Hum Genet, 73(5), 1027–1040.
12. Fischer M. và Klopocki E. (2020). Atypical 22q11.2 Microduplication with “Typical” Signs and Overgrowth. Cytogenet Genome Res, 160(11–12), 659–663.
13. Lichtner P., König R., Hasegawa T. và cộng sự. (2000). An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14. J Med Genet, 37(1), 33–37.
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