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Published: 2022-06-15
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DOI: https://doi.org/10.52852/tcncyh.v155i7.819
Issue
Vol. 155 No. 7 (2022)
Section
Các bài báo
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Trang, N. T. ., Cường, T. D. ., Linh, Đặng A. ., Hà, Đoàn V. ., Lan, H. T. N. ., Vân, N. T. B. ., Huyền, V. T. ., Anh, N. T. ., & Quyên, L. T. . (2022). 13. Investigation of several characteristic ultrasound markers for down syndrome screening in the 1st and 2nd trimester at the National Hospital of Obstetrics and Gynecology. Journal of Medical Research, 155(7), 92-100. https://doi.org/10.52852/tcncyh.v155i7.819

13. Investigation of several characteristic ultrasound markers for down syndrome screening in the 1st and 2nd trimester at the National Hospital of Obstetrics and Gynecology

Nguyen Thi Trang, Tran Danh Cuong, Dang Anh Linh, Doan Viet ha, Hoang Thi Ngoc Lan, Nguyen Thi Bich Van, Vu Thi Huyen, Ngo Toan Anh, Le Thi Quyen

Main Article Content

Abstract

The purpose of this research is to investigate several ultrasound markers for Down syndrome screening in the first and second trimester. A descriptive cross-sectional study was conducted on 487 pregnancies diagnosed with Down syndrome by amniocentesis and karyotyping, and 4480 unaffected pregnancies at the National Hospital of Obstetrics and Gynecology from 2012 to 2021. The obtained results showed that the rate of increased nuchal translucency in fetuses with Down syndrome was 76%, the risk of Down syndrome in fetuses with increased nuchal translucency was 11.29 times as high as in fetuses without Down syndrome. The rate of ventriculomegaly in fetuses with Down syndrome was 6.4%, the risk of Down syndrome in fetuses with ventriculomegaly was 3.82 times as high as in fetuses without Down syndrome. The absence of nasal bone was detected in 11.8% of fetuses with Down syndrome, the risk of Down syndrome in fetuses with absent nasal bone was 5.46 times higher than fetuses without Down syndrome. The rate of Cystic lymphangioma in fetuses with Down syndrome was 1.5%, the risk of Down syndrome in fetuses with Cystic lymphangioma was 3.33 times as high as in fetuses without Down syndrome. The rate of fetuses with heart defects was 4.9%, the rate of choroid plexus cyst in fetuses with Down syndrome was 3.4%; there was no difference in the rate of choroid plexus cyst between fetuses with Down syndrome and fetuses without Down syndrome.

Article Details

Keywords

Down syndrome, fetal ultrasound

References

1. Hassold T, Abruzzo M, Adkins K, et al. Human aneuploidy: incidence, origin, and etiology. Environ Mol Mutagen. 1996;28(3):167-175. doi: 10.1002/(SICI)1098-2280(1996)28:3<167:AID-EM2>3.0.CO;2-B.
2. Caban-Holt A, Head E, Schmitt F. Down syndrome. In: Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease. Elsevier; 2015:163-170. doi: 10.1016/B978-0-12-410529-4.00015-2.
3. Agarwal Gupta N, Kabra M. Diagnosis and management of Down syndrome. Indian J Pediatr. 2014;81(6):560-567. doi: 10.1007/s12098-013-1249-7.
4. Nyberg DA, Luthy DA, Resta RG, Nyberg BC, Williams MA. Age-adjusted ultrasound risk assessment for fetal Down’s syndrome during the second trimester: description of the method and analysis of 142 cases. Ultrasound Obstet Gynecol. 1998;12(1):8-14. doi: 10.1046/j.1469-0705.1998.12010008.x.
5. Nadel AS, Bromley B, Frigoletto FD, Benacerraf BR. Can the presumed risk of autosomal trisomy be decreased in fetuses of older women following a normal sonogram? J Ultrasound Med Off J Am Inst Ultrasound Med. 1995;14(4):297-302. doi: 10.7863/jum.19 95.14.4.297.
6. Sanaa B, Abdenasser D, Ayoub EH. Congenital heart disease and Down syndrome: various aspects of a confirmed association. Cardiovasc J Afr. 2016;27(5):287-290. doi: 10.5830/CVJA-2016-019.
7. Raniga S, Desai PD, Parikh H. Ultrasonographic soft markers of Aneuploidy in second trimester: Are we lost? Medscape Gen Med. 2006;8(1):9.
8. Nuchal translucency scan. FMF Certification. Welcome to the Fetal Medicine Foundation. Accessed August 24, 2021. https://fetalmedicine.org/fmf-certification-2/nuchal-translucency-scan.
9. Malone FD. Nuchal translucency-based Down syndrome screening: barriers to implementation. Semin Perinatol. 2005;29(4):272-276. doi: 10.1053/j.semperi.20 05.05.002.
10. Nicolaides KH. Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Am J Obstet Gynecol. 2004;191(1):45-67. doi: 10.1016/j.ajog.2004.03.090.
11. Westin M, Saltvedt S, Bergman G, Almström H, Grunewald C, Valentin L. Is measurement of nuchal translucency thickness a useful screening tool for heart defects? A study of 16,383 fetuses. Ultrasound Obstet Gynecol Off J Int Soc Ultrasound Obstet Gynecol. 2006;27(6):632-639. doi: 10.1002/uog.2792.
12. Sanaa B, Abdenasser D, Ayoub EH. Congenital heart disease and Down syndrome: various aspects of a confirmed association. Cardiovasc J Afr. 2016;27(5):287-290. doi: 10.5830/CVJA-2016-019.
13. Paladini D, Tartaglione A, Agangi A, et al. The association between congenital heart disease and Down syndrome in prenatal life. Ultrasound Obstet Gynecol. 2000;15(2):104-108. doi: 10.1046/j.1469-0705.2000.00027.x.
14. Wessels MW, Los FJ, Frohn-Mulder IME, Niermeijer MF, Willems PJ, Wladimiroff JW. Poor outcome in Down syndrome fetuses with cardiac anomalies or growth retardation. Am J Med Genet A. 2003;116A(2):147-151. doi: 10.1002/ajmg.a.10823.
15. Nyberg DA, Luthy DA, Cheng EY, Sheley RC, Resta RG, Williams MA. Role of prenatal ultrasonography in women with positive screen for Down syndrome on the basis of maternal serum markers. Am J Obstet Gynecol. 1995;173(4):1030-1035. doi: 10.1016/0002-93 78(95)91322-x.
16. Role of second-trimester genetic sonography after Down syndrome screening. Abstract - Europe PMC. Accessed September 19, 2021. https://europepmc.org/article/med/ 19935018
17. Efficacy of community-based second trimester genetic ultrasonography in detecting the chromosomally abnormal fetus. - Wax - 2000 - Journal of Ultrasound in Medicine - Wiley Online Library. Accessed September 19, 2021. https://onlinelibrary.wiley.com/doi/abs/10.7863/jum.2000.19.10.689
18. Bromley B, Lieberman E, Shipp TD, Benacerraf BR. Fetal nose bone length: a marker for Down syndrome in the second trimester. J Ultrasound Med Off J Am Inst Ultrasound Med. 2002;21(12):1387-1394. doi: 10.7863/jum.2002.21.12.1387.
19. Viora E, Errante G, Sciarrone A, et al. Fetal nasal bone and trisomy 21 in the second trimester. Prenat Diagn. 2005;25(6):511-515. doi: 10.1002/pd.848.
20. Cicero S, Curcio P, Papageorghiou A, Sonek J, Nicolaides K. Absence of nasal bone in fetuses with trisomy 21 at 11-14 weeks of gestation: an observational study. Lancet Lond Engl. 2001;358(9294):1665-1667. doi: 10.1016/S0140-6736(01)06709-5.
21. Smith-Bindman R, Chu P, Goldberg JD. Second trimester prenatal ultrasound for the detection of pregnancies at increased risk of Down syndrome. Prenat Diagn. 2007;27(6):535-544. doi: 10.1002/pd.1725.
22. Bromley B, Lieberman R, Benacerraf BR. Choroid plexus cysts: not associated with Down syndrome. Ultrasound Obstet Gynecol Off J Int Soc Ultrasound Obstet Gynecol. 1996;8(4):232-235. doi: 10.1046/j.1469-0705. 1996.08040232.x.