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ISSN 1561-3062 (Electronic)

2019, Number 4

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Revista Cubana de Obstetricia y Ginecología 2019; 45 (4)

Down syndrome and screening during pregnancy first trimester

Vázquez MYE, Carrillo BLM, Lemus VMT

Language: Spanish
References: 15
Page: 1-14
PDF size: 324.03 Kb.


ABSTRACT

Introduction: The prenatal investigation of chromosomal abnormalities through the use of epidemiological and echographic markers on the first trimester, allows to identify pregnant women with an increased risk of Down syndrome.
Objectives: To analyze maternal age, nuchal translucency, venous ductus and nasal bone, during the first trimester screening, in pregnant women who underwent prenatal cytogenetic diagnosis, in order to evaluate effectiveness in early detection of Down syndrome and the value for reducing the number of invasive tests.
Methods: A descriptive retrospective cross-sectional study was carried out and a sample of 3439 pregnant women was studied. The cytogenetic study ordered at Havana Provincial Center for Medical Genetics was carried out from January 3, 2006 to December 30, 2008.
Results: Advanced maternal age showed 87% sensitivity and 99% of false positive rate. Nuchal translucency accounted 10% of sensitivity. The nasal bone showed no association with positive karyotypes for Down syndrome. A statistical association of the venous ductus presence could not be established since the search was not systematically.
Conclusions: The estimation of Down syndrome risk based solely on advanced maternal age determines high false positive rate. Therefore, this marker, together with the evaluation of the first trimester ultrasound markers for recalculating the individual risk, can increase the diagnostic effectiveness and decrease the number of invasive tests.


REFERENCES

  1. Langdon H. Down, J. Observations on an ethnic classification of idiots. Clinical Lectures and Reports, London Hospital. 1866;3259-62. DOI: https://doi.org/10.1038/hdy.1966.69

  2. Ashoor Al Mahri G, Nicolaides KH. Evolution in screening for Down syndrome. The Obstetrician & Gynaecologist. 2019;21:51-7. DOI: https://www.doi.org/10.1111/tog.12534

  3. Egan, JF, Benn PA, Zelop CM, Bolnick A, Gianferrari E, Borgida AF. Down syndrome births in the United States from 1989 to 2001. Am J Obstet Gynecol. [citado: 20/06/2018]; 2004;191:1044-8. Disponible en: https://www.ncbi.nlm.nih.gov/m/pubmed/15467587

  4. Nicolaides KH. Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn. 2011;31(01):7–15. 10.1002/pd.2637. DOI: https://www.doi.org/10.1002/pd.2637

  5. Committee on Practice Bulletins—Obstetrics, Committee on Genetics, and the Society for Maternal-Fetal Medicine. Practice Bulletin No. 163: screening for fetal aneuploidy. Obstet Gynecol. 2016;127(05):123–37. DOI: https://www.doi.org/10.1097/AOG.00000000000001406

  6. Park SY, Jang IA, Lee MA, KimYJ, Chun SH, Park MH. Screening for chromosomal abnormalities using combined test in the first trimester of pregnancy. Obstet Gynecol Sci. 2016;59(05):357–66. DOI: https://www.doi.org/10.5468/ogs.2016.59.5.357

  7. Baer RJ, Flessel MC, Jelliffe-Pawlowski LL, et al. Detection rates for aneuploidy by first-trimester and sequential screening. Obstet Gynecol. 2015;126(04):753–9. DOI: https://www.doi.org/10.1097/AOG.00000000000001040

  8. Fonseca EB, Cruz J, Sá RA, Di Renzo GC, Nicolaides K. Rastreamento de aneuploidias no primeiro trimestre de gestação: evolução da idade materna à avaliação do DNA fetal livre no sangue. [Internet]. Femina. [citado: 26/02/2019];2014;42:87–93. Disponible en: https://www.pesquisa.bvsalud.org/portal/resource/pt/lil-749122?lang=es

  9. Li SW, Barrett AN, Gole L, et al. The assessment of combined first trimester screening in women of advanced maternal age in an Asian cohort. [Internet] Singapore Med J. [citado: 26/02/2019];2015;56(01):47–52. Disponible en: https://www.sma.org.sg/UploadedImg/files/SMJ/5601/5601a3.pdf

  10. Manotaya S, Zitzler J, Li X, et al. Effect of ethnicity on first trimester biomarkers for combined trisomy 21 screening: results from a multicenter study in six Asian countries. Prenat Diagn. 2015;35(08):735–40. DOI: https://www.doi.org/10.1002/pd.4602

  11. Chasen ST, Sharma G, Kalish RB, Chervenak FA. First-trimester screening for aneuploidy with fetal nuchal translucency in a United States population. Ultrasound Obstet Gynecol. 2003; 2(2):149-51. DOI: https://www.doi.org/10.1002.uog.174

  12. Ward P, Gray M. National Down's syndrome Screening Programme for England. A Handbook for Staff. National Screening Committee Programmes Directorate. [citado: 26/02/2019]. Disponible en: https://www.screening.nhs.uk/

  13. Nicolaides KH, Falcon O. La ecografóa de las 11-36 semanas. Fetal Medicine Foundation. Londres. [Internet] 2004. [citado: 26/02/2019]. Disponible en: https://www.fetalmedicine.com/fmf/FMF.spanish.pdf

  14. Szabó A, Szili K, Szabó JT, Sikovanyecz J, Isaszegi D, Horváth E, Szabó J. Nasal bone lenght: prenasal thickness ratio: a strong 2D ultrasound marker for Down syndrome. Prenat Diagn. 2014;34:1139-45. DOI: https://www.doi.org/10.1002/pd.4442

  15. Manegold Brauer G, Bourdil L, Berg C, Schoetzau A, Gembruch U, Geipel A. Prenasal thickness to nasal bone lenght ratio in normal and trisomy 21 fetuses at 11-14 weeks of gestation. Prenat Diagn. 2015;35:1079-84. DOI: https://www.doi.org/10.1002/pd.4649




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