The relationship between the size of the fetal nasal bone in first and second trimester ultrasound and incidence of Down syndrome

Document Type : Original Article

Authors

1 General Practitioner, Student Research Committee, Faculty of Medicine, Sabzevar University of Medical Sciences, Sabzevar, Iran.

2 Assistant Professor, Department of Obstetrics and Gynecology, Faculty of Medicine, Sabzevar University of Medical Sciences, Sabzevar, Iran.

3 Assistant Professor, Department of Community Medicine, Faculty of Medicine, Sabzevar University of Medical Sciences, Sabzevar, Iran.3734-4136

4 B.Sc. in Midwifery, School of Nursing and Midwifery, Sabzevar University of Medical Sciences, Sabzevar, Iran.

5 M.Sc. of Counseling in Midwifery, Vice President of Treatment, Sabzevar University of Medical Sciences, Sabzevar, Iran.

6 Associate Professor, Department of Obstetrics and Gynecology, Faculty of Medicine, Sabzevar University of Medical Sciences, Sabzevar, Iran.

10.22038/ijogi.2024.75445.5883

Abstract

Introduction: The nasal bone length for the diagnosis of chromosomal abnormalities is different for each ethnic group. The present study was conducted with aim to investigate the possibility of Down syndrome in cases of absence of fetal nasal bone (NB) in first trimester ultrasound and fetal nasal bone hypoplasia in the second trimester of pregnancy.
Methods: This cross-sectional study was conducted in 2016 and 2020 on 265 pregnant women referred to the Perinatology Clinic of Sabzevar University of Medical Sciences. Absence of fetal nasal bone ablation in first trimester ultrasound or fetal nasal bone hypoplasia (shorter than 5 mm or below the 5th percentile) in second trimester ultrasound were the inclusion criteria. The information of these individuals was extracted from the files and entered in the checklist. Data analysis was performed using Stata software (version 16) and Chi-square, Pearson and Fisher's exact tests. P<0.05 was considered statistically significant.
Results: In the first trimester ultrasound, 83 patients (31.3%) reported no nasal bone visibility, of which 59 patients (71.1%) had normal genetics, 16 (19.3%) had Down syndrome and the rest had abnormalities. Also, 182 patients (68.7%) had nasal bone hypoplasia in the second trimester. Of these, 178 (97.8%) had normal karyotypes and 4 (2%) had genetic abnormalities including Down syndrome, Edward syndrome, Klein filter, and other chromosomal abnormalities. There was a significant relationship between the fetal bone status in the first trimester ultrasound and genetic abnormalities (p<0.001). The correlation between fetal nasal bone hypoplasia in the second trimester ultrasound and genetic results was not statistically significant (p=0.10).
Conclusion: The absence of nasal bone visibility in the first trimester ultrasound is an important indicator in the diagnosis of genetic abnormalities, but in the second trimester examination, NB less than 5 alone cannot be relied upon.

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References

  1. Poursadegh Zonouzi AA, Ahangari N, Rajai S, Poursadegh Zonouzi A, Akbarzadeh Laleh M, Nejatizadeh A. Congenital heart defects among Down syndrome patients: a clinical profiling. Journal of Public Health 2016; 24:57-63.
  2. Arjunan SP, Thomas MC. A review of ultrasound imaging techniques for the detection of down syndrome. Irbm 2020; 41(2):115-23.
  3. 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. The lancet 2001; 358(9294):1665-7.
  4. Moreno‐Cid M, Rubio‐Lorente A, Rodríguez MJ, Bueno‐Pacheco G, Tenias JM, Román‐Ortiz C, et al. Systematic review and meta‐analysis of performance of second‐trimester nasal bone assessment in detection of fetuses with Down syndrome. Ultrasound in obstetrics & gynecology 2014; 43(3):247-53.
  5. Agathokleous M, Chaveeva P, Poon LC, Kosinski P, Nicolaides KH. Meta‐analysis of second‐trimester markers for trisomy 21. Ultrasound in Obstetrics & Gynecology 2013; 41(3):247-61.
  6. Kagan KO, Sonek J, Berg X, Berg C, Mallmann M, Abele H, et al. Facial markers in second‐and third‐trimester fetuses with trisomy 18 or 13, triploidy or Turner syndrome. Ultrasound in Obstetrics & Gynecology 2015; 46(1):60-5.
  7. Du Y, Ren Y, Yan Y, Cao L. Absent fetal nasal bone in the second trimester and risk of abnormal karyotype in a prescreened population of Chinese women. Acta Obstetricia et Gynecologica Scandinavica 2018; 97(2):180-6.
  8. Poureisa M, Daghighi MH, Khameneh RM, Majd SS. Fetal Nasal Bone Status In Iranian Women Undergoing First-Trimester Screening For Trisomy 21: A Review and an Observational Study. Iranian journal of radiology 2015; 12(4).
  9. Gautier M, Gueneret M, Plavonil C, Jolivet E, Schaub B. Normal range of fetal nasal bone length during the second trimester in an afro-Caribbean population and likelihood ratio for trisomy 21 of absent or hypoplastic nasal bone. Fetal diagnosis and therapy 2017; 42(2):130-6.
  10. Desdicioglu R, Ipek A, Desdicioglu K, Gumus M, Yavuz AF. Determination of Fetal Nasal Bone Length Nomogram in the Second Trimester İkinci Trimesterde Fetal Nasal Kemik Uzunluk Nomogramının Belirlenmesi. Smyrna Tıp Dergisi 2019; 1:33-41
  11. Heidari R, Akbariqomi M, Motevaseli E, Omrani MD, Kooshki H, Shamshiri AR, et al. Performance and predictive value of first Trimester screening markers for down syndrome in Iranian pregnancies. Journal of Family & Reproductive Health 2018; 12(3):121.
  12. Resnik R, Lockwood Ch, Moore Th, Greene M, Copel J, Silver R. Creasy and Resnik's Maternal-Fetal Medicine: Principles and Practice. 8nd Elsevier; 2019.
  13. Poureisa M, Daghighi MH, Khameneh RM, Majd SS. Fetal Nasal Bone Status In Iranian Women Undergoing First-Trimester Screening For Trisomy 21: A Review and an Observational Study. Iranian journal of radiology 2015 Oct;12(4).
  14. Masihi S, Barati M, Mohamadjafari R, Hashemi M. Assessemnt of nasal bone in first trimester screening for chromosomal abnormalities in Khuzestan. Iranian Journal of Reproductive Medicine 2014; 12(5):321.
  15. Lakshmy SR, Shobana U, Rose N. Sensitivity of nasal bone as aneuploidy marker—first trimester versus second trimester assessment. Journal of Fetal Medicine 2017; 4(03):109-17.
  16. Wojda KM, Moczulska H, Sieroszewski PJ. The absence of fetal nasal bones in ultrasound examination between 11+ 0 and 13+ 6 weeks of gestation versus the occurrence of trisomies 21, 18, and 13. Ginekologia Polska 2019; 90(10):604-6.
  17. Zhang F, Long W, Zhou Q, Wang J, Shi Y, Liu J, et al. Is prenatal diagnosis necessary for fetal isolated nasal bone absence or hypoplasia?. International Journal of General Medicine 2021: 4435-41.
  18. Papasozomenou P, Athanasiadis AP, Zafrakas M, Panteris E, Loufopoulos A, Assimakopoulos E, et al. Fetal nasal bone length in the second trimester: comparison between population groups from different ethnic origins. Journal of Perinatal Medicine 2016; 44(2):229-35.
  19. Singh C, Thakur S, Arora N, Khurana D. Revisiting absent nasal bone in the second trimester. Journal of Clinical Ultrasound 2021; 49(1):3-7.
  20. Keesara M, Routhu M, Srujana P, Thatipamula M. Outcome of Isolated Absent Fetal Nasal Bone and its Association with Aneuploidy. Int J Acad Med Pharm 2022; 4(4):92-6.
The Iranian Journal of Obstetrics, Gynecology and Infertility
Volume 27, Issue 9
November 2024
Pages 29-38

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