FIRST TRIMESTER MORPHOLOGIC ULTRASOUND FEATURES OF TRISOMY 21: THE FIRST 59-CASE REPORT FROM A TERTIARY IN VIETNAM
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Abstract
Background: Down syndrome (Trisomy 21) is the most common chromosomal abnormality. First-trimester ultrasound is crucial for early screening. This study aimed to describe the first-trimester ultrasound features in fetuses diagnosed with Down syndrome. Methods: A cross-sectional, retrospective study was conducted on 59 fetuses with a confirmed diagnosis of Trisomy 21 by chorionic villus sampling or amniocentesis, with gestational age from 11 to 13+6 weeks. Results: The mean maternal age was 30.9 ± 5.4 years. The mean nuchal translucency was 3.85 ± 1.24 mm. Nasal bone abnormality was the most common finding (79.7%). Other frequent markers included tricuspid regurgitation (61%), cystic hygroma (13.6%), and cardiac defects (11.9%). Conclusion: Nasal bone abnormality, increased nuchal translucency, and tricuspid regurgitation are the most important first-trimester ultrasound markers in fetuses with Down syndrome, guiding early diagnosis.
Keywords
Down syndrome, Trisomy 21, first-trimester ultrasound, nuchal translucency, nasal bone abnormality.
Article Details
References
2. Gil MM, Quezada MS, Revello R, Akolekar R, Nicolaides KH, Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis, Ultrasound Obstet Gynecol, 2017, 50(3), tr. 302-314.
3. International Society of Ultrasound in Obstetrics and Gynecology, Bilardo, C.M., Chaoui, R., Hyett, J.A., Kagan, K.O., Karim, J.N., Papageorghiou, A.T., Poon, L.C., Salomon, L.J., Syngelaki, A. and Nicolaides, K.H. (2023), ISUOG Practice Guidelines (updated): performance of 11–14-week ultrasound scan. Ultrasound Obstet Gynecol, 61: 127-143.
4. Mardy AH, Norton ME. Diagnostic testing after positive results on cell free DNA screening: CVS or Amnio? Prenat Diagn. 2021; 41(10): 1249-1254.
5. 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), tr. 1665-1667.
6. Kagan, K.O., Valencia, C., Livanos, P., Wright, D. and Nicolaides, K.H. (2009), Tricuspid regurgitation in screening for trisomies 21, 18 and 13 and Turner syndrome at 11 + 0 to 13 + 6 weeks of gestation. Ultrasound Obstet Gynecol, 33: 18-22.
7. Maiz, N., Valencia, C., Kagan, K.O., Wright, D. and Nicolaides, K.H. (2009), Ductus venosus Doppler in screening for trisomies 21, 18 and 13 and Turner syndrome at 11–13 weeks of gestation. Ultrasound Obstet Gynecol, 33: 512-517.