17. The value of ultrasound indices in prenatal screening for Edwards’s syndrome
Main Article Content
Abstract
This research was conducted to investigate the value of various abnormal indices on fetal ultrasound in screening for Edwards syndrome. The study included two groups: 29 pregnant women who underwent prenatal diagnosis using QF-PCR and were confirmed to have Edwards syndrome, and 2283 pregnant women with normal fetal karyotypes. Via ultrasound, the Edwards Syndrome Group has cardiac abnormalities at 31.0%, clubfoot: 24.1%cleft lip/palate: 17.2%bilateral choroid plexus cysts: 17.2%, increased nuchal translucency:10.3%posterior fossa cyst: 10.3%vascular anomaly was 17.2% , diaphragmatic hernia: 6.9% , single umbilical artery: 6.9%, cystic hygroma: 6.9%and choroid plexus. Predictive Ultrasound Indices for Edwards Syndrome are Clubfoot: 30%, posterior fossa cyst:3.4% , diaphragmatic hernia: 25%, cardiac abnormalities: 24%, cystic hygroma: 15%, short femur length: 14%, bilateral choroid plexus cysts: 12%, and cleft lip/ palate: 11%.
Article Details
Keywords
Trisomy 18, Ultrasound markers, Ultrasounds indices, Edwards' syndrome
References
2. Kepple JW, Fishler KP, Peeples ES. Surveillance guidelines for children with trisomy 18. Am J Med Genet A. 2021; 185(4): 1294-1303. doi:10.1002/ajmg.a.62097.
3. Alshami A, Douedi S, Guida M, et al. Unusual Longevity of Edwardss Syndrome: A Case Report. Genes (Basel). 2020; 11(12): 1466. doi:10.3390/genes11121466.
4. López-Ríos V, Grajales-Marín E, Gómez-Zambrano V, Barrios-Arroyave FA. Prolonged survival in Edwardss syndrome with congenital heart disease: a case report and literature review. Síndrome de Edwardss con cardiopatía congénita de larga supervivencia: reporte de caso y revisión de literatura. Medwave. 2020; 20(8): e8015. doi:10.5867/medwave.2020.08.8015.
5. Sepulveda W, Wong AE, Dezerega V. First-trimester sonographic findings in trisomy 18: a review of 53 cases. Prenat Diagn. 2010; 30(3): 256-259. doi:10.1002/pd.2462.
6. Papp C, B. A., Mezei G and et al. Chorionic villus sampling in multiple gestations. Prenatal Diagnosis. 2002; (12): 377.
7. Acevedo GS, Garcia M, Benavides S A, Camargo M L, Aguinaga R M, Ramirez C J, Velazquez T B, Gallardo G J, Guzman H M. Association between selected structural defects and chromosomal abnormalities. Revista De Investigacion Clinica, 2013; 65(3): 248-254.
8. Nowakowska A, Sylwestrzak O, Strzelecka I, Oszukowski P, Responek-Liberska M, Zalinska A. Prenatal echocardiography in Trisomy 18 - the key to diagnosis and further management in the second half of pregnancy. Ginekol Pol. 2023; 94(5): 366-373. doi:10.5603/GP.a2023.0035.
9. Thurmond AS, Nelson DW, Lowensohn RI, Young WP, Davis L. Enlarged cisterna magna in trisomy 18: prenatal ultrasonographic diagnosis. American Journal of Obstetrics and Gynecology. 1989; 161: 83-85.
10. Nyberg DA, Mahony BS, Hegge FN, Hickok D, Luthy DA, Kapur R. Enlarged cisterna magna and the Dandy-Walker malformation: factors associated with chromosome abnormalities. Obstetrics and Gynecology. 1991; 77 (3), pp.436 – 442.
11. Martinez NCM, Almeida ST, Rosa RFM, Zen PRG. Prevalence and clinical characterization of oral clefts in patients with chromosome trisomy 18. Rev Paul Pediatr. 2024; 42:e2023169. doi:10.1590/1984-0462/2024/42/2023169.
12. Bronsteen R, Lee W, Vettraino IV, Huang R, Comstock CH. Second trimester sonography and trisomy 18: The significance of isolated choroid plexus cysts after an examination that includes the fetal hands. Journal of Ultrasound in Medicine. 2004; 23:241–245.
13. Papp C, Ban Z, Szigeti Z, Csaba A, Beke A, Papp Z. Role of second trimester sonography in detecting trisomy 18: a review of 70 cases. Journal of Clinical Ultrasound, 2007; 35(2): 68 – 72.
14. Chen CP. Rapid detection of maternal origin of trisomy 18 by quantitative fluorescent polymerase chain reaction in a fetus associated with increased nuchal translucency thickness and omphalocele on first-trimester prenatal ultrasound. Taiwan J Obstet Gynecol. 2024; 63(2): 272-275. doi:10.1016/j.tjog.2024.01.031.