Trisomy 9 is a rare chromosomal disorder that often results in significant mortality. We present a case report in a low-risk pregnancy. The prenatal ultrasonography at 12 weeks of gestation showed normal nuchal translucency and the presence of the nasal bone. The anatomy scan performed by an experienced doctor revealed an abnormal four chamber view and abnormal posterior cranial fossa. First trimester biochemical analysis ( free βhCG and PAPP-A) showed high risk for trisomy 18. By amniocenthesis ( at 16 weeks of gestation ) and karyotype evaluation trisomy 9 was diagnosed and at 20 weekstermination was conducted on maternal request.
1. Feingold M, Atkins L. A case of trisomy 9. J Med Genet 1973; 10:184-7
2. Roshanfekr D, Dahl-Lyons C, Pressman E, et al. Complete trisomy 9 in a term fetus: a case report. J Mater Fetal Med1998; 7:247
3. Nakagawa M, Hashimoto K, Ohira H, et al. Prenatal diagnosis of trisomy 9. Fetal Diagn Ther2006; 21:68.
4. Pinette MG, Pan Y, Chard R, et al. Prenatal diagnosis of nonmosaic trisomy 9 and related ultrasound findings at 11.7 weeks J Mater Fetal Med1998; 7:48
5. Zuzarte R, Tan J V, Wee H Y, Yeo G S. Prenatal diagnosis of trisomy 9. Singapore Med J 2011; 52(7) : e150
6. Jones KL. Trisomy 9 mosaic syndrome. In Smith’s Recognizable Patterns of Human Malformation (5th edn). Saunders:Philadelphia, PA, 1997; 28-29
7. Olavarra AS, Sierra J, Chalbaud GG, Guerrero L, Granda A , Riera J. Trisomy 9. Unidad de Perinatologia 2002 www.sonoworld.com
8. Bijok J, Massalska D, Michałowska A, Roszkowski T, Ilnicka A, Pawłowska B, Jakiel G Severe micrognathia in the first trimester in complete trisomy 9 - a case report and literature review. Arch Perinatal Med 2012; 18(3):173-177
9. Benacerraf BR, Pauker S, Quade BJ, et al. Prenatal sonography in trisomy 9.Prenat Diagn1992; 12:175.
10. Priola V, De Vivo A, Imbesi G, et al. Trisomy 9 associated with maternal serum screening results positive for trisomy 18. Case report and review of the literature. Prenat Diagn2007; 27:1167.
11. Yeo L, Waldron R, Lashley S, et al. Prenatal sonographic findings associated with nonmosaic trisomy 9 and literature review. J Ultrasound Med2003; 22:425.
12. McDuffie RS Jr. Complete trisomy 9: a case report with ultrasound findings. Am J Perinatol 1994; 11:80-4.
13. Chen CP, Chern SR, Cheng SJ, et al. Second-trimester diagnosis of complete trisomy 9 associated with abnormal maternal serum screen results, open sacral spina bifida and congenital diaphragmatic hernia, and review of the literature. Prenat Diagn 2004; 24:455-62.
14. Tonni G, Grisolia G. Ultrasound diagnosis of central nervous system anomalies (bifid choroid plexus, ventriculomegaly, Dandy-Walker malformation) associated with multicystic dysplastic kidney disease in a trisomy 9 fetus: Case report with literature review. Journal Of Clinical Ultrasound 2013; 41; 7; p441-p447
15. Quigg MH, Diment S, Roberson J. Second-trimester diagnosis of trisomy 9 associated with abnormal maternal serum screening results. Prenat Diagn 2005; 25:966-7
16. Sepulveda W, Wimalasundera RC, Taylor MJ, et al. Prenatal ultrasound findings in complete trisomy 9. Ultrasound Obstet Gynecol 2003; 22:479
17. Callen P.W. Ultrasonography in Obstetrics and Gynecology, Fifth edition. Saunders 2008.
18. Murta C, Moron A, Avila M, Franca L, Vargas P. Reverse flow in the umbilical vein in a case of trisomy 9. Ultrasound Obstet Gynecol. 2000; 16(6):575-7
19. Sandoval R, Sepulveda W, Gutierrez J, et al. Prenatal diagnosis of nonmosaic trisomy 9 in a fetus with severe renal disease. Gynecol Obstet Invest1999; 48:69.
20. Lam YH, Lee CP, Tang MH. Low second-trimester maternal serum human chorionic gonadotrophin in a trisomy 9 pregnancy.Prenat Diagn1998; 18:1212.
21. Khoury-Collado F, Anderson VM, Haas BR, et al. Trisomy 9 screened positive for trisomy 18 by maternal serum screening. Prenat Diagn2004; 24:836.
22. Schwendemann WD, Contag SA, Wax JR, et al. Sonographic Findings in Trisomy 9. J Ultrasound Med 2009; 28(1):39-42