Prenatal Diagnosis of Complete Trisomy 9: A Case Report and Review of the Literature

Ounjai Kor-anantakul; Chitkasaem Suwanrath; Samornmas Kanngurn; Sinitdhorn Rujirabanjerd; Thitima Suntharasaj; Sutham Pinjaroen

doi:10.1055/s-2006-931804

American Journal of Perinatology, Table of Contents

Am J Perinatol 2006; 23(2): 131-136
DOI: 10.1055/s-2006-931804

Prenatal Diagnosis of Complete Trisomy 9: A Case Report and Review of the Literature

Ounjai Kor-anantakul¹ , Chitkasaem Suwanrath¹ , Samornmas Kanngurn² , Sinitdhorn Rujirabanjerd² , Thitima Suntharasaj¹ , Sutham Pinjaroen¹

¹Department of Obstetrics and Gynecology, Prince of Songkla University, Hat Yai, Songkhla, Thailand
²Department of Pathology, Faculty of Medicine, Prince of Songkla University, Hat Yai, Songkhla, Thailand

Abstract

ABSTRACT

Complete trisomy 9 is a very rare chromosome aneuploidy, associated with specific patterns of multisystem dysmorphism and a wide spectrum of congenital anomalies. We present a case of complete trisomy 9 with prenatal sonographic findings in the second trimester. The combination of sonography and karyotyping from cordocentesis enabled us to establish the prenatal diagnosis. An additional clinical feature of this syndrome that has not been reported previously is an aortopulmonary communication. A review of the literature specifically dealing with prenatal sonographic findings with complete trisomy 9 is also presented.

KEYWORDS

Complete trisomy 9 - prenatal diagnosis - ultrasonography

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References

REFERENCES

1 Feingold M, Atkins L. Case report: a case of trisomy 9. J Med Genet. 1973; 10 184-187
2 Anneren G, Sedin G. Trisomy 9 syndrome. Acta Paediatr Scand. 1981; 70 125-128
3 Lurie I, Lazjuk G, Gurevich D, Usoev S S. Genetics of the + p9 syndrome. Hum Genet. 1976; 32 23-33
4 Nakamura Y, Sato E, Sakai K, Sakuma S, Hashimoto T, Sindou S. Abnormal chromosome 9 in a neonate program: report of three cases. Arch Pathol Lab Med. 1990; 114 185-187
5 Seller M J, Bergbaum A, Daker M G. Trisomy 9 in an embryo with spina bifida. Clin Dysmorphol. 1998; 7 217-219
6 Cantu E, Eicher D J, Pai G S, Donahue C J, Harley R A. Mosaic vs nonmosaic trisomy 9: report of a liveborn infant evaluated by fluorescence in situ hybridization and review of the literature. Am J Med Genet. 1996; 62 330-335
7 Bureau Y A, Fraser W, Fouguet B. Prenatal diagnosis of trisomy 9 mosaic presenting as a case of Dandy Walker malformation. Prenat Diagn. 1993; 13 79-85
8 Lauritsen J G. The cytogenetics of spontaneous abortion. Res Reprod. 1982; 14 3-4
9 Pinette M G, Pan Y, Chard R, Pinette S G, Blackstone J. Prenatal diagnosis of nonmosaic trisomy 9 and related ultrasound finding at 11.7 weeks. J Matern Fetal Med. 1998; 7 48-50
10 McDuffie Jr R S. Complete trisomy 9: case report with ultrasound findings. Am J Perinatol. 1994; 11 80-84
11 Benacerraf B R, Pauker S, Quade B J, Bieber F R. Prenatal sonography of trisomy 9. Prenat Diagn. 1992; 12 175-181
12 Golden J A, Schoene W C. Central nervous system malformations in trisomy 9. J Neuropathol Exp Neurol. 1993; 52 71-77
13 Satge D, Gasser B, Geneix A, Malet P, Stoll C. Hepatic calcifications in a fetus with trisomy 9 that underwent cordocentesis. Prenat Diagn. 1994; 14 303-306
14 Van den Berg C, Ramlakham S K, Van Opstal D, Brandenburg H, Halley D J, Los F J. Prenatal diagnosis of trisomy 9: cytogenetic, FISH and DNA studies. Prenat Diagn. 1997; 17 933-940
15 Lam Y H, Lee C P, Tang M HY. Low second-trimester maternal serum human chorionic gonadotrophin in a trisomy 9 pregnancy. Prenat Diagn. 1998; 18 1212-1214
16 Martinez J M, Echevarria M, Borrell A, Puerto B, Ojuel J, Fortuny A. Fetal heart rate and nuchal translucency in detecting chromosomal abnormalities other than Down syndrome. Obstet Gynecol. 1998; 92 68-71
17 Roshanfekr D, Dahl-Lyons C, Pressman E, Ural S, Blakemore K. Complete trisomy 9 in a term fetus: a case report. J Matern Fetal Med. 1998; 7 247-249
18 Sandoval R, Sepulveda W, Gutierrez J, Be C, Altieri E. Prenatal diagnosis of nonmosaic trisomy 9 in a fetus with severe renal disease. Gynecol Obstet Invest. 1999; 48 69-72
19 Murta C, Moron A, Avila M, Franca L, Vargos P. Reverse flow in the umbilical vein in a case of trisomy 9. Ultrasound Obstet Gynecol. 2000; 16 575-577
20 Sepulveda W, Wimalasumdera R C, Taylor M JO et al.. Prenatal ultrasound findings in complete trisomy 9. Ultrasound Obstet Gynecol. 2003; 22 479-483
21 Suzumori N, Sato T, Okada J et al.. Prenatal findings of complete trisomy 9. Prenat Diagn. 2003; 23 866-868
22 Yeo L, Waldrom R, Lashley S, Day-Salvatore D, Vintzileos A M. Prenatal sonographic findings associated with nonmosaic trisomy 9 and literature review. J Ultrasound Med. 2003; 22 425-430
23 Chen C P, Chern S R, Cheng S J et al.. Second-trimester diagnosis of complete trisomy 9 associated with abnormal maternal serum results, open sacral spina bifida and congenital diaphragmatic hernia, and review of the literature. Prenat Diagn. 2004; 24 455-462
24 Saura R, Traore W, Taine L et al.. Prenatal diagnosis of trisomy 9: six cases and a review of the literature. Prenat Diagn. 1995; 15 609-614
25 Sherer D M, Wang N, Thompson H O, Peterson J C, Miller M E, Metlay L A. An infant with trisomy 9 mosaicism presenting as a complete trisomy 9 by amniocentesis. Prenat Diagn. 1992; 12 31-37
26 Gosden C, Rodeck C H, Nicolaides K H, Campbell S, Eason P, Sharp J C. Fetal blood chromosome analysis: some new indications for prenatal karyotyping. Br J Obstet Gynaecol. 1985; 92 915-920
27 Watson M S, Breg W R, Hobbin J C, Mahoney M J. Cytogenetic diagnosis using midtrimester fetal blood samples: application to suspected mosaicism or other diagnostic problems. Am J Med Genet. 1984; 19 805-813

Ounjai Kor-anantakulM.D.

Department of Obstetrics and Gynecology, Faculty of Medicine, Prince of Songkla University

Hat Yai, Songkhla 90110, Thailand