Omphalocele and Intrauterine Growth Restriction, an Unusual Association of two Congenital Syndromic Malformations
Keywords:
Omphalocele, Intrauterine Growth Restriction, Ultrasound, Amniocentesis, Mosaic Trisomy 18
Abstract
We report a case of a 30 year old pregnant woman. Ultrasound examination showed severe intrauterine growth restriction (IUGR) and an omphalocele. Amniocentesis was performed and the fetal chromosomal analysis showed mosaic trisomy 18. Further genetic investigations were done. The pregnancy was terminated one week later. Autopsy confirmed the ultrasound images findings. Our presentation is a very rare case report of mosaic trisomy 18, prenatal diagnosis, with important an anusual association of two congenital malformation, omphalocele and intrauterine severe growth restriction.
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References
1. Grigore M, Iliev G, Gafiteanu D, Cojocaru C. The fetal abdominal wall defects using 2D and 3D ultrasound. Pictorial essay. Med Ultrason. 2012 Dec;14(4):341-7. [PubMed]
2. Agarwal R. Prenatal diagnosis of anterior abdominal wall defects: Pictorial essay. Indian J Radiol Imaging 2005;15:361-72. [PubMed]
3. Gibbin, C., Touch, S., Broth, R. E., Berghella, V. (2003), Abdominal wall defects and congenital heart disease. Ultrasound Obstet Gynecol, 21: 334–337. doi: 10.1002/uog.93 [PubMed]
4. Chen CP, Liu FF, Jan SW, Sheu JC, Huang SH, Lan CC. Prenatal diagnosis and perinatal aspects of abdominal wall defects. Am J Perinatol. 1996 Aug;13(6):355-61. [PubMed]
5. Axt R, Quijano F, Boos R, Hendrik HJ, Jessberger HJ, Schwaiger C, Schmidt W. Omphalocele and gastroschisis: prenatal diagnosis and peripartal management. A case analysis of the years 1989-1997 at the Department of Obstetrics and Gynecology, University of Homburg/Saar. Eur J Obstet Gynecol Reprod Biol. 1999 Nov; 87(1):47-54. [PubMed]
6. Stoll C, Alembik Y, Dott B, Roth MP. Risk factors in congenital abdominal wall defects (omphalocele and astroschisis): a study in a series of 265,858 consecutive births. Ann Genet. 2001 Oct-Dec; 44(4):201-8. [PubMed]
7. Baird PA, MacDonald EC. An epidemiologic study of congenital malformations of the anterior abdominal wall in more than half a million consecutive live births. American Journal of Human Genetics 1981;33(3):470-478.
8. Albu D., Albu C., Severin E., Dumitrescu M. Prenatal ultrasound and genetic diagnosis of Edwards syndrome asssociated with omphalocele. The Journal of Maternal-Fetal & Neonatal Medicine, Volume 21, Suppl.1 2008: 21-280.
9. Deva D., Albu D., Albu C., Severin E. The role of early 3D/4D ultrasonography scan in the detection of mild ventriculomegaly and omphalocele in 32 cases of trisomy 18. Ultrasound in Obstetrics & Gynecology, 2010; 36 (Suppl. 1): 168–305.
10. Albu D., Albu C., Oncescu A., Dumitrescu M. Prenatal ultrasound diagnosis of fetus with facial clefts, omphalocele and abnormal karyotype: mosaic 47,XY,+18(26)/46,XY(7). Archives of Disease in Childhood, Volume 97, Suppl. 2, ADC October 2012: 123.
11. Oncescu A, Albu D, Albu C, Enache A and Enache T. P25.14: The utility of ultrasound examination in the prenatal diagnosis of a fetus with omfalocele, severe intrauterine growth restriction and mosaic trisomy 18 syndrome: case report. Ultrasound Obstet Gynecol,201; 40: 267. doi: 10.1002/uog.12107. [PubMed]
12. Chen CP, Lee CC, Chang TY, Town DD, Wang W. Prenatal diagnosis of mosaic distal 5p deletion and review of the literature.Prenat Diagn. 2004 Jan; 24(1):50-7. [PubMed]
13. Hou WC, Chen CP, Hwang KS, Chen YC, Lai YJ, Tien CY, Su HY. Prenatal diagnosis of a de novo 9p terminal chromosomal deletion in a fetus with major congenital anomalies.Taiwan J Obstet Gynecol. 2014 Dec ;53(4):602-5. doi: 10.1016/j.tjog.2014.09.005. [PubMed]
14. Chen CP, Lee CC, Chang TY, Town DD, Wang W . Prenatal diagnosis of mosaic distal 5p deletion and review of the literature..Prenat Diagn. 2004 Jan; 24(1):50-7. [PubMed]
15. Chen CP, Su YN, Lin TH, Chang TY, Su JW, Wang W . Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: prenatal diagnosis and literature review.Taiwan J Obstet Gynecol. 2013 Dec; 52(4):580-5.
16. Fitas A, Paiva M, Cordeiro AI, Nunes L, Cordeiro-Ferreira G. Mosaic Trisomy 18. Five-Month-Old Infant, Case Reports. Pediatrics, vol. 2013, Article ID 929861, 3 pages, 2013. doi:10.1155/2013/929861 [PubMed]
17. J. C. Carey. Trisomy 18 and trisomy 13 syndromes. Management of Genetic Syndromes, S. B. Cassidy and J. E. Allanson, Eds., pp. 555–568, Wiley-Liss, New York, NY, USA, 2nd edition, 2005. [PubMed]
18. Bettio D, Levi Setti P, Bianchi P, Grazioli V. Trisomy 18 mosaicism in a woman with normal intelligence. Am J Med Genet A. 2003 Jul 15;120A(2):303-4. [PubMed]
19. Harrison KJ, Barrett IJ, Lomax BL, Kuchinka BD, Kalousek DK. Detection of confined placental mosaicism in trisomy 18 conceptions using interphase cytogenetic analysis. Hum Genet. 1993 Oct;92(4):353-8.
2. Agarwal R. Prenatal diagnosis of anterior abdominal wall defects: Pictorial essay. Indian J Radiol Imaging 2005;15:361-72. [PubMed]
3. Gibbin, C., Touch, S., Broth, R. E., Berghella, V. (2003), Abdominal wall defects and congenital heart disease. Ultrasound Obstet Gynecol, 21: 334–337. doi: 10.1002/uog.93 [PubMed]
4. Chen CP, Liu FF, Jan SW, Sheu JC, Huang SH, Lan CC. Prenatal diagnosis and perinatal aspects of abdominal wall defects. Am J Perinatol. 1996 Aug;13(6):355-61. [PubMed]
5. Axt R, Quijano F, Boos R, Hendrik HJ, Jessberger HJ, Schwaiger C, Schmidt W. Omphalocele and gastroschisis: prenatal diagnosis and peripartal management. A case analysis of the years 1989-1997 at the Department of Obstetrics and Gynecology, University of Homburg/Saar. Eur J Obstet Gynecol Reprod Biol. 1999 Nov; 87(1):47-54. [PubMed]
6. Stoll C, Alembik Y, Dott B, Roth MP. Risk factors in congenital abdominal wall defects (omphalocele and astroschisis): a study in a series of 265,858 consecutive births. Ann Genet. 2001 Oct-Dec; 44(4):201-8. [PubMed]
7. Baird PA, MacDonald EC. An epidemiologic study of congenital malformations of the anterior abdominal wall in more than half a million consecutive live births. American Journal of Human Genetics 1981;33(3):470-478.
8. Albu D., Albu C., Severin E., Dumitrescu M. Prenatal ultrasound and genetic diagnosis of Edwards syndrome asssociated with omphalocele. The Journal of Maternal-Fetal & Neonatal Medicine, Volume 21, Suppl.1 2008: 21-280.
9. Deva D., Albu D., Albu C., Severin E. The role of early 3D/4D ultrasonography scan in the detection of mild ventriculomegaly and omphalocele in 32 cases of trisomy 18. Ultrasound in Obstetrics & Gynecology, 2010; 36 (Suppl. 1): 168–305.
10. Albu D., Albu C., Oncescu A., Dumitrescu M. Prenatal ultrasound diagnosis of fetus with facial clefts, omphalocele and abnormal karyotype: mosaic 47,XY,+18(26)/46,XY(7). Archives of Disease in Childhood, Volume 97, Suppl. 2, ADC October 2012: 123.
11. Oncescu A, Albu D, Albu C, Enache A and Enache T. P25.14: The utility of ultrasound examination in the prenatal diagnosis of a fetus with omfalocele, severe intrauterine growth restriction and mosaic trisomy 18 syndrome: case report. Ultrasound Obstet Gynecol,201; 40: 267. doi: 10.1002/uog.12107. [PubMed]
12. Chen CP, Lee CC, Chang TY, Town DD, Wang W. Prenatal diagnosis of mosaic distal 5p deletion and review of the literature.Prenat Diagn. 2004 Jan; 24(1):50-7. [PubMed]
13. Hou WC, Chen CP, Hwang KS, Chen YC, Lai YJ, Tien CY, Su HY. Prenatal diagnosis of a de novo 9p terminal chromosomal deletion in a fetus with major congenital anomalies.Taiwan J Obstet Gynecol. 2014 Dec ;53(4):602-5. doi: 10.1016/j.tjog.2014.09.005. [PubMed]
14. Chen CP, Lee CC, Chang TY, Town DD, Wang W . Prenatal diagnosis of mosaic distal 5p deletion and review of the literature..Prenat Diagn. 2004 Jan; 24(1):50-7. [PubMed]
15. Chen CP, Su YN, Lin TH, Chang TY, Su JW, Wang W . Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: prenatal diagnosis and literature review.Taiwan J Obstet Gynecol. 2013 Dec; 52(4):580-5.
16. Fitas A, Paiva M, Cordeiro AI, Nunes L, Cordeiro-Ferreira G. Mosaic Trisomy 18. Five-Month-Old Infant, Case Reports. Pediatrics, vol. 2013, Article ID 929861, 3 pages, 2013. doi:10.1155/2013/929861 [PubMed]
17. J. C. Carey. Trisomy 18 and trisomy 13 syndromes. Management of Genetic Syndromes, S. B. Cassidy and J. E. Allanson, Eds., pp. 555–568, Wiley-Liss, New York, NY, USA, 2nd edition, 2005. [PubMed]
18. Bettio D, Levi Setti P, Bianchi P, Grazioli V. Trisomy 18 mosaicism in a woman with normal intelligence. Am J Med Genet A. 2003 Jul 15;120A(2):303-4. [PubMed]
19. Harrison KJ, Barrett IJ, Lomax BL, Kuchinka BD, Kalousek DK. Detection of confined placental mosaicism in trisomy 18 conceptions using interphase cytogenetic analysis. Hum Genet. 1993 Oct;92(4):353-8.
CITATION
DOI: 10.17511/ijmrr.2015.i3.050
Published: 2015-04-30
How to Cite
1.
Albu D-F, Albu C-C, Albu S-D. Omphalocele and Intrauterine Growth Restriction, an Unusual Association of two Congenital Syndromic Malformations. Int J Med Res Rev [Internet]. 2015Apr.30 [cited 2024Nov.23];3(3):341-4. Available from: https://ijmrr.medresearch.in/index.php/ijmrr/article/view/236
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Case Report
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