Omphalocele and Intrauterine Growth Restriction, an Unusual Association of two Congenital Syndromic Malformations:

Dinu-Florin Albu1, Cristina-Crenguta Albu2, Stefan-Dimitrie Albu3

1Dr. Dinu-Florin Albu, MD, PhD, Assistant Professor, Obstetrics & Gynecology and Medical Genetics, Expert in Maternal-Fetal Ultrasound and Maternal-Fetal Medicine, 2Dr. Cristina-Crenguta Albu, MD, PhD, Assistant Professor, Ophthalmology and Medical Genetics, 3Stefan-Dimitrie Albu, Medical Student. All are affiliated with University of Medicine and Pharmacy Carol Davila, Bucharest, Romania and Alco San Clinic, Maternal-Fetal Medicine Department, Bucharest, Romania

Corresponding author: Dr. Cristina-Crenguta Albu, E-mail: stevealbu@yahoo.com, 27A, Catedrei Street, 1st District, 014162, Bucharest, Romania


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.

Key words: Omphalocele, Intrauterine Growth Restriction, Ultrasound, Amniocentesis, Mosaic Trisomy 18

Introduction

Omphalocele is a midline abdominal wall defect with extrusion of abdominal viscera, covered by a membranous sac, into the base of the umbilical cord and is the one of the most common congenital malformation of the anterior abdominal wall [1, 2]. Omphalocele is frequently associated with other congenital malformations [3, 4, 5, 6]. However, the frequency of the reported associated malformations for omphalocele ranges from 27% to 63% [7].

The objective of a presentation is to determine wether omphalocele and intrauterine growth restriction (IUGR) are syndromic [8,9,10,11,12,13,14] or non syndromic [15].

Case Report

We report a case of a 30 year old Caucasian woman (Gravida 1, Para1), who was referred at 17 weeks’ gestation for abnormal 2nd trimester prenatal scan. There was no family history of congenital malformations and chromosomal abnormalities. The couple had normal general health and was not consanguineous.  Routine ultrasonography at 17 weeks of pregnancy, double and triple marker test (AFP, uE3 and hCG), selective ultrasonography for detection of fetal abnormalities, 3D and 4D live scan with Voluson Echograph E8, amniocentesis, fetal karyotype and OF-PCR were performed.

Results

Double marker test was performed at 12w+3 days and was normal

Risc type

Calculated

Standard

Age

1/1417

 

Biochemical

< 1/1000

1/380

Combinated 13/18

1/1000

1/380

Ultrasound evaluation revealed severe intrauterine growth restriction (IUGR) : 16.4 weeks - biometrical age and 20.1 weeks - cronological age , normal cerebral and heart anatomy, normal nuchal fold 2,5mm.

At the cord insertion on the anterior abdominal wall, we observed a 16 mm nonhomogenous medium echogenity image which suggested an omphalocele (Fig. 1, Fig. 2).
 
figure01
                   Fig. 1. - 2D Mode

 figure02
                Fig. 2. - 3D reconstruction

Immediate amniocentesis was performed. It revealed the elevation of the AFP 19848 IU/ml in the amniotic fluid (median deviation 11800 IU/ml). The Fluorescence in situ hybridization (FISH) analysis showed a trisomy 18 mosaicism, with 85% of the chromosomes affected. (Fig 3).

 figure03
         Fig. 3. - Kariotype 47,XY, +18

The parents decided to terminate the pregnancy one week later. Autopsy revealed the ultrasound images (Fig. 4).
 
 figure04
     Fig. 4. - After fetal demise

Discussion

Chromosomal mosaicism is the presence of more than one cell line in the same individual, and it occurs in approximately 5% of trisomy 18 cases [16, 17]. These individuals carry both a trisomy 18 and an euploid cell line. Their clinical findings are highly variable, from the absence of dysmorphic features to the complete trisomy 18 syndrome [18].

Fluorescence in situ hybridization (FISH) provides a rapid and accurate technique for detecting chromosomal aneuploidy. It is an excellent method for identifying mosaicism in placental tissues following prenatal diagnosis (19).

This study demonstrates the usefulness of amniocentesis and FISH analysis for the prenatal detection of this rare case of trisomy 18 mosaicism.

The two major anomalies, omphalocele and intrauterine severe growth restriction, were diagnosed using 3D ultrasound examination in the second trimester of pregnancy. Further evaluation of both the parents and future pregnancies should be assessed.
Prenatal ultrasound examination and genetic diagnosis was very useful in the management of a fetus with a unusual association of two congenital syndromic malformations.

Conclusions

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.

In the same time, this case provides further evidence for the benefit of advanced imaging for prenatal diagnosis and the understanding of fetal condition. More important for our patient was her better understanding of fetal disorder due to 3D findings.

Funding: Nil, Conflict of interest: None initiated.
Permission from IRB: Yes

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.

How to cite this article?

Dinu-Florin Albu, Cristina-Crenguta Albu, Stefan-Dimitrie Albu. Omphalocele and Intrauterine growth restriction, an unusual association of two Congenital syndromic malformations. Int J Med Res Rev 2015;3(3):341-344. doi:10.17511/ijmrr.2015.i3.050.