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 Table of Contents  
Year : 2022  |  Volume : 11  |  Issue : 2  |  Page : 105-109

A case series study of omphalocele with associated anomalies: An embryogenic imperfection

1 Associate Professor, Department of Pathology, Bhaskar Medical College and General Hospital, KNR University of Health Science, Hyderabad, Telangana, India
2 Assistant Professor, Department of Anatomy, Mamata Academy of Medical Science, KNR University of Health Sciences, Bachupally, Hyderabad, Telangana, India
3 HOD and Professor, Department of Anatomy, Kamineni Academy of Medical Sciences and Research Centre, KNR University of Health Science, Hyderabad, Telangana, India
4 Lecturer, Department of Anatomy, Kamineni Academy of Medical Sciences and Research Centre, KNR University of Health Science, Hyderabad, Telangana, India

Date of Submission01-Feb-2022
Date of Decision25-Mar-2022
Date of Acceptance28-Mar-2022
Date of Web Publication26-May-2022

Correspondence Address:
Kasturi Kshitija
Bhaskar Medical College and General Hospital, Hyderabad-500075, Telangana
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/NJCA.NJCA_29_22

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Omphalocele is a developmental aberration which occurs during embryonic period in the fetal life. The fault in complete closure of the anterior abdominal wall leading to protrusion of the abdominal viscera mainly the small and large intestines with the liver into the base of umbilical cord insertion forms its main pathological feature. It differs from gastroschisis in that the eviscerated organs are covered by a thin amniotic peritoneal membrane, whereas in latter, the herniated contents are exposed exterior with no covering. In fetuses, this malformation is known to be complicated with abnormal karyotyping, other congenital abnormalities, and idiopathic syndromes which account for grave prognosis. Hence, the aim of our study was to analyze the clinical presentation and document seven cases of fetuses having omphalocele associated with anomalies and chromosomal aberrations leading to fetal dismissal.

Keywords: Congenital anomalies, embryogenesis, fetuses, karyotyping, omphalocele

How to cite this article:
Kshitija K, Elena K, Saritha S, Savitha S. A case series study of omphalocele with associated anomalies: An embryogenic imperfection. Natl J Clin Anat 2022;11:105-9

How to cite this URL:
Kshitija K, Elena K, Saritha S, Savitha S. A case series study of omphalocele with associated anomalies: An embryogenic imperfection. Natl J Clin Anat [serial online] 2022 [cited 2022 Jul 1];11:105-9. Available from: http://www.njca.info/text.asp?2022/11/2/105/346075

  Introduction Top

In India, congenital anomalies are responsible for the fifth leading cause of neonatal mortality with a prevalence of 184.48/10,000 live births.[1] Among these anomalies, the prevalence of omphalocele is seen in 0.9–3.8/10,000 live births.[2] The pathological defect of this anomaly mainly takes place during the 6th to 12th weeks of embryogenesis.[3] During this period, there is a sudden increase in the size of the midgut and liver which reduces the intrabdominal space. Due to this reason at the 6th week, the fetal midgut undergoes 90° counterclockwise rotation and migrates from the abdominal cavity into the umbilical cord through the umbilical ring. Between 10th and 12th weeks, the midgut undergoes 180° counterclockwise rotation and returns back to the abdominal cavity with the closure of the anterior abdominal wall and umbilical ring by cephalic, caudal, and two lateral folds.[3] Defect in the closure of these folds due to the failure of differentiation of somatic mesoderm to myotome and return of herniated viscera due to malrotation results in omphalocele.[3] In omphalocele minor, the diameter of the defect is <5 cm and contains only intestinal loops in the sac, whereas in major, it is more than 5 cm with intestine, liver, or other organs in the sac.[2] Based on the cephalic, caudal, and lateral folding defects, omphalocele is divided into epigastric, hypogastric, and central types, respectively. Abnormal chromosomal karyotyping is seen in 38%–67% of cases which are trisomy 13, 14, 15, 18, 21, monosomy XO, translocations, and duplications.[3],[4] Beckwith‒Wiedermann, Pentalogy of Cantrell, and On-Line Encyclopedia of Integer Sequence (OEIS) syndrome which is a combination of anomalies comprising omphalocele, exstrophy, imperforate anus, and spinal defects are also known to occur with omphalocele.[3],[4] Additional organ anomalies associated with omphalocele major and minor are seen in more than half of the cases.[5] The prognosis is better with higher survival rates in neonates with isolated and minor omphalocele.[5]

Fetal intrauterine death, abortion, and termination of pregnancy are seen when omphalocele is associated with multiple visceral and chromosomal abnormalities.[5],[6] Hence, we document the clinical presentation of seven cases of omphalocele with complications involving organ anomalies and abnormal chromosomal karyotyping ending in fetal dismissal. This was a retrospective study done for 4 years at the Kamineni Academy of Medical Sciences and Research Centre, Hyderabad. In all of the cases, pregnant women belonged to lower-middle economic class, with no prenatal checkup, and did not take folic acid supplements. All the cases were diagnosed prenatally by ultrasonography and targeted imaging for fetal anomalies scan. Medical termination of pregnancy was done with due consent of parents in confinement and the aborted fetuses were sent to the Anatomy department for research purposes. Genetic analysis of umbilical cord blood for chromosomal karyotyping with Giemsa-banding technique was done with the consent of the parents to aid the purpose of the study. ArgusSoft software (2022, Russia) was used for automatically karyotyping the chromosomes. Autopsy protocol was followed to dissect and study the aborted fetuses. The institutional ethics committee with registration number ECR/58/Inst/AP/2013/RR-16 reviewed and approved the protocol on October 25, 2021, before the study was undertaken.

  Case Series Top

Case 1

A 29-year-old primigravida with 6 years of married life had a history of hypothyroidism and was on medication. She delivered a male fetus at 24 weeks of gestation weighing 650 g. Autopsy revealed omphalocele minor with unruptured sac containing loops of small and large intestines. The other defects noted were small jaw with atrial septal defect. It was of central type where the defect is positioned around the umbilicus. Cytogenetic analysis showed trisomy 18 [Figure 1].
Figure 1: Omphalocele minor (a) central type, (b) sac with intestinal loops (black arrow), and (c) trisomy 18 (red arrow)

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Case 2

A 31-year-old woman with gravida two, para one and one living female child was diagnosed to have iron-deficiency anemia on admission. She delivered a male fetus at 32 weeks of pregnancy weighing 890 g. Autopsy revealed omphalocele minor with unruptured sac and central type of defect. The sac contained intestinal loops. On cutting open the abdomen cavity, there was bilateral renal agenesis. External anomalies showed limb defects with the absence of the right thumb and hyperextendable left thumb. Bilateral macrodactyly of toes was also noted. External genital showed penoscrotal transposition with empty scrotum. Chromosomal karyotyping showed duplication of chromosome 15 in one of the short arms [Figure 2].
Figure 2: Omphalocele minor (a) central type with absent right thumb (black arrow), hyperextendable left thumb (red arrow), and macrodactyly of toes (yellow arrows), (b) penoscrotal transposition (white arrow) and bilateral renal agenesis (yellow arrows), and (c) duplication of the short arm of chromosome 15 (red arrow)

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Case 3

A 26-year-old woman who had consanguineous marriage had a history of three miscarriages in the past in her 5 years of married life. She was admitted with a history of amenorrhea for 5 months and acute-onset abdominal pain. A female fetus was aborted at 18 weeks of gestation. Autopsy of the fetus weighing 235 g showed omphalocele major central type. The unruptured sac revealed intestinal loops with liver and spleen. External deformity showed craniorachischisis extending up to the thoracic region which is anencephaly with the absence of cranial vault. Trisomy 21 was detected on karyotyping [Figure 3].
Figure 3: Omphalocele major (a) central type (black arrow), (b) craniorachischisis (black arrow), and (c) trisomy 21 (red arrow)

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Case 4

A 35-year-old woman with gravida four, para two, abortion two and one living male child. She delivered a stillborn female baby at 38 weeks of gestation weighing 2000 g. The baby had omphalocele major with intestinal loops and liver in unruptured sac. It was of epigastric type where the defect was located above the umbilicus. On examination, there was a combination of midline birth defects with ectopic cardiac, absence of diaphragm, and sternum constituting Pentalogy of Cantrell syndrome. Genetic analysis showed the absence of long arm of one of the X chromosome suggestive of a mosaic Turner's syndrome (46XXq-) [Figure 4].
Figure 4: Omphalocele major (a) epigastric type and ectopic cardia (black arrow), (b) Mosaic Turner syndrome (red arrow)

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Case 5

A 24-year-old woman with gravida two, para two and one living male child had consanguineous marriage. She delivered a male fetus at 25 weeks of gestation weighing 1750 g. Autopsy of the fetus revealed omphalocele major, hypogastric type where the defect is positioned below the umbilicus. The unruptured sac showed intestinal loops and liver. Additional anomalies present were bladder exstrophy, duplication of external genital, imperforate anus, and scoliosis of vertebral column constituting OEIS syndrome. Trisomy 18 was detected on karyotyping [Figure 5].
Figure 5: Omphalocele major (a) hypogastric type and bladder exstrophy (black arrow), (b) duplication of external genitalia (black arrows), (c) scoliosis, and (d) Trisomy 18 (red arrow)

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Case 6

A 37-year-old woman with gravida three, para one, abortion one, and one living female child, aborted a fetus of ambiguous sex at 18 weeks of gestation weighing 246 g. Autopsy showed OEIS syndrome consisting of omphalocele major, hypogastric type with liver and intestinal loops in unruptured sac, bladder exstrophy, absence of external genitalia, and imperforate anus. Karyotyping detected two X chromosomes and an unbalanced translocation between one of the short arms of chromosomes five and 15 [Figure 6].
Figure 6: Omphalocele major (a) hypogastric type and bladder exstrophy (black arrow), (b) absence of external genitalia and imperforate anus (black arrow), and (c) chromosome t (5;15) (red arrow)

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Case 7

A 25-year-old primigravida had a history of consanguineous marriage and aborted a female fetus at 12 weeks of gestation weighing 190 g. Autopsy revealed ruptured herniated sac with intestinal loops, liver, and urinary bladder which was not physiological herniation of the midgut into the umbilical cord. It was diagnosed as omphalocele major, hypogastric type, and not gastroschisis as the umbilical cord insertion was located in umbilical sac, whereas in latter, the location was in the paraumbilical. External defect was meningocele spinal dysraphism in the lumbar region. Karyotyping revealed two X chromosomes and an unbalanced translocation between one of the long arms of chromosomes two and six [Figure 7].
Figure 7: Omphalocele major (a) hypogastric type with intestine (black arrow), bladder (yellow arrow), and liver (red arrow) in ruptured sac, (b) meningocele (black arrow), (c) scoliosis, and (d) chromosome t (2;16) (red arrows)

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  Discussion Top

Omphalocele is one of the major congenital malformations responsible for life-threatening complications in neonates. Poaty et al. in their study stated that certain genetic factors are implicated in the etiology of omphalocele which are mutations in genes such as cyclin-dependent kinase inhibitor 1C which act as a cell cycle inhibitor; aristaless-like homeobox gene which plays a significant role in skeletal and skin development; and fibroblast growth factor receptors 1 and 2 expressed in ectoderm of the abdominal wall which regulates the embryonic development.[3] The prenatal prevalence of omphalocele is one in every 3000–5000 gestations.[7] In our study, seven cases were diagnosed during prenatal period from a total of 6021 pregnancies for 4 years with a prevalence of 1.1/1000 gestations. Liang et al. documented in their study an incidence of 0.08% of fetal omphalocele which was comparable with our study with an incidence of 0.1% of the cases.[8] Prenatal detection of omphalocele has markedly escalated in recent times due to advances in ultrasonography technology.[8] In our study, all the cases were diagnosed in the fetal period with four cases in the second trimester followed by two cases and one case during the third and first trimester, respectively. The mean maternal age in our study was 29.6 years which correlates with the study done by Conner et al.[9] Liu et al. in their study proved that lack of folic acid supplements in pregnancy had increased the prevalence of omphalocele which is consistent with our study.[10]

In our study, there was an equal number of male and female fetuses detected on scan with one ambiguous sex diagnosed on karyotyping. In studies done by Rattan et al. and Liu et al. also there is not much of difference in the gender distribution.[2],[10]

Poaty et al. and Lugo et al. in their studies observed the occurrence of chromosomal abbreviations with the most common being Trisomy 18.[3],[6] Similar findings were also noted in our study. In our study, omphalocele major was common presentation than minor which correlates with the study done by Rattan et al.[2] Our study reported central, epigastric, and hypogastric types of omphalocele, conversely, in a study done by Brantberg et al., hypogastric type was not seen.[11]

The associated anomalies of omphalocele involving genitourinary, central nervous system, and limb defects observed in our study were also seen in the study done by Brantberg et al.[11]

Pentalogy of Cantrell is a rare anomaly with a mortality rate of 95% and a prevalence of one in 65,000–2,00,000 live births.[12],[13] Mendaluk et al. and Mărginean et al. reported this unique anomaly with fetal dismissal.[12],[13] Brantberg et al. documented two cases with epigastric type.[13] We report one case of a full-term female baby with central type of omphalocele who was stillborn with a rare 46XXq-chromosome. OEIS syndrome is another very rare anomaly with an incidence of one in every 2‒4 lakh pregnancies.[14],[15] We report two cases diagnosed in the second trimester. Similar case reports are documented in studies done by MS et al. and Naureen and Ashwini.[14],[15]

The etiology of omphalocele with complicated anomalies seems to be multifactorial in nature. Therefore, regular and early prenatal checkups, maternal well-being, and nutritional status with counseling and chorionic villus sampling to detect genetic abnormalities in fetus are recommended in subsequent pregnancies to combat the mortality associated with complicated omphalocele due to limited therapeutic interventions.

  Conclusion Top

The present case series mainly focused on unusual and distinctive organ systems and chromosomal anomalies associated with omphalocele which are responsible for grave prognosis leading to intrauterine death and medical termination of pregnancy.


We thank the Department of Obstetrics and Gynecology and Genetics of Kamineni Academy of Medical Sciences and Research Centre, Hyderabad for providing the valuable specimen and support.

The authors sincerely thank those who donated their bodies to science so that anatomical research could be performed. Results from such research can potentially increase humankind's overall knowledge that can then improve patient care. Therefore, these donors and their families deserve our highest gratitude.[16]

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Bhide P, Kar A. A national estimate of the birth prevalence of congenital anomalies in India: Systematic review and meta-analysis. BMC Pediatr 2018;18:175.  Back to cited text no. 1
Rattan KN, Singh J, Jakhar R, Dalal P, Sonika P. Omphalocele: 15-years experience from a single center in developing country. J Clin Neonatol 2018;7:125-9.  Back to cited text no. 2
  [Full text]  
Poaty H, Pelluard F, Diallo MS, Ondima IP, Andre G, Massamba JF. Omphalocele: A review of common genetic etiologies. Egypt J Med Hum Genet 2019;20:37.  Back to cited text no. 3
Zahouani T, Mendez MD. Omphalocele. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2021. Available from: https://pubmed.ncbi.nlm.nih.gov/30085552/. [Last updated 2021 Jul 22].  Back to cited text no. 4
Sankalecha S, Koshire A, Anand M, Gondse B. Omphalocele: A case report. MVP J Med Sci 2014;1:42-3.  Back to cited text no. 5
Lugo NT, Algora Hernández AE, MartÃnez MH, de la Torre Santos ME, Morales OP, Armiñana EA. Prevalence and associated anomalies in gastroschisis and omphalocele cases in Villa Clara, Cuba: A 30-year series from 1990 to 2019. Biomed J Sci Tech Res 2021;36:28543-51.  Back to cited text no. 6
Cubo AM, Lapresa Alcalde MV, Gastaca I, Rodríguez-Martín MO, Martín Seisdedos MC, Velasco Ayuso MV, et al. Giant isolated omphalocele: Role of prenatal diagnosis in prognostic asessment and perinatal management. Case Rep Med 2020;2020:4578912.  Back to cited text no. 7
Liang YL, Kang L, Tsai PY, Cheng YC, Ko HC, Chang CH, et al. Prenatal diagnosis of fetal omphalocele by ultrasound: A comparison of two centuries. Taiwan J Obstet Gynecol 2013;52:258-63.  Back to cited text no. 8
Conner P, Vejde JH, Burgos CM. Accuracy and impact of prenatal diagnosis in infants with omphalocele. Pediatr Surg Int 2018;34:629-33.  Back to cited text no. 9
Liu J, Li Z, Ye R, Ren A, Liu J. Folic acid supplementation and risk for fetal abdominal wall defects in China: Results from a large population-based intervention cohort study. Br J Nutr 2021;126:1558-63.  Back to cited text no. 10
Brantberg A, Blaas HG, Haugen SE, Eik-Nes SH. Characteristics and outcome of 90 cases of fetal omphalocele. Ultrasound Obstet Gynecol 2005;26:527-37.  Back to cited text no. 11
Mendaluk T, Mościcka A, Mroziński B, Szymankiewicz M. The incomplete pentalogy of Cantrell – A case report. Pediatr Pol 2015;90:241-4.  Back to cited text no. 12
Mărginean C, Mărginean CO, Gozar L, Meliţ LE, Suciu H, Gozar H, et al. Cantrell syndrome – A rare complex congenital anomaly: A case report and literature review. Front Pediatr 2018;6:201.  Back to cited text no. 13
Sowmya M, Shashidhar S. Oeis Complex: a rare Case Report. Int J Med Res Rev 2014;2:618-20.  Back to cited text no. 14
Naureen H, Ashwini HN. An autopsy case report on OEIS Complex. Indian J Pathol Oncol 2017;4:664-6.  Back to cited text no. 15
Iwanaga J, Singh V, Ohtsuka A, Hwang Y, Kim HJ, Moryś J, et al. Acknowledging the use of human cadaveric tissues in research papers: Recommendations from anatomical journal editors. Clin Anat 2021;34:2-4.  Back to cited text no. 16


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]


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