What Is Omphalocele

  • Lucy Luikinga Graduate Student studying MSc Women’s Health, UCL
  • Maria Weissenbruch Doctor (Ph.D.), Cell and Developmental Biology, Karlsruhe Institute of Technology (KIT), Germany

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Omphalocele, also known as exomphalos, is a rare birth defect which affects the abdominal wall. This leads to the protrusion of organs including the liver, bowel and intestines into the abdomen. This condition is also associated with other birth defects and health conditions. 

Found present in 1 in 4000 to 7000 live births, omphalocele is a rare but worrying condition. Luckily, with current knowledge of the condition and how to best manage it, timely treatment will result in a 70-90% survival rate for babies with this issue. Treatment includes surgery, either a one-time, or multiple, depending on the size of the protrusion. 

When supporting a baby with omphalocele, whether you are the mother or another relative, understanding the condition, its causes, diagnosis, treatment, and outlook for the baby is important to ensure all involved receive the care they need. This article will go through all these topics and more. 

Causes of omphalocele

Omphalocele occurs at the beginning of the development of a foetus, usually in the first 6 to 11 weeks after conception.1 At this stage in development, the growing intestines push out into the umbilical cord. However, unlike in normal development when the intestines go back into the belly, this does not occur for babies born with omphalocele. A variety of factors can cause this including both genetic and environmental factors. 

Chromosomal abnormalities 

The chromosomes are found in the nucleus of living cells and contain genetic information. Normally in humans, there are 46 chromosomes found in a cell, and they hold genetic information in a particular layout. Changes to the normal structure of a chromosome can lead to certain conditions or disorders. These changes include missing parts, extra parts, or parts in the wrong place. 

Chromosomal abnormalities are involved in around 36% to 67% of cases of omphaloceles. and are usually aneuploidies.2 An aneuploid is the word used to describe either an extra or missing chromosome. This occurs when chromosomes don’t separate properly during meiosis, a process of cell division in egg or sperm. There is no way of predicting occurrence, as it is random. The two main chromosomal abnormalities seen in cases of omphalocele are trisomy 18 and trisomy 13, a condition when there is an extra copy of chromosomes 18 and 13, respectively.

Other chromosomal abnormalities are rarer and are often related to other syndromes, such as Turner syndrome, when the individual only carries one X chromosome instead of two.3 Babies with Klinefelter syndrome who carry XXY sex chromosomes are also more likely to be born with omphalocele.  

Gene mutations

Gene mutations can increase the risk of a foetus developing omphalocele. Listed are the genes that are commonly related to omphalocele development when they are faulty:

  • CDKN1C
    • Causes omphalocele associated with Beckwith-Wiedemann syndrome. 
    • When faulty, it prevents the proper division of cells needed in the functional development of a foetus.
  • FGFR1 and FGFR2
    • This gene codes for receptors which are used to regulate the development of an embryo's abdominal wall.
    • Therefore, abdominal wall development doesn’t occur properly if either of the genes does not function correctly.
  • Alx4
    • This gene plays a key role in the development of the skin and the skeleton and is key in the normal development of a baby.
    • Therefore if faulty, it can cause conditions such as omphalocele 

Genetic syndromes

Omphalocele can be linked to inherited syndromes. Here, the genetic cause of the condition is passed down through the genes of the parents instead of being a random occurrence, unlike chromosomal abnormalities or gene mutation. 

Beckwith-Wiedemann syndrome is seen in 3% to up to 22% of omphaloceles.2 In the inherited cases of this syndrome, a gene within chromosome 11 called CDKN1C is mutated, meaning it doesn’t function as it should.4 For the syndrome to be present in a baby, both parents need to carry a mutated copy of this gene. Other features seen in babies born with this syndrome include larger than average size, an enlarged tongue, and enlarged abdominal organs (such as the liver, spleen, and kidneys). 

Kagami-Ogata syndrome is an autosomal dominant genetic disease, meaning the baby only has to inherit one faulty gene copy from a parent to be afflicted. The gene that is mutated in this case is located on chromosome 14. However, this is a very rare disorder. Other very rare genetic syndromes include Miller-Dieker lissencephaly syndrome, Pallister-Killian syndrome, and Goltz syndrome. 

If omphalocele runs in the family, particularly if it has occurred in 2 consecutive generations, seeking access to genetic counselling is important. This will allow you to accurately determine what genetic syndromes your offspring may be at risk of developing and how high this risk is. This can help to make a more informed decision when planning your family. 

Environmental factors 

Environmental factors usually work in conjunction with genetic factors, rather than alone, in causing omphalocele. These include:

  • Parents who are related as second cousins or closer
  • Obesity in the mother
  • Very high or young maternal age
  • Twins or multiple babies 
  • Alcohol or substance abuse by the mother
  • Mother using antithyroid or antiepileptic drugs 
  • Exposure to harmful chemicals
    • Lead and mercury 
    • Those found in manufacturing facilities or the workplace
  • Radiation exposure
    • E.g. X-rays and chemotherapy 

If you are unsure about any medication or substance that may affect your developing baby, check with your healthcare provider. 

Diagnosis 

Prenatal diagnosis 

Prenatal diagnosis is when a condition is confirmed before the birth of a baby and will most likely be done via ultrasound imaging. Diagnosis is important so an effective treatment plan can be put in place. Additionally, since omphalocele is usually accompanied by other birth defects, it is important to identify these. 

If the omphalocele is suspected by a healthcare provider in a routine ultrasound during pregnancy, the next step would be a specialist referral. A detailed level II ultrasound can be performed which is a high-resolution type of ultrasound. This is used to determine the size of the omphalocele and which of the abdominal organs in particular are protruding. Additionally, other abnormalities of the anatomy are looked for and identified. 

Other imaging techniques include ultrafast fetal MRI which can be used to confirm ultrasound findings and identify any other abnormalities with the physical development of the baby. This is also a way of determining if the lung function is as expected. A fetal echocardiogram may also be performed to assess the functioning of the heart and identify any structural issues. 

An amniocentesis is also recommended. Here, a small sample of the fluid found in the womb, the amniotic fluid, is collected. This is analysed to identify any genetic or chromosomal conditions the foetus may have andis useful to know, as it can help you prepare for the birth of your baby. 

Postnatal diagnosis 

If omphalocele is not diagnosed in pregnancy then this will be discovered at the time of birth. In this case, the healthcare providers assisting in your delivery will be able to take steps straight away to ensure your baby's health is cared for. 

An X-ray will also most likely be taken to assess the health of the baby’s organs and check for any other birth defects.

Classification of omphalocele

Omphalocele is usually classified as one of the two following categories:

  • Small/Normal/Minor
    • Here, the protruding sac is 4 cm to 5 cm, or less, in size and the liver is not contained within.  
  • Giant
    • This is a larger defect and is 5 cm or over in diameter.
    • The liver may also be present in the protruding sac. 

Cases of omphalocele are also classified as isolated or associated., with or without abnormalities, respectively. 

Associated congenital abnormalities 

Congenital abnormalities are something occuring  during the development of the baby, meaning they are born with it. Some may be apparent at the time of birth, others may only be identified as the child becomes older. 

Omphalocele is commonly associated with other congenital abnormalities, and around 50% of babies born with this condition will have some other birth defect. This is because omphalocele usually occurs as a result of a genetic disease or chromosomal abnormality which also affects other structural features in development. These include:

  • Heart defects
    • Very commonly seen. Therefore, foetuses diagnosed with an omphalocele before birth have investigations to determine the functioning of their hearts.
    • The most frequent malformation is seen in the septum of the heart, which divides the two halves. Abnormal functioning affects the proper working of the heart.5
  • Neural Defects
    • This occurs when the brain, spine, or spinal cord fails to properly develop.
    • Leads to various long-term health conditions.
  • Skeletal malformations
    • Improper development of various parts of the skeleton.
    • Seen in Rieger Syndrome, Melnick-Needles syndrome, and Cerebro-Costo-Mandibular Syndrome.

This list is by no means exhaustive but provides a brief overview. 

Classification and prognosis 

Babies with only omphalocele and no other issues have a survival rate of 90%. Unfortunately, babies with other serious problems have a survival rate of only around 70% .(6) Additionally, large or ruptured omphaloceles increase the risk of further complications.

Management and treatment 

If your baby is diagnosed with an omphalocele before birth, you will be given counselling throughout your pregnancy. This will help you prepare for the birth of your baby and agree on a plan when this time comes. The baby will also be assessed for other abnormalities. 

Surgery 

Omphalocele is treated via surgical intervention. This places the baby's organs back into its belly and is usually done right as the baby is born to prevent the risk of infection. 

In the surgery, you can expect:7

  • Your baby is to receive general anaesthetic.
  • Removal of the sac that surrounds the protruding organs. 
  • Signs of damage were checked for and any unhealthy parts of the organs were removed.
  • Organs are placed where they should be in the belly.
  • The wall of the belly is repaired and stitched back together. 

However, if the baby is not stable enough, or the omphalocele is too big enough, the surgery will be done in stages. In this case, a pouch is attached to the baby’s belly to contain the omphalocele. This is slowly tightened every few days to push the organs back into the belly. After roughly two weeks, this process will be complete, the pouch can be removed, and the belly opening is fixed. 

Post-treatment 

After undergoing surgery for omphalocele, babies require specialised post-operative care to ensure their well-being. Initially, they are closely monitored in a neonatal intensive care unit (NICU) to address any immediate concerns. The focus is on preventing infection, maintaining proper nutrition, and ensuring respiratory stability. Caregivers play a crucial role in comforting and bonding with the baby.

Long-term management involves regular follow-up appointments with paediatric specialists to assess the growth, development, and integrity of the abdominal wall repair. Physical therapy may be recommended to support muscle strength and ongoing nutritional guidance is provided to address any specific dietary needs. 

The goal is to optimise the child's overall health and ensure they achieve developmental milestones. Regular communication with healthcare professionals helps address any emerging challenges and provides ongoing support to both the child and their family.

Challenges for parents 

The birth of a baby with an omphalocele can have profound psychological and emotional effects on parents. The initial shock and uncertainty about their child's health may lead to feelings of anxiety, sadness, and fear. Parents often grapple with the stress of medical procedures and the unknown future for their child. 

Long-term management involves ongoing emotional support, counselling, and education for parents to cope with the challenges they may face. Connecting with support groups and other families in similar situations can provide a valuable network for sharing experiences and advice. 

As the child grows, parents may experience a range of emotions related to their child's development and any additional medical interventions. Acknowledging and addressing these emotional aspects is an integral part of comprehensive care for families dealing with a child born with omphalocele.

Conclusion

Omphalocele, a rare birth defect affecting the abdominal wall, leads to the protrusion of organs into the abdomen. This condition, found in 1 in 4000 to 7000 live births, necessitates timely treatment for a 70-90% survival rate. The causes range from chromosomal abnormalities and gene mutations to genetic syndromes and environmental factors. Prenatal diagnosis through ultrasounds and other imaging techniques is crucial for effective treatment planning. 

Omphalocele is classified based on size and association with other congenital abnormalities, often affecting the heart, neural development, and skeletal structures. Survival rates vary depending on associated issues. Surgical intervention is the primary treatment, involving placing organs back into the belly and repairing the abdominal wall. 

Post-treatment care, including neonatal intensive care and long-term follow-ups, focuses on preventing infections, ensuring proper nutrition, and supporting overall development. 

In navigating the complexities of omphalocele, from its causes and classifications to surgical interventions and long-term care, this article underscores the critical importance of timely diagnosis and comprehensive support for both the child and their parents, highlighting the resilience required in the face of this challenging birth defect.

References 

  1. Facts about omphalocele (2023) Centers for Disease Control and Prevention. Available at: https://www.cdc.gov/ncbddd/birthdefects/omphalocele.html#:~:text=As%20the%20baby%20develops%20during,not%20happen%2C%20an%20omphalocele%20occurs. (Accessed: 30 November 2023).
  2. Poaty, H. et al. (2019) ‘Omphalocele: A review of common genetic etiologies’, Egyptian Journal of Medical Human Genetics, 20(1). doi:10.1186/s43042-019-0040-3.
  3. NHS choices (no date) Turner Syndrome. Available at: https://www.nhs.uk/conditions/turner-syndrome/ (Accessed: 30 November 2023).
  4. The Children’s Hospital of Philadelphia (2014) Beckwith-Wiedemann syndrome, Children’s Hospital of Philadelphia. Available at: https://www.chop.edu/conditions-diseases/beckwith-wiedemann-syndrome#:~:text=Approximately%2010%20to%2015%20percent,to%20a%20child%20during%20pregnancy. (Accessed: 30 November 2023).
  5. Țarcă, E. et al. (2023) ‘Omphalocele and cardiac abnormalities—the importance of the Association’, Diagnostics, 13(8), p. 1413. doi:10.3390/diagnostics13081413.
  6. Cincinnati Childrens (no date) Omphalocele. Available at: https://www.cincinnatichildrens.org/health/o/omphalocele#:~:text=Most%20babies%20with%20omphaloceles%20do,organs%20is%20about%2070%20percent. (Accessed: 30 November 2023).
  7. Omphalocele Repair: Medlineplus medical encyclopedia (no date) MedlinePlus. Available at: https://medlineplus.gov/ency/article/002938.htm (Accessed: 30 November 2023).

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This content is purely informational and isn’t medical guidance. It shouldn’t replace professional medical counsel. Always consult your physician regarding treatment risks and benefits. See our editorial standards for more details.

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Lucy Luikinga

Graduate Student studying MSc Women’s Health, UCL

Lucy is a graduate student currently completing here MSc at UCL. In her undergrad she completed her industrial placement in a pharmaceutical lab. Now she is moving towards a career in Science Communications. Having assisted in a Research Project on the Menopause and worked in a Pharmacy during the COVID-19 pandemic, Lucy has experience across the field of healthcare.

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