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There are numerous types of conditions that a newborn can be affected with like birth defects and genetic conditions. Edwards syndrome is one of these extremely rare and dangerous conditions.
What is Edwards’ Syndrome (Trisomy 18)?
Edwards’ syndrome, or trisomy 18, is a rare and likely fatal condition where a baby is born with an abnormal number of chromosomes in the human body cells. Commonly, babies are born with 46 chromosomes, these are usually divided into 23 pairs. The babies with trisomy 18 or Edwards syndrome chromosome are born with 3 copies of the 18th chromosome.
This rare disease can be extremely hard to combat and most babies with the 18th chromosome disorder barely survive the first few weeks or months. Those who do beat the odds and survive their first year are known to face numerous complex and difficult medical conditions. This illness manifests before birth and babies develop Edwards syndrome in pregnancy making it hard for them to grow properly in the womb. It is important to understand the unique challenges faced by a baby born with extra chromosome.
What are the Causes of Edwards Syndrome?
Researchers are still unclear on the exact trisomy 18 causes, but opine that the risk of the disease manifesting is higher if the baby is conceived at a more advanced age. Due to the low number of survivors of the disease, researchers still cannot answer predominant questions like – can Edwards’ syndrome be inherited? Doctors are hoping that with the development of medical technology and a firm source of funding they can identify the causes of Edwards’ syndrome in the not so distant future.
Edwards’ Syndrome (Trisomy 18) Symptoms
Most children afflicted with Edwards’ syndrome are diagnosed before birth and doctors believe that most of these infants do not survive long enough to be born. The battle for survival begins before birth for these babies. If they do survive till birth, trisomy 18 symptoms can be another prolonged battle to overcome.
Symptoms of Edwards’ syndrome include several growth abnormalities like:
- Abnormalities of the craniofacial features (the skull, neck, ears, and jaw)
- Under-developed fingernails
- Major defects to the heart
- Major deficiencies to the kidney
- Heavily clenched fists where the fingers override
- Neurodevelopmental disabilities are common. This is when the nerves in the new-born’s body begin to deteriorate in a manner where the brain and the entire nervous system have trouble functioning.
- Intrauterine growth depreciation happens when the baby either stops growing as a fetus in the womb or the growth is extremely slow due to problems with its development.
Diagnosis
A majority of Edwards’ syndrome cases can be diagnosed prenatally, with almost 2/3 of the cases diagnosed through routine pregnancy screenings during the first and second trimesters of pregnancy. Beta hCG, plasma protein, alpha-fetoprotein, inhibin A and unconjugated estriol are all serum markers used during these screenings. They also help with the diagnosis of trisomy 18 disease. Using serum markers with the additional routine pregnancy tests like an ultrasound that detects nuchal translucency and most other anatomic anomalies can help increase the accuracy of the diagnosis of Edwards’ syndrome. Nuchal translucency is a type of ultrasound that is used to detect and measure the fluid behind the baby’s back and neck.
CVS or Chronic villi sampling is another tool used to help diagnose trisomy 18. Identification and diagnosis of this disease is a vital step towards both preparing the parents and caregivers for the future as well as towards identifying and better understanding this disease which may help reduce the future fatalities caused by this illness.
What is the Treatment for Edwards’ Syndrome?
Edwards’ syndrome treatment is completely dependent on the severity of the symptoms. Unfortunately, there is still no cure for babies diagnosed with Edwards’ syndrome. The best that can be hoped for under these circumstances is that the management of the symptoms can combat the disease itself, or at the very least, provide some form of reprieve to the child. The primary focus of pediatric specialists dealing with Edwards’ syndrome is to get the baby through the first year.
The cause of death for a majority of these babies during the first year is:
- Cardiac failure – Several heart problems that are caused by Edwards’ syndrome could be the cause of death.
- Neurological instability – Trisomy 18 can cause nerve damage, this can destabilize the central nervous system leading to a fatal outcome.
- Respiratory failure – Like the heart, trisomy 18 can damage the lungs severely and could lead to the death of the baby.
Infants diagnosed with mosaic trisomy 18 or incomplete trisomy 18 will have treatments more focused towards the management and treatment of symptomatic abnormalities that are present due to the extreme variables present during prognosis.
Important note: The best-case scenario is very unlikely, physicians train to prepare parents and caregivers early for the extremely high fatality rate of this disease.
What is the Lifespan for Babies with Edwards’ Syndrome(Trisomy 18)?
Researchers believe the lifespan of a baby with trisomy 18 have bleak chances of survival. Edwards’ syndrome life expectancy for infants on average is 3 days to 2 weeks, trisomy 18 life span for the first 24 hours is nearly 60% to 75% and this drops to 20% to 60% for the first week.
Trisomy 18 life expectancy beyond the first week begins to deteriorate very quickly – only 9% to 18% of infants are expected to survive the first six months and only 5% to 10% of babies survive the first full year.
Other Facts
There are two types of trisomy 18:
1. Mosaic Trisomy 18
Mosaic trisomy 18 is a much less severe version of the full disease, with only 5% of babies diagnosed with this. This is when only parts of chromosome 18 are diagnosed as abnormal.
Note: This is also known as incomplete trisomy 18 or partial trisomy 18
2. Full Trisomy 18
This is the variation of the disease that is caused when chromosome 18 is fully abnormal. This has a much higher fatality rate and is more common.
We have covered the full variant of trisomy 18 in this article.
There are numerous support groups and communities to help loved ones through challenging times like these. Your primary care physician should be able to connect you to some of the support groups as well as recommend a psychologist to help with managing emotions, grief therapy and gaining closure.
Conclusion:
If a baby is born with Edwards’ Syndrome, it is important that the mother and the family remain strong and prepare to deal with the circumstances. It should not deter you or let you lose hope in yourself.
