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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. As a parent, educating yourself can help you seek immediate medical attention and manage it. Read on to know what Edwards Syndrome is, its symptoms, diagnosis, etc.
Video: Edwards Syndrome in Babies
What Is Edwards Syndrome (Trisomy 18)?
Edwards syndrome, or trisomy 18, can be considered to be a rare and likely fatal condition where a baby is born with an abnormal number of chromosomes in the human body cells.
Chromosomes are nothing but tightly wound bands of genetic material called DNA. Commonly, babies are born with two sets of 22 chromosomes and a pair of the X chromosome (in the case of girls) or the X and Y chromosome (in case of boys) with a total of 46 chromosomes. The babies with trisomy 18 or Edwards syndrome chromosome are born with three copies of the 18th chromosome.
One in every 5000 babies born is diagnosed with this condition, and most babies are females. This disease is extremely hard to deal with, and the majority of babies (approximately 92%) with the 18th chromosome disorder do not survive beyond a year. Those who do beat the odds and survive their first year are known to face numerous complex and difficult medical conditions, including significant brain and body development issues. This issue develops before birth and affects foetal growth and development. It is important to understand the unique challenges faced by a baby born with the extra chromosome.
There are three 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 it. In this condition, there is a mixture of cells with a normal number and set of chromosome and cells with an extra chromosome 18.
2. Partial Trisomy 18
In this type, the body cells contain only some part of extra chromosome 18. The clinical symptoms vary depending on the extent, or which part of the extra chromosome is present. This type of Edwards syndrome is very rare.
3. Full Trisomy 18
This is the variation of the disease occurs when chromosome 18 is fully abnormal. It has a much higher fatality rate and is more common.
Readers must note that we have covered the full variant of trisomy 18 in this article.
What Are the Causes of Edwards Syndrome?
Researchers are still unclear about the exact causes of trisomy 18 but opine that the risk of the disease manifesting is higher if the baby is conceived at a more advanced age of both the mother and the father, the risk being more with an elderly mother (more than 35 years of age). Older sperms or ova are likely to have an abnormal number of chromosomes. After fusion, the abnormal number of chromosomes is passed on to the baby leading to all the defects. Due to the low number of survivors, 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 chest wall or rib cage deformities
- Major deficiencies to the kidney
- Deformed feet (rocker-bottom feet)
- Heavily clenched fists with overlapping fingers
- Defects of lungs, intestines, stomach, etc.
- Slow physical growth
- Neurodevelopmental disabilities are common. This is when the nerves in the newborn’s body begin to deteriorate in a manner that the brain and the entire nervous system has trouble functioning.
- Intrauterine growth restriction happens when the foetus stops growing, or the growth is extremely slow due to problems with its development.
Diagnosis of Edwards Syndrome
A majority of Edwards syndrome cases can be diagnosed prenatally, with almost two out of three cases diagnosed through routine pregnancy screenings during the first and second trimesters of pregnancy. Maternal Serum markers like Beta hCG, alpha-fetoprotein and unconjugated estriol and Inhibin A to some extent are used during these screenings for Downs syndrome, Turner’s syndrome, Edwards and other trisomies. 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/amniocentesis and cord blood sampling are other advanced tools used to help diagnose trisomy 18 before birth. Identification and diagnosis of this disease is a vital step towards preparing the parents and caregivers for the future as well as towards identifying and better understanding this disease, which may help reduce 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 this condition. 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 relief to the child. The primary focus of pediatric specialists dealing with Edwards syndrome is to get the baby through the first year.
Here are the possible causes of death for a majority of these babies during the first year:
- 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, which can destabilise 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 that focus on the management of symptomatic abnormalities.
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. Because of the severity of structural defects, babies with Edwards syndrome are stillborn (lifeless, but they complete nine months of pregnancy). The life expectancy for infants on average is three days to two 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.
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 you manage emotions, grief, and gain closure.
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.