Edwards Syndrome: What is it? Causes, Diagnosis, Tests, Treatment and Life Hope

There are many types of conditions with which a newborn can be affected, such as 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 probably fatal condition in which a baby is born with an abnormal amount of chromosomes in the cells of the human body.

Commonly, babies are born with 46 chromosomes, these are usually divided into 23 pairs. Babies with trisomy 18 or the chromosome of Edwards syndrome are born with 3 copies of chromosome 18.

This rare disease can be extremely difficult to fight and most babies with the eighteenth chromosomal disorder barely survive for the first weeks or months.

Those who overcome the odds and survive their first year are known to face numerous complex and difficult medical conditions.

This disease manifests before birth and babies develop Edwards syndrome during pregnancy, which makes it difficult for them to grow properly in the womb. It is important to understand the unique challenges that a baby born with an extra chromosome faces.

What you need to know

Edwards syndrome is a disorder characterized by abnormal growth and development of babies, and may even result in a miscarriage or the birth of a dead baby.

People diagnosed with this condition have three copies of the eighteenth chromosome, which is why Edwards syndrome is often called trisomy 18.

Edwards syndrome is the result of a random error that occurs during the formation of ovules or sperm cells in the mother or father. If an egg or sperm that contains this error is fertilized, then the child will be affected.

The disorder affects 1 of 3,762 pregnancies in the United States. Although this risk seems small, the health complications and physical abnormalities associated with Edwards syndrome are serious.

These malformations and other health complications can be so life threatening that only 5-10% of babies diagnosed with Edwards syndrome will live more than a year. For this reason, it is important to understand how to manage this condition during pregnancy.

How is Edwards Syndrome diagnosed?

The combined first-trimester examination includes an ultrasound that measures the nuchal translucency and a maternal blood test used to detect and measure certain substances indicative of this condition.

Together, the results of these screening tests will tell your doctor if your child has a low or high risk of having a trisomy disorder.

Starting at week 10 of pregnancy, doctors can offer non-invasive prenatal genetic tests to determine the risk of your baby having Edwards syndrome or other trisomy disorders.

The test also detects chromosomal abnormalities such as Down syndrome (trisomy 21) and Patau syndrome (trisomy 13), in addition to many other conditions that can affect the health of your child.

This prenatal test uses a sample of the mother’s blood to detect certain substances in order to analyze whether there is a low or high probability that the child has a trisomy disorder.

The results of this test will allow your doctor to determine if other diagnostic tests should be proposed.

If screening tests indicate that there is a high risk of your child being born with Edwards syndrome, your doctor will offer you the option to perform diagnostic tests.

Because these tests are more invasive than screening tests, your doctor will often only present these options if the test results show a high risk of a chromosomal abnormality in your baby.

Diagnostic tests of chromosomal abnormalities involve analyzing a sample of the amniotic fluid or the placenta to look at the baby’s chromosomes. These tests will give your doctor an answer about whether your child has Edward’s syndrome or not.

When your baby is born, if the physical characteristics suggest Edwards syndrome, your doctor will take a sample of the baby’s blood to observe your chromosomes and confirm the diagnosis.

Most children affected with Edwards syndrome are diagnosed before birth and doctors believe that most of these babies do not survive long enough to be born.

The battle for survival begins before the birth of these babies. If they survive until birth, the symptoms of trisomy 18 can be another protracted battle to overcome. The symptoms of Edwards syndrome include several growth abnormalities such as:

  • Abnormalities of craniofacial features (the skull, neck, ears and jaw).
  • Underdeveloped nails.
  • Major defects in the heart.
  • Main deficiencies of the kidney.
  • Strongly clenched fists.

Neurodevelopmental disabilities are common. This is when the nerves in the newborn’s body begin to deteriorate in such a way that the brain and the entire nervous system have trouble functioning.

The depreciation of intrauterine growth occurs when the baby stops growing as a fetus in the womb or growth is extremely slow due to problems with its development.

Most cases of Edwards syndrome can be diagnosed prenatally, with almost 2/3 of the cases diagnosed through routine pregnancy exams 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 tests. They also help with the diagnosis of the disease by trisomy 18.

The use of serum markers with additional routine pregnancy tests, such as an ultrasound that detects nuchal translucency and most other anatomical abnormalities, can help increase the diagnostic accuracy of Edwards syndrome.

Nuchal translucency is a type of ultrasound used to detect and measure fluid behind the baby’s back and neck.

CVS or chronic villus sampling is another tool used to help diagnose trisomy 18.

The identification and diagnosis of this disease is a vital step both to prepare parents and caregivers for the future and to better identify and understand this disease that can help reduce future deaths caused by this disease.

What are the causes of Edwards syndrome?

Researchers are still unclear about the exact causes of trisomy 18, but believe that the risk of the disease manifesting is greater if the baby is conceived at a later age.

Due to the low number of survivors of the disease, researchers still can not answer predominant questions such as:

  • Can you inherit Edwards syndrome?

Doctors hope that with the development of medical technology and a strong source of funding they can identify the causes of Edwards syndrome in the not too distant future.

Who Should Consider Testing?

The risk of having a child with Edwards syndrome increases with the age of the mother. For this reason, women of advanced maternal age 35 and older can receive tests from their doctors during a prior consultation or during the first prenatal visit.

Each pregnancy is different, and each couple has the right to accept or reject the tests during pregnancy. Knowing the probability that your child is born with a chromosomal abnormality will help you make the necessary changes and prepare for the arrival and care of your child.

What is the treatment for Edwards syndrome?

The treatment of Edwards syndrome 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 expected in these circumstances is that the management of the symptoms can combat the disease itself or, at least, provide some kind of relief.

The main focus of pediatric specialists dealing with Edwards syndrome is to get the baby through the first year.

The cause of death for most of these babies during the first year is:

Heart failure : Several heart problems caused by Edwards syndrome may be the cause of death.

Neurological instability : Trisomy 18 can cause damage to the nerves, this can destabilize the central nervous system and cause a fatal outcome.

Respiratory failure : Like the heart, trisomy 18 can severely damage the lungs and lead to the death of the baby.

Babies diagnosed with trisomy 18 in mosaic or incomplete trisomy 18 will have more focused treatments towards the treatment and treatment of the symptomatic anomalies that are present due to the extreme variables present during the prognosis.

The best of the cases is very unlikely, doctors train to prepare parents and caregivers early for the extremely high mortality rate of this disease.

What is the life expectancy of babies with Edwards syndrome (trisomy 18)?

Researchers believe that the life expectancy of a baby with trisomy 18 has grim possibilities for survival.

The life expectancy of Edwards syndrome for babies on average is 3 days to 2 weeks, the duration of trisomy 18 during the first 24 hours is almost 60% to 75% and it goes down to 20% to 60% during the first week.

Life expectancy by trisomy 18 after the first week begins to deteriorate very quickly, it is expected that only 9% to 18% of babies 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:

Trisomy Mosaic 18

Trisomy with mosaic 18 is a much less severe version of the complete disease, with only 5% of babies diagnosed with this disease. This is when only parts of chromosome 18 are diagnosed as abnormal.

This is also known as incomplete trisomy 18 or partial trisomy 18

Full Trisomy 18

This is the variation of the disease that occurs when chromosome 18 is completely abnormal. This has a much higher mortality rate and is more common.

There are numerous support groups and communities to help your loved ones in difficult times like these. Your primary care physician should be able to connect you with some of the support groups, as well as recommend a psychologist to help with the management of the emotions, the therapy of affliction and achieve closure.

Where can I learn more?

If you are planning a pregnancy or if you are currently pregnant and are interested in learning more about Edwards syndrome and evaluation options, talk to your doctor or a genetic counselor.

These health professionals can help you find more information about chromosome-related conditions, as well as how to manage these conditions during pregnancy.

If a baby is born with Edwards Syndrome, it is important that the mother and family remain strong and prepare to face the circumstances. It should not dissuade you or let you lose hope in yourself.