Is your baby suffering from this condition? Let's talk about Edwards Syndrome or Trisomy 18.

For those of you who are expecting to become a mother, or are expecting a new member to join your family, this may sound a little sensitive. However, there are some things that we sometimes don't like to hear, but are very important to know. Today we are going to talk about one such condition. That is Edwards Syndrome, also known as Trisomy 18, a very serious genetic condition.

What is Edwards Syndrome?

Simply put, Edwards Syndrome is a genetic condition that severely affects a baby's growth and development . Babies born with this condition are usually born with a low birth weight. They also have several different birth defects and specific physical characteristics. It's normal to feel sad and scared when you hear this. But let's talk about this further, okay?

Who can develop Edwards Syndrome (Trisomy 18)?

In fact, Edwards Syndrome (Trisomy 18) can happen to anyone's baby . It occurs randomly, meaning it's unpredicted, when an extra copy of chromosome 18 is found in the baby's cells. However, it has been found that the older the mother is, that is, if the mother is over 35 years old at the time of pregnancy, the higher the risk of this condition . But remember, if one child has this condition, the chance of the next child having it is very low (less than 1%).

How common is Edwards Syndrome (Trisomy 18)?

This condition, Edwards Syndrome (Trisomy 18), occurs in about one in every 5,000 to 6,000 live births. However, during pregnancy, the condition is slightly more common, occurring in about one in every 2,500 pregnancies. Sadly, complications associated with this diagnosis often result in the fetus being lost in the womb (miscarriage) or stillborn .

When was Edwards Syndrome (Trisomy 18) discovered?

This condition, called Edwards syndrome (Trisomy 18), was first discovered in 1960 by John Hilton Edwards and his team. They discovered it while studying a newborn baby who had various congenital abnormalities and intellectual development problems. They said that the condition was caused by the addition of a third copy of chromosome 18 (which is why it is called trisomy 18).

What are the symptoms of Edwards Syndrome (Trisomy 18)?

Symptoms of a baby with Edwards syndrome (Trisomy 18) are usually seen before and after birth . The main symptoms include very low growth, multiple birth defects, and severe developmental delays or learning disabilities .

Symptoms seen during pregnancy

Your doctor will look for these features during ultrasound scans during pregnancy:

• Very few fetal movements.
• Your umbilical cord only has one artery (usually there are two).
• The placenta is very small.
• The presence of various birth defects.
• An excessive amount of amniotic fluid surrounding the fetus is called ``polyhydramnios''.

Although some babies with Edwards Syndrome are born alive, most often they will miscarry or die in the first three months of pregnancy .

Symptoms seen after birth

After the baby is born, a baby with Edwards syndrome (Trisomy 18) may have the following physical characteristics:

• Decreased muscle tone (hypotonia) - the baby feels very soft.
• Earlobes set lower than normal.
• Internal organs (such as the heart and lungs) may not form properly or their function may change.
• Intellectual development problems (often very severe ).
• Toes that are stacked on top of each other and/or feet that are drawn together (`(clubfeet)`).
• The body, head, mouth, and jaw are very small.
• Very low crying and very low response to sounds .

Severe symptoms of Edwards syndrome (Trisomy 18)

Because the body of a baby with Edwards Syndrome (Trisomy 18) is not fully developed, the side effects of this condition are very serious, often life-threatening . Some of them include:

• Congenital heart disease and kidney disease.
• Breathing abnormalities (respiratory failure).
• Problems and birth defects of the digestive system (`(Gastrointestinal tract)`) and abdominal wall.
• Hernias (`(Hernias)`).
• Scoliosis.

Consider this: About 90% of babies with Edwards Syndrome (Trisomy 18) have heart disease. This is the leading cause of premature death in these babies, after respiratory failure.

What causes Edwards Syndrome (Trisomy 18)?

Simply put, Edwards syndrome (Trisomy 18) is caused by the presence of three copies of chromosome 18 instead of the normal two .

Now, look, we all have 46 chromosomes in our bodies, divided into 23 pairs. These chromosomes contain our DNA (the instructions that our body needs to grow and function). We get one set of these chromosomes from our mother and the other from our father.

When cells are formed, they first start as fertilized cells in the reproductive organs (sperm in men, eggs in women). These cells divide (in a process called ``meiosis'') and copy themselves to make pairs. The resulting cell has half the amount of DNA as the original cell, that is, 23 of the 46 chromosomes. Each pair of chromosomes has a number.

When these chromosome pairs are supposed to separate during the formation of eggs and sperm, sometimes one pair of chromosomes doesn't separate properly (like something sticky), and both copies end up in the same egg or sperm. Then, at fertilization, they join with the one copy from the other parent, making a total of three copies . This kind of chromosome mismatch is random, unpredictable, and not caused by anything the parents did before or during pregnancy .

When a third copy of a chromosome pair is added, it is called trisomy. Trisomy means something like "three bodies." Someone with Edwards Syndrome has a third copy of chromosome 18 in their cells.

How is Edwards Syndrome (Trisomy 18) diagnosed?

Screening for Edwards Syndrome (Trisomy 18) usually begins during pregnancy . The diagnosis is confirmed either before or after the baby is born. Your doctor will usually perform an ultrasound scan to look for signs of Edwards Syndrome (Trisomy 18) by looking at the baby's movement, the amount of amniotic fluid, and the size of the placenta. If signs of this genetic condition are found, your doctor will recommend further testing to confirm the diagnosis.

What tests are used to diagnose Edwards Syndrome (Trisomy 18)?

During pregnancy, if the baby shows symptoms of Edwards Syndrome (Trisomy 18), the doctor may suggest various tests to confirm the diagnosis, such as:

• Amniocentesis : Between 15 and 20 weeks of pregnancy, your doctor will take a small sample of amniotic fluid and test it to determine the health of your baby.
• Chorionic villus sampling (CVS) : Between 10 and 13 weeks of pregnancy, your doctor takes a small sample of cells from the placenta and tests them to look for genetic conditions.
• Screenings : After 10 weeks of pregnancy, a sample of your blood can be tested to see if your baby has common extra chromosome conditions, such as trisomy 18.

After the baby is born, the doctor will examine the baby's heart with an ultrasound scan, identify any heart problems that may have been caused by this diagnosis, and take steps to treat them.

How is Edwards Syndrome (Trisomy 18) treated?

In most cases, because this condition is so severe, babies born alive are given comfort care . This means helping the baby to be comfortable and not in pain. However, the treatment for Edwards Syndrome (Trisomy 18) is different for each baby, depending on the severity of the diagnosis . There is no cure for Edwards Syndrome (Trisomy 18) .

Treatments for Edwards syndrome (Trisomy 18) may include:

• Treatment for heart disease : Almost all babies with Edwards syndrome (Trisomy 18) are affected by heart disease. While not all babies can have surgery, some can.
• Feeding support : Babies with Edwards syndrome (Trisomy 18) may have difficulty eating normally due to developmental delays. They may need to be fed through a feeding tube to help with feeding problems early in life.
• Orthopedic treatment : Babies with Edwards syndrome (Trisomy 18) may have back problems, such as scoliosis. These can affect the baby's movement. Orthopedic treatment may include bracing or surgery.
• Psychological and social support : Having a baby with Edwards Syndrome (Trisomy 18) requires support for you, your family, and your baby. You will need support to cope with the grief of losing your baby, especially if you lose your baby, or to cope with your baby's complex diagnosis.

How can I reduce the risk of my baby having Edwards Syndrome (Trisomy 18)?

Since Edwards syndrome (Trisomy 18) is actually the result of a genetic mutation, there is no way to prevent this condition . However, if you qualify for genetic testing and embryo testing (preimplantation genetic testing) with in vitro fertilization (IVF), you can significantly reduce the chance of having a baby with Edwards syndrome (Trisomy 18). If you are planning to become pregnant, talk to your doctor about genetic counseling to learn about the risk of having a baby with the genetic condition.

What happens if you have a child with Edwards Syndrome (Trisomy 18)?

There is no cure for Edwards Syndrome (Trisomy 18). Most pregnancies end in miscarriage or stillbirth . Of pregnancies that survive to the third trimester, about 40% of babies with Edwards Syndrome (Trisomy 18) do not survive birth, and about one-third of those who do survive are born prematurely.

The survival rate for babies born with Edwards Syndrome (Trisomy 18) is as follows:

• Between 60% and 75% survive the first week.
• Between 20% and 40% survive the first month.
• More than 10% do not celebrate their first birthday.

Babies born with Edwards Syndrome (Trisomy 18) require special care at birth, tailored to their specific symptoms. The chance of survival is very low, especially if the baby has delayed organ development or a congenital heart defect. Of the 10% who survive their first birthday, some children go on to live fulfilling lives with great support from their family and caregivers. But they often never learn to walk or talk.

When should I see the doctor?

When a baby with Edwards syndrome (Trisomy 18) is in the womb, there is a risk of miscarriage or pregnancy loss. If you are pregnant, see a doctor immediately if you have symptoms of a miscarriage :

• Stomach ache.
• If you feel cold and have a fever.
• Back pain.
• If you are bleeding more heavily than normal (heavy bleeding).
• Lower abdominal pain.

When should I go to the emergency room?

If your baby born with Edwards Syndrome (Trisomy 18) has any of these symptoms, take him to the emergency room immediately, or call 1990 :

• If you are breathing too fast or too slow, or not breathing at all.
• If the skin or lips turn blue or purple.
• If the heartbeat is very fast.
• If it is difficult to eat.
• If the whole body is swollen.

What questions should I ask my doctor?

In this situation, you may have many questions. Ask your doctor about things like:

• "What are my risks of having a child with a genetic condition?"
• "What treatments can be given for my baby's symptoms?"
• "What can I do to ensure my baby is healthy during pregnancy?"

A diagnosis of Edwards Syndrome (Trisomy 18) can be a very difficult one. The complications that come with this condition can be overwhelming. Your doctor will help you and your family through this journey , whether it's dealing with your baby's diagnosis or coping with the loss of your baby. If you're planning to get pregnant, talk to your doctor about genetic counseling to learn about your risk of having a baby with a genetic condition.

The most important things to remember (Take-Home Message)

Okay, so, let me summarize some of the things we've talked about that I think will be important to you:

• Edwards Syndrome, or Trisomy 18, is a serious genetic condition .
• This is caused by an extra copy of chromosome 18. This is a coincidence, not the parents' fault.
• This can be detected through scans and other specialized tests (`(Amniocentesis)`, `(CVS)`) performed during pregnancy.
• There is no cure for this condition, treatment is aimed at controlling symptoms and making the baby comfortable.
• Many babies don't live long , but some children survive with the love and support of their families.
• If you are pregnant and showing signs of miscarriage, seek medical advice immediately .
• If you have been diagnosed with this condition, you are not alone . Get help from doctors, family, and counseling services.

I hope this information is helpful to you. It's hard to talk about such sensitive topics, but it's worth it to be aware.

` Edwards Syndrome, Trisomy 18, Genetic Diseases, Chromosomes, Pregnancy, Baby Health, Congenital Defects