Understanding Edwards Syndrome (Trisomy 18) : What Parents Need to Know

Expecting a baby brings immense joy and hope to your family. Yet, facing unexpected health news during pregnancy can feel overwhelming and deeply frightening. If you or someone you love received a diagnosis or suspect a genetic condition, you are not alone in this journey.

Today, we will explore Edwards Syndrome, also known as Trisomy 18. We will break down complex medical terms into clear, simple English so you can understand what happens, how doctors diagnose it, and what kind of care is available for your baby.

What Is Edwards Syndrome?

Edwards Syndrome is a serious genetic condition that severely affects how a baby's body grows and develops. Babies born with this condition usually have a very low birth weight. They also show distinct physical features and multiple birth defects.

Hearing this diagnosis can cause sadness, confusion, and fear. It is completely normal to feel this way. Learning more about the condition can help you navigate this difficult time with your doctor.

Who Can Get Edwards Syndrome?

Edwards Syndrome can affect the baby of any parent. It occurs purely by chance when an extra copy of the 18th chromosome forms in the baby's cells. You cannot predict it beforehand.

Research shows that the chance of having a baby with this condition rises slightly if the mother is over age 35 when pregnant. However, if one pregnancy is affected, the chance of it happening again in a future pregnancy is very low, staying under 1 percent.

How Common Is Edwards Syndrome?

Among babies born alive, Edwards Syndrome occurs in about 1 out of every 5,000 to 6,000 births. During pregnancy, doctors detect it slightly more often, in about 1 out of every 2,500 pregnancies.

Sadly, because of severe complications linked to this condition, at least 95 percent of affected pregnancies end in miscarriage or stillbirth before birth.

When Was Edwards Syndrome Discovered?

Medical researchers first identified Edwards Syndrome in 1960. John Hilton Edwards and his research team studied a newborn baby who had multiple physical birth defects and severe intellectual development delays.

The team discovered that an extra third copy of the 18th chromosome, known scientifically as Trisomy 18, caused these severe health challenges.

What Are the Symptoms of Edwards Syndrome?

Signs of Edwards Syndrome appear both before and after birth. The main features include slow physical growth, multiple birth defects, and severe developmental delays or learning disabilities.

Signs Visible During Pregnancy.

Your doctor may check for specific signs during routine ultrasound scans during your pregnancy:

• Very low physical movement of the fetus inside the womb.
• Only one single artery in the umbilical cord instead of the usual two.
• A very small placenta.
• Visible physical birth defects.
• A high level of amniotic fluid surrounding the baby, known as polyhydramnios.

While some babies with Edwards Syndrome are born alive, many pregnancies end in a miscarriage or stillbirth during the first three months.

Signs Visible After Birth.

After birth, doctors and nurses look for specific physical signs that point to Edwards Syndrome:

• Low muscle tone, or hypotonia, making the baby feel very floppy.
• Ear lobes positioned lower than usual on the head.
• Internal organs, such as the heart and lungs, not fully formed or working differently.
• Severe intellectual and developmental delays.
• Fingers overlapping one another and feet turning inward, known as clubfeet.
• A very small body, head, mouth, and jaw.
• A very weak cry with low response to loud sounds.

Severe Symptoms of Edwards Syndrome.

Because the body does not develop fully, the complications of Edwards Syndrome are severe and often life-threatening. Common severe complications include:

• Congenital heart disease and kidney disease.
• Severe breathing failure and respiratory distress.
• digestive tract and abdominal wall defects.
• Hernias.
• Spine curvature, known as scoliosis.

What Causes Edwards Syndrome?

Edwards Syndrome occurs because a baby has three copies of the 18th chromosome instead of the normal two copies.

Normally, human cells contain 46 chromosomes organized into 23 pairs. These chromosomes carry our DNA, which provides instructions for how our bodies grow and function. We inherit one set from our mother and one set from our father.

During cell division in eggs and sperm cells, chromosomes are supposed to split evenly so each new cell gets 23 chromosomes. Sometimes, a chromosome pair fails to separate properly. Both copies go into the same egg or sperm cell. When that cell joins with another cell during fertilization, the total number becomes three.

This chromosome error happens completely by chance. It is entirely random, and nothing you did or did not do before or during pregnancy caused it.

How Do Doctors Diagnose Edwards Syndrome?

Diagnosis of Edwards Syndrome usually starts during pregnancy. Doctors confirm the diagnosis either before birth or soon after delivery through specialized testing.

What Tests Identify Edwards Syndrome?

If routine prenatal scans show potential signs of Edwards Syndrome, your doctor may recommend diagnostic tests to confirm the condition:

• Amniocentesis: Between weeks 15 and 20 of pregnancy, your doctor takes a small sample of amniotic fluid to check the baby's chromosomes.
• Chorionic Villus Sampling (CVS): Between weeks 10 and 13 of pregnancy, your doctor takes a tiny sample of tissue from the placenta to test for genetic conditions.
• Screening Blood Tests: After week 10 of pregnancy, a maternal blood test can check for increased risks of common chromosome conditions like Trisomy 18.

After birth, doctors can perform an ultrasound of the heart and other imaging tests to identify structural problems and start immediate supportive care.

How Do Doctors Treat Edwards Syndrome?

Because the condition is severe, doctors typically provide comfort care for babies born alive. Comfort care focuses on keeping the baby warm, pain-free, and comfortable. Treatment plans vary for each baby based on the severity of their symptoms. There is no cure for Edwards Syndrome.

Medical management options may include:

• Heart Care: Almost all babies with Trisomy 18 have heart issues. While major surgery is not safe or possible for every baby, doctors evaluate each case individually.
• Feeding Support: Delayed physical growth makes regular feeding difficult. Babies often need a feeding tube during their early days to receive proper nutrition.
• Orthopedic Care: Conditions like scoliosis can affect movement and comfort. Braces or specialized physical support help manage these issues.
• Emotional and Social Support: Families coping with Edwards Syndrome need strong support systems. Counseling helps parents process grief and navigate complex medical decisions.

Can You Lower the Risk of Edwards Syndrome?

Because Edwards Syndrome results from a random genetic variation, you cannot prevent it from happening. However, if you plan future pregnancies, genetic counseling and preimplantation genetic testing with in vitro fertilization (IVF) can help reduce the chance of passing on chromosome conditions.

Talk with your doctor about genetic counseling if you have questions or concerns about family planning.

What Happens When a Child Has Edwards Syndrome?

Edwards Syndrome has no cure. Most pregnancies end in miscarriage or stillbirth. Among pregnancies reaching the third trimester, about 40 percent do not survive labor, and about one-third of live-born babies arrive prematurely.

Survival rates for babies born with Edwards Syndrome are low:

• 60 to 75 percent survive their first week.
• 20 to 40 percent survive their first month.
• Fewer than 10 percent survive to celebrate their first birthday.

When Should You See a Doctor?

If you are pregnant and experience signs of a possible miscarriage or pregnancy complication, contact your doctor right away. Warning signs include:

• Stomach cramps or pelvic pain.
• Chills or fever.
• Backache.
• Heavy vaginal bleeding.

Questions to Ask Your Doctor.

When discussing genetic test results with your medical team, consider asking these helpful questions:

• "What is my personal risk of having a baby with a genetic condition?" .
• "What specific treatment and comfort care options are available for my baby?" .
• "What steps can I take to protect my health during this pregnancy?" .

Receiving a diagnosis of Edwards Syndrome places an immense emotional burden on parents and families. Your medical team, counselors, and support groups can provide guidance, compassion, and comfort throughout your journey.

Take-Home Message.

Categories: Edwards Syndrome, Trisomy 18, Genetic Disorders, Chromosomes, Pregnancy, Infant Health, Congenital Defects