During weeks 10-14 of your pregnancy most people will have a blood test done to test for a few different conditions. One blood test can test for Down Syndrome, Edwards’ syndrome, and Patau’s syndrome.
This blood test will show if your baby has Edwards’ syndrome sometimes called trisomy 18.
This syndrome is a genetic condition when the 18 chromosome is copied usually up to three times per each cell. This is a rare, very serious condition.
Causes
Edwards’ syndrome affects how the baby grows and develops. Nothing that the parent’s do causes Edwards’ syndrome. Anyone can have a baby with Edwards’ syndrome. This condition does not run in families. The chances of having a baby with Edwards’ syndrome does increase as the mother gets older. It seems that this condition is more common in girls.
Symptoms
Sadly a baby with Edwards’ syndrome usually dies either before birth or within a week of being born. Few live past their first birthday though in some cases some babies will live past their first birthday and into young adulthood.
Some symptoms that affect babies with Edwards’ syndrome are a small misshapen head, small jaw, clenched fist with overlapping fingers, low set ears, or intestines outside of the body. Edwards’ syndrome may also have trouble developing their heart, lungs and spinal column.
How severe the child is affected is dependent on the type of Edwards’ syndrome that the baby has. Other symptoms can include a cleft palate, feeding problems, breathing problems, deformed feet, heart defects, chest deformity, or slowed growth.
Types
There are three types of Edward’s syndrome. The most common type is Full Edwards’ syndrome. This is when the baby has three copies of the 18 chromosome in all cells in the body. This is the most severe type of Edwards’ syndrome. Usually babies with this type will die before they are born. If they are born they will die shortly after birth. A baby with full Edwards’ syndrome will have multiple defects.
The second type of Edwards’ syndrome is Mosaic Edwards’ syndrome. This is when the extra 18 chromosome copies are only in some cells. Since the copies of chromosomes are only in some cells the effects can be milder. Mostly how mild the condition is depends on how many copies there are of the chromosome 18 as well as what type of cells have the copy. Babies with this type of Edwards’ syndrome are born and usually make it past their first birthday and into young adulthood. Though babies with this type will never be able to live independently. This type of Edwards’ is rare. Symptoms differ from child to child.
The third type of Edwards’ syndrome is Partial Edwards’ syndrome. This is a rare type. It is the least severe of the syndrome. This is when only a section of the chromosome 18 attaches to certain cells, not the whole chromosome. How affected the child is depends on what part of the chromosome is copied and what cells it is attached to.
Diagnosis
Diagnosis is usually found out between week 10 and 14 during pregnancy. After the initial blood test is done you can also have an amniocentesis done for more information. Some people don’t have the 10-14 week blood test done. So during the mid pregnancy ultrasound your doctor will screen for Edwards’ syndrome. They will look for specific physical abnormalities.
Treatment
Each child with Edwards’ syndrome will have a different type of symptoms and different types of struggles. Some babies will have low birthweight as well as some physical symptoms. Babies though with Edwards’ syndrome will develop a personality, learn at their own pace, and have things that are special to them. Don’t think too far in advance, live in the moment with your baby day to day.
There is no cure for Edwards’ syndrome. Once diagnosed your doctor may suggest terminating the pregnancy since this condition is incurable. Less than 10% of babies with Edwards’ syndrome will survive past their first birthday. Setting up counseling sessions may be beneficial for the parents and family members.
Setting up a team of pediatricians or doctors that are knowledgeable in Edwards’ syndrome may be helpful to talk questions and concerns through. Specialist care may be needed during birth. Make sure there is a support system in place for the family members.