What is Edward Syndrome, and how does it affect children?

What is Edward Syndrome? Edward syndrome is a rare condition caused by an abnormal appearance of a chromosome. Young children with this syndrome often have developmental delays as well as severe birth defects.

Edward syndrome occurs at an incidence of 1 / 6,000. The disease is named after the scientist John H. Edwards, who first described the syndrome in 1960. Unfortunately, most fetuses with this syndrome die before they are officially born. So the actual incidence may be higher than the stated figure. Edward syndrome can affect anyone.

The following article, aFamilyToday Health will introduce the signs, the causes of the disease as well as a cure for this condition.

What is the cause of Edward syndrome (trisomy 18)?

Cells in the human body contain 23 pairs of chromosomes that are inherited from one parent. In the reproductive cells, female oocytes and male sperm cells will be responsible for contributing 23 individual chromosomes, known as 'XX' (in women) and 'XY' (in men), they will be numbered 1 - 23. If chromosome 18 is added to a chromosome immediately after fertilization will cause Edward syndrome.

Edward syndrome (trisomy 18) affects more girls than boys, and about 80% of those affected are girls. Pregnant women after the age of 35 have a higher risk of having a baby with this syndrome.

Children with Edward syndrome have an abnormal chromosome count. Children with this syndrome inherit 3 chromosome 18 instead of 2 as usual.

95% of children with Edward syndrome have the presence of trisomy 18 in all cells (Trisomy 18 whole), while 2% have a condition where a part of chromosome 18 attaches to the infected pair. Chromosome 18. The remaining 3% of children have Edward's syndrome in the form of mosaicism, which means that chromosome 18 appears only in a few cells in the body.

Signs of Edward's syndrome

Most children with Edward syndrome are congenitally ill, and in many cases are underweight. Your baby's head will be abnormally small, while the back of the head will stick out.

In addition, the baby's ears are also quite low and deformed in addition to a small jaw (mouth and jaw are both small in size). Babies may also have cleft palates or a cleft lip . Your baby's hands are usually clenched into fists, with the index finger pressed against the other fingers.

Also, a sign when your baby has Edward syndrome (trisomy 18) is a deformity of the foot, as well as the toes may be stuck together or have membranes.

This syndrome also causes the baby to have problems with the lungs and diaphragm, deformed blood vessels or some form of congenital heart disease, including atrial septal defect, ventricular septal defect ... You may have an inguinal or umbilical hernia, urogenital system abnormality, malformed kidneys, or latent testicles (testicles not entering the scrotum) .

Forms of diagnosis of the disease

The diagnosis of Edward's syndrome or not is determined based on characteristic physical anomalies in the child's appearance. Physical examination in the newborn will reveal the fingers of an arc or shortened sternum. In addition, the doctor can take a blood sample from the baby to check the chromosomes and make an accurate diagnosis.

Edward syndrome (trisomy 18) is a form of illness that can be found before a baby is born. Types of tests will include analysis or screening of fetal serum proteins in maternal serum, amniocentesis, ultrasound and placenta biopsy . An unborn baby with this syndrome can make a mother's uterus unusually large because the amount of amniotic fluid will be more than needed. In addition, a small placenta has also been reported during childbirth.

What is the cure for Edward's syndrome?

Currently, science has not found a cure for Edward's syndrome. Children with this syndrome often have physical abnormalities and doctors face difficult choices regarding treatment. Surgery can treat a number of problems associated with the syndrome. However, invasive procedures may not be best for babies born only a few days or weeks.

Approximately 5–10% of children with Edward's syndrome (trisomy 18) who survive after first year will need appropriate treatments to treat the various effects associated with the syndrome. Problems related to nervous system abnormalities, affecting the development of motor skills in infants, can lead to scoliosis and squint. Surgical interventions may be limited due to a child's cardiovascular health.

Children with Edward's syndrome can experience constipation due to poor abdominal muscle tone, which will last a lifetime. Therefore, you must pay more attention in your child's diet. In order to improve the situation, the doctor will recommend special milk, laxatives, stool softeners, etc. Anal enemas are not recommended because they can deplete the child's electrolytes and change the Fluid composition in the body.

Edward's patient syndrome also exhibits severe mental retardation. However, with early intervention through special education and therapy programs, certain developmental milestones may be achieved.

Babies also appear to be at an increased risk of developing Wilms' tumor , a form of kidney cancer that mostly affects children. If your baby has Edward's syndrome, you should take him for a checkup and periodic ultrasound of the abdomen. In addition, young children also need treatment for a number of problems such as:

Epileptic

Pneumonia

Disability in the legs

Sinusitis

Spine spines

Cerebral effusion

High blood pressure

Ear infection

Eye infections

Congenital heart disease

Sleep apnea

Urinary tract infections

Pulmonary hypertension.

Hopefully the above article helped you understand what Edward syndrome is. If your baby is diagnosed with Edward's syndrome during pregnancy, your doctor may discuss options with you: Continuing the pregnancy or suspending the pregnancy as this is a serious health condition. But no matter what, consider the positive things that will happen and make the best decision for you.