Edward’s Syndrome Definition, Reason, Symptoms, Treatment & Prevention
Definition
Edward’s syndrome is a type of genetic disorder, which is caused by an abnormality on chromosome 18.
In the human body, there are normally 23 pairs of chromosomes. Or a total of 46 because each chromosome consists of two copies. But in people with Edward’s syndrome, chromosome 18 has an extra copy, so there are three copies (trisomy 18). The abnormality of chromosome 18 causes multiple defects.
Edward’s syndrome is the second most common disorder found in the world after Down’s syndrome. It is estimated that one in 6,000-8,000 live births has Edward’s syndrome.
Edward’s Syndrome Symptoms
Babies with Edward’s syndrome generally often experience breathing problems (breathing often stops for a long time), difficulty breastfeeding, and experience slower growth compared to babies of their age.
In addition, interference with various organs can occur, such as:
- Nervous disorders
Can be mental retardation, muscle weakness, smaller than normal head size (microcephaly), absence of the skull bones that cover the brain (anencephaly), and hydrocephalus (too much cerebrospinal fluid). - Eyes
The size of the eye is smaller or larger than normal, the folds of the eyelids are not clearly visible, cataracts, cloudy cornea. - Bones
Growth in height is slower than children of their age, hand and foot deformities, thumbs are often not formed, toes are bent toward the soles of the feet, and the size of the pelvis is narrow or small. - Heart and lungs
In most cases of Edward’s syndrome, cardiac abnormalities occur. However, the most common is congenital heart disease in the form of a ventricular septal defect (VSD), which is a leak in the septum that separates the left heart and the right heart. In addition, lung disorders can also occur, in the form of hypoplasia (lungs are not formed properly). - Gastrointestinal tract
Abnormalities of the gastrointestinal tract that can occur include omphalocele (the abdominal wall does not close completely so that the intestines spill out), malrotation of the intestine (twisting of the intestine and causing blockage of the digestive tract), umbilical hernia (a disorder of the muscles in the stomach area which causes a bulge to appear intestine around the navel). - Urinary tract Urinary tract
abnormalities can be in the form of kidney cysts, the kidneys are not formed (agenesis), or the presence of hydronephrosis (accumulation of fluid in the kidneys).
Edward’s Syndrome Reason
Edward’s syndrome occurs as a result of trisomy 18 or the presence of an excess number of chromosome 18, which should only be a pair increases to 3 copies of chromosomes. This disease was discovered by Edward and Smith, therefore it is called Edward’s syndrome.
Until now, the cause of the excess chromosome 18 is not known clearly. However, the higher the mother’s age during pregnancy, the higher the possibility of conceiving a fetus with Edward’s syndrome.
In addition, pregnant women who experience the following difficulties during pregnancy are more likely to give birth to a child with Edward’s syndrome:
- Polyhydramnios, which is a condition where there is too much amniotic fluid (> 2 liters).
- The size of the placenta is too small
- Only one umbilical artery
- The growth of the fetus in the womb is stunted
- Fetal movement in the womb is less active
Diagnosis
The existence of Edward’s syndrome can be known when the fetus is still in the womb, or it can also be known when the baby is born. During pregnancy, trisomy 18 or Edward’s syndrome can be detected from the first trimester by examining the hormone human chorionic gonadotrophin (HCG) and estriol. If the levels of these two hormones are low, the possibility of the fetus experiencing Edward’s syndrome is quite large.
In addition, if an abnormality of the internal organs of the fetus is found (such as an abnormality in the brain or heart) through an ultrasound examination, this also increases the suspicion of Edward’s syndrome. Furthermore, to confirm whether there is Edward’s syndrome, amniocentesis can be taken in the second or third trimester of pregnancy.
If the baby is born, a test to confirm the presence of Edward’s syndrome is done by taking a sample of the baby’s blood. and perform a karyotyping examination of the blood.
Edward’s Syndrome Treatment
Edward’s syndrome is incurable. What can be done is to carry out supportive treatment so that sufferers of Edward’s syndrome can live as well as possible.
Babies with Edward’s syndrome should be born in a health facility that has complete newborn care facilities and is handled by a pediatric perinatologist. Babies with Edward’s syndrome are prone to infections, such as lung infections, urinary tract infections, and ear infections. Treatment is carried out by giving appropriate antibiotics according to the bacteria that cause the infection.
If the baby has difficulty breastfeeding, milk and food are given through a nasogastric tube, which is a tube that is inserted from the nose to the stomach.
Special handling must be done on the heart because most sufferers have heart defects. Congenital heart disease that is experienced often has to be treated with surgery.
Prevention
Until now there is nothing that can be done to prevent Edward’s syndrome.