Table of contents:
- What causes Edwards syndrome
- Main features of the syndrome
- How to confirm the diagnosis
- How the treatment is done
Edwards Syndrome, also known as trisomy 18, is a very rare genetic disorder that causes delays in the development of the fetus, resulting in miscarriage or serious birth defects such as microcephaly and heart problems, which cannot be corrected. and that, therefore, lower the life expectancy of the baby.
Usually, Edwards Syndrome is more common in pregnancies in which the pregnant woman is over 35 years old. Thus, if a woman becomes pregnant after the age of 35, it is very important to follow up the pregnancy more regularly with the obstetrician, to identify possible problems early.
Unfortunately, Edwards syndrome has no cure and, therefore, babies born with this syndrome have a low life expectancy, with less than 10% surviving up to 1 year after birth.
What causes Edwards syndrome
Edwards syndrome is caused by the appearance of 3 copies of chromosome 18, and normally there are only 2 copies of each chromosome. This change happens randomly and, therefore, it is uncommon for the case to be repeated within the same family.
Because it is a completely random genetic alteration, Edwards Syndrome does not pass from parents to children. Although it is more common in children of women who become pregnant over age 35, the syndrome can affect pregnancies in women of any age.
Main features of the syndrome
Children born with Edwards syndrome often have characteristics such as:
- Small, narrow-shaped head;
- Small mouth and jaw;
- Long fingers and poorly developed thumb;
- Feet with round soles;
- Cleft palate;
- Kidney problems such as polycystic, ectopic, or hypoplastic kidneys, renal agenesis, hydronephrosis, hydroureter, or duplication of ureters;
- Heart diseases, such as ventricular septal and ductus arteriosus defects or polyvalvular disease;
- Mental disability;
- Breathing problems, due to structural changes or absence of one of the lungs;
- Suction difficulty;
- Weak cry;
- Low birth weight;
- Brain changes such as brain cyst, hydrocephalus, anencephaly;
- Facial paralysis.
The doctor may suspect Edward's Syndrome even during pregnancy, through ultrasound and blood tests that evaluate human chorionic gonadotropin, alpha-fetoprotein and unconjugated estriol in maternal serum in the 1st and 2nd trimesters of pregnancy.
Furthermore, fetal echocardiography performed at 20 weeks' gestation may show cardiac involvement, which is present in 100% of cases of Edwards syndrome.
How to confirm the diagnosis
The diagnosis of Edwards syndrome is usually made during pregnancy when the doctor observes the alterations indicated above. To confirm the diagnosis, other more invasive tests such as chorionic villus puncture and amniocentesis can be performed.
How the treatment is done
There is no specific treatment for Edwards Syndrome, however, your doctor may recommend medication or surgery to treat some conditions that threaten your baby's life in the first few weeks of life.
Usually the baby has fragile he alth and needs specific care most of the time, and therefore may need to stay in the hospital to receive the appropriate treatment, without suffering.
In Brazil, after the diagnosis, the pregnant woman can make the decision to perform an abortion, if the doctor identifies that there is a risk to life or the possibility of developing serious psychological problems for the mother during pregnancy.