Content
Edwards Syndrome, also known as trisomy 18, is a very rare genetic disease that causes delays in the development of the fetus, resulting in spontaneous abortion or severe birth defects such as microcephaly and heart problems, which cannot be corrected and, therefore, , lower the baby's life expectancy.
Generally, Edwards' Syndrome is more frequent in pregnancies in which the pregnant woman is over 35 years old. Thus, if a woman becomes pregnant after 35 years of age, it is very important to have a more regular pregnancy follow-up with an obstetrician, to identify possible problems early.
Unfortunately, Edwards' syndrome has no cure and, therefore, the baby born with this syndrome has low life expectancy, with less than 10% being able to survive until 1 year after birth.
What causes this syndrome
Edwards' syndrome is caused by the appearance of 3 copies of chromosome 18, and there are usually only 2 copies of each chromosome. This change happens at random and, therefore, it is unusual for the case to repeat itself within the same family.
Because it is a completely random genetic disorder, Edwards Syndrome is nothing more than parents to children. Although it is more common in children of women who become pregnant over 35, the disease can occur at any age.
Main features of the syndrome
Children who are born with Edwards syndrome generally have characteristics such as:
- Small and narrow head;
- Small mouth and jaw;
- Long fingers and poorly developed thumb;
- Rounded sole feet;
- Cleft palate;
- Kidney problems, such as polycystic, ectopic or hypoplastic kidneys, renal agenesis, hydronephrosis, hydroureter or duplication of the ureters;
- Heart diseases, such as defects in the ventricular septum and ductus arteriosus or polyvalvular disease;
- Mental disability;
- Breathing problems, due to structural changes or absence of one of the lungs;
- Suction difficulty;
- Weak crying;
- Low weight at birth;
- Cerebral changes like cerebral cyst, hydrocephalus, anencephaly;
- Facial paralysis.
The doctor may be suspicious of Edward's Syndrome 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 trimester of pregnancy.
In addition, fetal echocardiography, performed at 20 weeks of gestation, may show cardiac impairments, which are present in 100% of Edwards syndrome cases.
How to confirm the diagnosis
The diagnosis of Edwards syndrome is usually made during pregnancy when the doctor observes the changes indicated above. To confirm the diagnosis, other more invasive tests can be performed, such as chorionic villus puncture and amniocentesis.
How the treatment is done
There is no specific treatment for Edwards' Syndrome, however, the doctor may recommend medication or surgery to treat some problems that threaten the baby's life in the first weeks of life.
Generally the baby is in fragile health and needs specific care most of the time, so he may need to be admitted to the hospital to receive adequate 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 of life or the possibility of developing serious psychological problems for the mother during pregnancy.