Edwards syndrome, also known as trisomy 18, is a very rare genetic disease that causes delays in the development of the fetus, resulting in serious malformations such as microcephaly and heart problems, which cannot be corrected and, therefore, there is a low expectation of life.
Generally, Edwards' Syndrome is more frequent in pregnancies in which the pregnant woman is over 35 years old. Thus, the best way to try to prevent the onset of this syndrome is to get pregnant before that age.
Edwards Syndrome has no cure and, therefore, the baby born with this syndrome has low life expectancy, because normally less than 10% manage to survive until 1 year after birth.
Main features of Edwards Syndrome
Some of the characteristics of Edwards Syndrome are:
- Small and narrow head; Mouth and small jaw; Long toes and poorly developed thumb; Feet with rounded sole; Cleft palate; Kidney problems, such as polycystic, ectopic or hypoplastic kidneys, renal agenesis, hydronephrosis, hydroureter or duplication of the ureters; Heart diseases, such as ventricular septal defects and ductus arteriosus or polyvalvular disease; Mental deficiency; Breathing problems, due to structural changes or absence of one of the lungs; Difficulty sucking; Weak crying; Low birth weight;, hydrocephalus, anencephaly; Facial paralysis.
Generally, the doctor is suspicious of Edward's Syndrome by ultrasound, where the nuchal translucency can be measured, but blood tests are also carried out to evaluate human chorionic gonadotrophin, alpha-fetoprotein and unconjugated estriol in maternal serum in the 1st and 2nd trimester of pregnancy. Tests that can confirm the syndrome are chorionic villus puncture and amniocentesis.
Fetal echocardiography, performed at 20 weeks of gestation, can show cardiac impairments, which are present in 100% of the cases of this syndrome and, therefore, it is considered as the primary exam for the diagnosis of this syndrome after 18 weeks of gestation.
How is Edwards Syndrome treated
There is no specific treatment for Edwards' Syndrome, however, the doctor may recommend medication or surgery to treat some life-threatening problems in the first few 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 go to court and ask for 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.
What causes this syndrome
This 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.
