Also known as Trisomy 18, Edwards Syndrome is a genetic disorder in which the fetus has three sets of chromosome 18, whereas the normal count would be only two. This condition causes problems in the baby’s body formation as well as heart deficiencies, and unfortunately, because there is no treatment, it prevents the baby from surviving for long.
Through studies and research, it has been found that the main risk factor for this genetic disease is maternal age. Therefore, most cases occur in pregnancies where the mother is older than 35 years. The diagnosis is made during pregnancy, between the 10th and 14th gestational week, by ultrasound examination, including the nuchal translucency exam, where developmental signs become clear to medical professionals. After the disease is diagnosed, legal action may be taken to authorize an abortion, pointing to the life risks and psychological damage that can be inflicted on the mother, since the baby generally does not survive longer than three months. This decision must be made by the parents, as there is the option of surgical repairs or medications to reduce symptoms and risks in the baby’s first days of life.
There are also cases of children who manage to survive for months or even years with the syndrome and, within their limitations, live well; these cases are rare, but they do exist. Edwards syndrome can present itself in different forms in babies, and this does not mean one type is milder than another. Each type has its own symptoms and ways of presenting. The forms are classified as complete, partial, and mosaic (random) trisomy 18.
Complete trisomy 18: Considered the most common type of the disease, it accounts for about 95% of diagnosed cases, and the extra copy of chromosome 18 is present in nearly all the baby’s body cells.
Partial trisomy 18: Considered a rare type of the disease, partial trisomy occurs when the baby receives only a part of the extra chromosome 18, which is enough for an Edwards syndrome diagnosis. This “half” usually joins another chromosome before or after conception.
Mosaic trisomy 18: Also identified by medicine as a rare form of the disease and known as “mosaic,” in this case the extra chromosome 18 is found only in some of the baby’s body cells. The joining of these chromosomes happens randomly during cell division.
Symptoms of Edwards Syndrome
There are many symptoms that can be found and diagnosed in a baby with Edwards syndrome. Some are more evident and visible to the naked eye, while others are more specific and can only be identified by more complex tests. The most common symptoms are heart and kidney problems, malformation of the baby’s skull and jaw, which are present in almost 100% of cases.
Other physical symptoms observed in babies with Edwards syndrome include ears placed lower than normal, clubfoot with rounded soles, and hand deformities, such as an index finger longer than the other fingers. Poorly formed and ingrown nails, low weight, malformed genitalia, and greater-than-usual spacing of the nipples can also occur. Signs such as muscle rigidity and weakness, growth delay, kidney malformation, septal defects, as well as brain and vertebral anomalies, are other symptoms that may arise throughout the diagnosis and can be assessed by specialized doctors such as geneticists, neurologists, general clinicians, cardiologists, nephrologists, psychiatrists, and psychologists.
The diagnosis is usually made during prenatal care, but there are cases where Edwards syndrome is only discovered after the baby is born. The best way to handle the situation is to talk with specialists and ask any questions about the condition and how to deal with it. Knowing what may happen and the best way to treat and provide better living conditions for the baby is essential. Treatment for each baby is individual and must be tailored to their specific needs, as a medical team will be necessary, each professional specializing in a particular area. Psychological and psychiatric support for parents and close relatives should also not be overlooked!
See Also: Down Syndrome – Types and How to Cope
Photos: Wagner Cezar, Rodrigo Brandão
