Diagnosis: Edwards Syndrome

Edwards Syndrome, ES (Trisomy 18) is a congenital genetic disorder of the child that occurs during cell division — during meiotic division (in the division of reproductive cells), when chromosomes fail to separate properly (meiotic nondisjunction). As a result, there is an extra copy of chromosome 18 in the cells (trisomy). Chromosome 18 is responsible for the growth and development of organs, which in this case is disrupted. This syndrome was first described by John H. Edwards in 1960, after whom the condition is also named. ES is among the most common congenital disorders caused by numerical chromosomal abnormalities, second only to Down syndrome.

ES presents with a wide range of symptoms, from mild to severe. Every child is unique, and it is impossible to predict the exact prognosis. Everything depends on the extent of organ involvement. ES is classified into complete, partial, and mosaic forms. The prognosis for children with Edwards syndrome is often poor; heart anomalies are frequently present and may be incompatible with life, causing many children to die before or shortly after birth. Approximately 13 out of 100 (other sources report 5–10%) live-born infants with ES survive to their first year of life. The most common cause of death is a severe congenital heart defect. Statistically, survival is better in girls than in boys.

Forms of Edwards Syndrome (Trisomy 18)

Complete form of ES
The complete form of ES is a condition in which every cell of the fetus contains an extra chromosome 18. This type of ES is practically incompatible with life. It typically leads to spontaneous miscarriage of the fetus.

Mosaic form of ES
About 1 in 20 children with ES has the mosaic form. In this form, only a portion of the child’s cells contains the extra chromosome 18, while the remaining cells have normal genetic information without trisomy 18. The child’s survival and the severity of additional complications depend on the percentage of affected cells.

Partial form of ES
In this type, the cells do not have a complete extra chromosome 18; instead, only a part of chromosome 18 is present in addition. This type occurs in about 1 out of 100 children with ES. The clinical condition and the severity of heart defects and abnormalities of other organs depend on the size of the part of chromosome 18.

Statistically, these children survive longer than 1 year of life, and a small percentage of them reach adulthood.

Symptoms:

Each child is unique; it is not possible to determine the severity of the syndrome, which varies according to the seriousness of the congenital anomalies. After birth, each child typically has low birth weight, delayed psychomotor development of varying degrees, various heart defects associated with breathing difficulties, and esophageal atresia (a blind‑ending esophagus that does not communicate with the stomach).

Diagnosis:

In the first trimester of pregnancy, screening for the most common developmental and genetic disorders is carried out, which also assesses the probability of ES (the triple test). If ES is suspected, further examinations are performed, including detailed ultrasound focusing on heart defects — prenatal echocardiography — and ultrasound of other internal organs. If suspicion persists, amniocentesis or chorionic villus sampling is performed. However, it is not possible to estimate the degree of impairment, the likelihood of survival, or the expected lifespan.

Edwards syndrome occurs with a frequency of 1 in 3,000 conceptions and 1 in 6,000 live births. Approximately 50% of cases are diagnosed during pregnancy. The risk of this syndrome increases with maternal age. However, it is not impossible for the disorder to be diagnosed in children of mothers aged 20 to 30 years.

After the child is born, a full range of examinations is performed — especially cardiological evaluation to assess the presence and severity of congenital heart defects, ultrasound examinations of internal organs, nephrological ultrasound with focus on the kidneys, etc.

The occurrence of ES in a family does not increase the likelihood of ES appearing again in the family or in the same couple. The cell‑division error responsible for ES arises randomly.

Treatment:

The prognosis depends on the development of complications, cardiological problems, other defects, and overall thriving. The overall treatment depends on the child’s general condition and the severity of cardiac anomalies. Therapy is surgical, depending on the presence of esophageal atresia or severe congenital heart defects. There is a high likelihood that tube feeding will be necessary due to difficulties with food intake and poor weight gain. Later, due to delayed psychomotor development, it is appropriate to add rehabilitative therapy.

About 10% of children live to their first birthday, and there are individuals (mostly girls) who reach an older age (20–30 years), but they require constant care due to delayed psychomotor development and possible other medical complications. They can also participate in society with the help of their parents and assistants. A very important part of therapy is provided by early‑intervention centers, rehabilitative exercises, and social therapists, whose therapies can improve both mental and psychomotor functioning. In cases of poor health, frequent recurrent hospitalizations, and the need for medical support and care, organizations providing care for incurably ill patients, or home nursing care, can help.

Every child has unique special needs and a unique personality. It is not important to think too far ahead, but to enjoy every moment with your child.

Edwards Syndrome

General

Forms of Edwards Syndrome (Trisomy 18)

Symptoms:

Diagnosis:

Treatment:

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