Edwards Syndrome (Trisomy syndrome on chromosome 18): causes, symptoms, diagnosis, treatment

Edwards' syndrome (trisomy 18, trisomy on the 18th chromosome) is caused by an extra 18th chromosome and usually includes low intelligence, low birth weight and multiple malformations, including pronounced microcephaly, protruding occiput, low-set abnormally formed ears and characteristic features of the face.

Trisomy on the 18th chromosome is recorded at a frequency of 1/6000 live births, but spontaneous abortions are common. More than 95% of children have full trisomy on the 18th chromosome. Excess chromosome almost always gets to the child from the mother, with the age of the mother the risk increases. The ratio of girls to boys is 3: 1.

[1], [2], [3], [4]

Causes of the edwards syndrome (chromosome 18 trisomy syndrome)

What causes Edwards syndrome?

Children with Edwards syndrome are more likely to be born in women older than 35 years. The probability of re-birth of a child with trisomy 18 in families does not exceed 1%, which is not a contraindication for repeated childbirth.

Symptoms of the edwards syndrome (chromosome 18 trisomy syndrome)

Symptoms of Edwards Syndrome

Often the pregnancy history includes a weak motor activity of the fetus, polyhydramnios, a small placenta and a single umbilical artery. The child is born small by the time of gestation, with hypotension and severe hypoplasia of skeletal muscles and low content of subcutaneous fat. The cry is weak, the response to sounds is reduced. The edges of the orbit are hypoplastic, the eye slits are short, the mouth and jaw are small - all this gives the face a narrowed (pointed) appearance. Often observed microcephaly, protruding occiput, low-lying irregularly formed ears, narrow pelvis, short sternum. Often there is a characteristic brush - clenched into a fist with an index finger located above the third and fourth fingers. The distal crease on the little finger is often absent, the number of arches on the fingertips is reduced. Noggies on the arms are hypoplastic, the big toe is shortened and often is in the state of rear bending. Frequently marked clubfoot and foot-rocking. Often develop serious congenital heart defects, especially the open arterial duct and defects of the interventricular septum, there are malformations of the lungs, diaphragm, gastrointestinal tract, abdominal wall, kidneys and ureters. Hernias and / or diastasis of the rectus abdominis muscle, cryptorchidism and excess skin forming folds (especially along the posterior surface of the neck) are also observed frequently.

Edwards syndrome, or trisomy on chromosome 18, is characterized by a combination of intrauterine retardation of physical development and polyhydramnios. From congenital malformations, defects of the neural tube (spinal hernia, congenital hydrocephalus) and reduction limb defects are more frequent. Specific facial phenotype with small facial features (short eye cracks, microstomy, microgenia) and elongated auricles. Characteristic dermatoglyphics (the presence of 5 or more arcs at the fingertips of the hand). Patients with the diagnosis of "Edwards syndrome" are noted for deep mental retardation and high lethality - no more than 10% of children survive to 1 year.

Diagnostics of the edwards syndrome (chromosome 18 trisomy syndrome)

Diagnosis of Edwards Syndrome

The diagnosis can be presumed prenatally for developmental defects, diagnosed with ultrasound of the fetus, or screening for the mother, as well as postnatally according to the characteristic appearance. Confirmation in both cases is conducted in the study of the karyotype. Karyotyping should also be carried out in the presence of intrauterine growth retardation, multiple congenital malformations and the corresponding results of a screening examination of the mother.

[5], [6], [7], [8], [9], [10]

Forecast

What is the prognosis of Edwards syndrome?

More than 50% of children die within the first week; less than 10% live up to one year. At the same time, there is a marked delay in development. Edwards' syndrome does not have specific treatment.