Edwards Syndrome

Edwards syndrome( trisomy of 18 chromosome pairs) - the second most common chromosomal disorder after Down's syndrome, which is characterized by multiple malformations of fetal development, and underdevelopment of many systems and organs. The incidence of Edwards syndrome is 1: 5000/7000, with boys ill about three times less often than girls.

Due to numerous malformations, there is an early mortality of children with this pathology. Even though children with Edwards syndrome are born on time, they have low motor activity and a significantly reduced body weight. Children with this syndrome have almost no physical and mental development, as a result of which boys with this pathology die in most cases during the first ten days after birth;girls can live up to six months( sometimes up to a year)

Edwards Syndrome symptoms and signs

- Low body weight( an average of 2170 grams) at birth

- Significant delay physical and mental development

- Due to the difficulty in swallowing are observed feeding problems

- Specific for Edwards syndrome appearance: flattened laterally deformed skull, elongated head and a low forehead( sometimes hydrocephaly or microcephaly), curved shape of the nose, small lower jaw and ro, Malformed low-set ears, short sternum, narrow little eyes, deformed limbs

- Quite often observed malformations of major blood vessels and heart muscle

- In girls, there is hypertrophy of the clitoris, and the boys penis structural anomaly or undescended testes in the scrotum

- From theKidney there are obvious signs of hydronephrosis

- From the gastrointestinal tract there is an infection of the excretory ducts of the bile ducts and gallbladder, the infection of the lumen of the esophagus, ncomplete turn loops of bowel, intestinal diverticulum gryzhepodobnoe

Edwards Syndrome diagnosis

diagnosis of this syndrome is to conduct a chromosome test. During the course of pregnancy, even though the ultrasound of the fetus is carried out throughout the entire period of gestation, the diagnosis of Edwards syndrome is most difficult. These ultrasound studies suggest only indirect signs, which may eventually lead to a syndrome Edwards( hypoplasia or absence of the navel channel umbilical artery, the small value of the placenta).In the first three months of pregnancy, with the help of ultrasound, it is impossible to detect gross anomalies of fetal development, which indicate the presence of Edwards syndrome. Therefore, due to the constrained diagnosis of this defect, the issue of abortion in the state for this term almost never occurs and women to bear and give birth to children with a syndrome of Edwards in due time

Edwards Syndrome treatment

Today ways to correct chromosomal abnormalities do not exist, so due to the presenceNumerous malformations of physical and mental development, most children( more than 90%) die in the first year of life, and about 30% during the first month. Units of survivors, throughout their rather short lives will suffer from numerous physical illnesses and deep mental retardation.