The incidence of Edwards syndrome is 1/4000 ~ 1/8000 live-born newborns. A child's life span is very short, more than death shortly after birth. Survivors have severe mental retardation.

1, etiology

From the point of view of chromosome 18 trisomy, it is because chromosomes do not separate during meiosis. In most cases, it is a trisomy of chromosome 18 in all cells, and in a few cases, it is a partial trisomy of chromosome 18 caused by chimera and chromosome breakage.

2. Clinical manifestations

Children are characterized by occipital protrusion, narrow forehead, small head, wide anterior fontanel, low ear with deformity, short eye fissure, small jaw, epicanthus, drooping eyelids, cleft lip or cleft palate. Short neck, excessive neck skin, inguinal hernia or umbilical hernia, tracheoesophageal fistula, biliary atresia. Horseshoe kidney or ectopic kidney, bilateral urethra, hydronephrosis, polycystic kidney. Male genital dysplasia, hypospadias, cryptorchidism, female clitoris. Children's mental retardation, increased muscle tone, hydrocephalus, meningocele, cerebellar dysplasia, corpus callosum dysplasia. Hands clenched, thumb, forefinger and middle finger closed, forefinger pressed against middle finger, pinkie pressed against ring finger, pinkie or all fingers only had 1 stripes, and the thumb was stunted or missing, which ran through the hand. Cradle foot, clubfoot, syndactyly, polydactyly, short sternum and limited hip abduction. Thyroid and adrenal dysplasia, bicornuate uterus, coronary artery malformation, transposition of great arteries, tetralogy of Fallot, etc.

Step 3 deal with

Birth often needs to be revived. Low living ability, frequent apnea, poor sucking and frequent nasal feeding. Despite careful nursing, most of them died in the first two months, and very few children lived to 1 year, all of them were severely mentally retarded.

4. Prevention

For children with chromosome translocation, it is necessary to check their parents' chromosomes to determine whether one of them is a balanced translocation carrier. Such carriers have a greater chance of having children with this syndrome, so prenatal diagnosis is needed.

reference data

Baidu encyclopedia. Baidu Encyclopedia [reference time 20 17- 12-20]