Before you want to know what Down syndrome is, we must first understand what Down syndrome is. Down syndrome, also known as trisomy syndrome, is a disease caused by the 21st pair of chromosomes in the human body (with an additional 21 chromosome ). 60% of the fetus suffering from this disease aborted in the early stages of the fetus. After birth, survivors are obviously mentally behind normal children, with slow growth or development disorders, special face and multiple deformities.
What are the clinical manifestations of Down syndrome in children?
1. Children with patients have obvious special facial signs, including: small and round head, wide distance of eyes, small fissures of the eyes, obliquely on the outer corners of the eyes, medial canthus skin, low and flat nose bridge, small external ear , narrow hard palate, often extending outside the outlet, and more salivation. Short stature, lagging bone age, late teething and often misaligned. The limbs are short, the ligaments are loose, and the joints of the limbs can be excessively bent. The fingers are thick and short, and the little fingers are bent inward.
2. Children often experience drowsiness and feeding difficulties. Their low intelligence performance gradually becomes obvious with age. The IQ is between 25 and 50. The abstract thinking ability is most damaged, and all movement and sexual development are delayed. When male Down babies grow up until adolescence, they will not have fertility, while female Down babies will have menstruation after they grow up and may have fertility.
3. The average age for children to start learning to speak is as late as 4-6 years old, 95% have pronunciation defects, low voice, and vague speech; the incidence of stuttering is high, and more than 1/3 of them have abnormal phonological rhythms, and even pronunciation is explosive. Under the influence of intelligence and verbal expression, it will also cause some obstacles to their social development.
4. Children are often accompanied by other malformations such as congenital heart disease. Due to low immune function, they are prone to various infections. The incidence of leukemia is 10 to 30 times higher than that of general. If you survive until adulthood, you often experience senile dementia symptoms after the age of 30.
Down syndrome people have one more chromosome than ordinary people, causing different forms of life. This is an accident in the process of replication of life. There is currently no effective treatment method. The best method is to terminate the pregnancy before the pregnant mother gives birth.
What is the significance of Down’s screening?
Down's screening is the abbreviation of "Down's syndrome prenatal screening test". The probability of suffering from Down's syndrome among pregnant mothers under 35 years old is 1/750. According to the examination time, it can be divided into 10-14 weeks of early pregnancy and 15-20 weeks of second pregnancy. The purpose is to test the blood of pregnant mothers, detect the concentration of type A fetal protein, villous gonadotropin and free estriol in the mother's serum, and combine other clinical information such as the age, weight, and pregnancy week to comprehensively determine the risk factor of the fetus suffering from Down's disease . If the results of the Tang screening test show that the fetus is at a higher risk of Down's syndrome, further confirmed examinations - amniocentesis or villi examination.
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