What should you pay attention to when doing Down syndrome screening?

What is Down syndrome? Even if you have not seen it in real life, many people can learn some information about Down syndrome from TV. The so-called Down syndrome is a chromosomal disease that is highly prevalent in newborns. The main symptoms include facial deformities, growth and development disorders, mental retardation, and low immunity. For this reason, babies with Down syndrome need to undergo regular checkups, and some issues need to be noted during the checkup process.

Down syndrome is a torture for infants and young children, so as relatives of Down syndrome patients, we should try our best to help them alleviate their condition and prolong their lives. Therefore, it is necessary to take children with Down syndrome to the hospital for regular check-ups, and also to understand clearly what to pay attention to when doing Down syndrome screening.

Down syndrome is also known as trisomy 21

Down syndrome, also known as congenital idiocy or Down syndrome, is the earliest chromosomal disease to be identified. 60% of affected children die or are aborted in the early fetus, and the survivors have obvious mental retardation, special facial features, growth and development disorders and multiple malformations.

The children have obvious special facial features at birth, and often show drowsiness and feeding difficulties. Their mental retardation becomes increasingly obvious with age, with an IQ of about 25 to 50. Their motor development and sexual development are delayed. The children have wide eyes, low nasal root, small palpebral fissure, upward slanting eyes, epicanthus, small external ears, fat tongue that often sticks out of the mouth, drooling, short stature, smaller head circumference than normal, short front and back diameters of the head, flat occipital head, short neck, loose skin, bone age often lags behind age, delayed and often misplaced teeth, soft and less hair, mostly centered hair whorls, late closure of the anterior fontanelle, a third fontanelle in the midline of the occipital, short limbs, excessive bending of joints due to ligament laxity, thick and short fingers, poor development of the middle phalanx of the little finger causing the little finger to bend inward, short phalanges, distal displacement of the trifurcation of the palm, common through-palm lines, straw sandal feet,

About half of the children have arched dermatoglyphics on the ball of the big toe.

Children with this syndrome often have other malformations such as congenital heart disease. Due to their low immune function, they are susceptible to various infections. The incidence of leukemia is 10 to 30 times higher than the normal rate. If they survive to adulthood, they often develop symptoms of senile dementia after the age of 30, which is the main feature of Down syndrome.

Although the disease's special facial features, hand characteristics and mental retardation can provide important clues for clinical diagnosis, the establishment of the diagnosis must rely on chromosome karyotype analysis. Therefore, chromosome karyotype analysis and FISH technology are the main laboratory examination techniques for Down syndrome. These two examinations also have positive significance for the prognosis estimation of mosaic Down syndrome. Due to the great difference in the phenotypes of children with mosaic malformations, which can range from normal or near-normal to typical clinical manifestations, their prognosis mainly depends on the percentage of normal cell lines in the children's somatic cells. Therefore, understanding the ratio of normal karyotype cells to 21-trisomy karyotype cells in the somatic cells of mosaic children can guide the children's families and society to educate them according to their specific circumstances.

What should you pay attention to when doing Down syndrome screening?

1. Screening time: The best time is between 15 and 20 weeks of pregnancy.

2. Screening method: A combined serological method is often used to screen for Down syndrome. Peripheral blood is drawn from the pregnant woman, and serum is extracted (without fasting). The concentrations of alpha-fetoprotein (AFP) and serum chorionic gonadotropin (HCG) in the mother's serum are tested. The "risk factor" is calculated based on the pregnant woman's due date, age, gestational age and weight at the time of blood drawing. This can detect 80% of congenitally mentally retarded children. This test can also detect high-risk pregnant women for neural tube defects, trisomy 18 and trisomy 13. If the serum test is positive, amniotic fluid test is also needed to confirm the diagnosis.

3. Price: About 100 yuan, but the standards of each hospital are different.

4. Preparation before the examination: There is no need to fast for Down syndrome screening, but it is related to the menstrual cycle, weight, height, accurate gestational age, and fetal age. It is best to consult a doctor for other preparations before the examination.

What should you pay attention to when doing Down syndrome screening? I hope this detailed introduction to the precautions for Down syndrome screening will be helpful to everyone. So, for families whose children unfortunately suffer from Down syndrome chromosomal disease, the first thing we are advised to do is not to be discouraged, and certainly not to give up easily. With the rapid development of medical technology, I believe that the medical community will be able to cure children with Down syndrome in the future.