Down syndrome comprehensive screening

Down syndrome is trisomy 21, also known as congenital idiocy or Down syndrome. Down syndrome is also known as "congenital idiocy" or "trisomy 21", which specifically refers to the change of the normal 2 sex chromosomes 21 to 3. It is a congenital chromosomal abnormality caused by multiple genetic mutations. It is one of the birth defects with the highest incidence in my country. 60% of patients miscarry in the early stages of pregnancy, and most of the survivors suffer from severe intellectual disabilities and other problems, such as congenital heart disease, sepsis, digestive malformations, etc. They are unable to be independent in food, clothing, housing and transportation, and their life span is short. The average survival age is only 20-30 years old, and the IQ is generally between 20-50. The main symptoms of Down syndrome are:

1. The patient has distinctive clinical symptoms of unique appearance, such as wide-set eyes, low nasal bridge, small palpebral fissures, upslanted eyes, excess skin at the corners of the eyes, small external auditory canals, fat tongue that often sticks out of the mouth, and excessive drooling. The baby is short, with a head circumference lower than normal, short front and back diameters, and a flat back of the head. The neck is short and the skin is relatively loose. Bone age measurement often lags behind chronological age, and tooth eruption is delayed and often shifted. The hair is soft and less. If the anterior fontanelle closes late, a third fontanelle may appear on the center line of the parietal occipital. The limbs are short. Due to loose ligaments, the joints can bend excessively. The fingers are short and thick. The middle segment of the little finger is underdeveloped, causing the little finger to bend inward. The phalanges are short, and the trident of the palm moves distally. Palm lines and numb feet are common. More than half of the patients have arched skin lines on the ball of the big toe.

2. They often feel sleepy and have difficulty in feeding. Their low intelligence becomes more obvious with age, with an IQ of 25 to 50, and their physical and sexual development are delayed.

3. Male babies with Down syndrome will not have reproductive functions when they grow up and reach puberty. Female babies born with Down syndrome will have menstrual periods when they grow up and may become pregnant.

4. Patients often have congenital heart disease and other malformations. Due to low immune function, they are susceptible to various infections, and the incidence of sepsis is 10 to 30 times higher than normal. If they survive into adulthood, they often develop symptoms of Alzheimer's disease after age 30.

What does Down syndrome screening do?

Down syndrome screening is the most common item in prenatal check-ups. It can not only prevent the birth of babies with congenital defects, but also determine whether there are congenital defects.

In China, a patient with Down syndrome (Down syndrome is also known as congenital idiocy, which is the result of chromosomal abnormalities) is born every 20 minutes, and a baby with congenital defects is born every 2 seconds, mainly with deformities, congenital heart disease, hearing and vision impairments, and sepsis. The bleeding of random defects not only brings pain to the family, but also creates a huge financial burden on society.

Therefore, prenatal diagnosis of Down syndrome during pregnancy must be strictly followed. Generally speaking, the 15th to 20th week of pregnancy is the best time for Down syndrome screening.