Symptoms of Down syndrome after birth

Down syndrome babies, also known as congenitally retarded babies, are also called Down babies by many people. This is a general term for babies with Down syndrome. It is the most common form of human chromosomal disorder and the most common cause of mental retardation. The incidence rate of live births is approximately 1/800-1/600, which is closely related to the mother's gestational age. The probability of giving birth to such a child is 1 in 2,000 for a mother under 25, 1 in 300 for a mother aged 35, and 1 in 40 for a mother aged 44 and above.

The patient has severe mental retardation, a small and round head, a flat nose, small and upward slanting palpebral fissures, wide eyes, half-open mouth, tongue that often sticks out of the mouth, low ears (the upper edges of the ears are below the horizontal line of the eyes); short and thick neck, short fingers and toes, inward-curved fingers, a single fold on the little finger that runs through the hand; a proximal arch pattern on the ball of the big toe, and the distance between the big toe and the second toe widens to resemble a "straw foot". It is often accompanied by deformities of the reproductive organs, heart, digestive tract, and bones; low immunity, and the incidence of acute leukemia is about 20 times higher than that of ordinary children.

Most babies with Down syndrome have short and small heads, flat and wide faces, low and small ears, collapsed noses, enlarged tongues, poor muscle tone throughout the body, and inelastic skin. About one-third of patients have heart defects, and the proportion of gastrointestinal malformations is also higher than that of normal babies. The most obvious manifestation is intellectual disability, with an IQ between 20-80, most commonly between 45-55. They are also more susceptible to infection, have poor resistance, are shorter, have delayed sexual development, and are more likely to get leukemia and hypothyroidism. The average life expectancy of patients is between 43-55 years.

Accidental occurrence rate: Among all chromosomal diseases in newborns, Down syndrome accounts for about 95%. Down syndrome occurs randomly, without any prior signs or obvious family history. Even healthy couples may give birth to a child with Down syndrome. Moreover, pregnant women of all ages have the chance of giving birth to a baby with Down syndrome. Statistics show that 20% of Down syndrome children are born to pregnant women over 35 years old; 80% of Down syndrome children are born to pregnant women under 35 years old.

Genetic probability: The probability of inheriting Down syndrome is 1%, of which 88% comes from the mother and only 3% comes from the father.

The Hong Kong PRENETICS test detects whether the fetus has 16 chromosomal disorders such as Down syndrome, Addams syndrome and Patau syndrome through the genes released by the fetus in the blood sample of the tested pregnant woman. The Hong Kong PRENETICS test avoids the risks of invasive tests such as chorionic villus sampling or amniocentesis (commonly known as amniotic fluid extraction). Pregnant women only need to go to the clinic to draw a blood sample for testing when they are 10 weeks pregnant. The report results will be available within 5-7 working days.

"Children with Down syndrome" are caused by an abnormal number of chromosomes carrying genetic genes. It occurs accidentally and randomly. Every healthy couple cannot rule out this potential risk. It occurs without any signs, family history, or clear history of exposure to poisons. "Down syndrome babies" may suffer from neonatal asphyxia or death during delivery; in infancy, they cannot drink milk and are prone to respiratory infections and die from high fever. Even if they survive, they usually have congenital intellectual disabilities and are often accompanied by congenital heart disease, microcephaly, cleft lip, cleft palate, anus and other congenital malformations. There is currently no effective treatment for this disease.