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The process of fetal development may hide various risks, which can lead to some neonatal diseases and abnormalities. Chromosomal abnormalities 1. Down syndrome: There are many types of diseases caused by chromosomal abnormalities, and the most common one is none other than "Down syndrome" (commonly known as "Mongolism"). Infants with Down syndrome have quite distinct external features, making them easily identifiable at a glance. These features include: widely spaced eyes, upwardly slanted outer corners of the eyes, thick folds at the inner corners of the eyes, a mouth that is often open with the tongue sticking out, palm creases that cross the palm, and inwardly curved little fingers that appear to have only two joints. In addition to the external abnormalities, these infants often have congenital heart disease; low muscle tone in infancy that affects motor development; and intellectual disabilities during growth that impact learning. Although there are many negative impacts, there are also positive ones. These Down syndrome infants are very gentle, cheerful, and happy every day. The chromosomes in our body cells total 23 pairs, with two in each pair. When there is an extra chromosome in the 21st pair, making it three instead of two, Down syndrome occurs. Chromosome testing can be done on chorionic villus cells or amniotic fluid cells during pregnancy to detect this condition. If the previous child had Down syndrome or if the mother is an older pregnant woman, the above tests can be performed. Once the fetus is confirmed to have Down syndrome, under the premise of eugenics and health care, artificial abortion can be considered. When it comes to treatment, chromosomal abnormalities are an unchangeable fact. Therefore, what is referred to as treatment is simply managing the defects that arise, such as: surgical correction may be needed for congenital heart disease; and intellectual disabilities may require assistance from special education. "Prevention is better than cure" is especially true for chromosomal abnormalities. 2. Edward syndrome: If there are three chromosomes in the 18th pair, it is called "Edward syndrome." The most characteristic feature externally is the hands: the index finger overlaps the middle finger, and the little finger overlaps the ring finger. Abnormalities in the face, heart, and kidneys are also inevitable. These infants are often born with low birth weight, and 90% of cases die within a year, while those who survive are usually severely intellectually disabled. Therefore, once a definitive diagnosis is made, no active treatment is pursued. 3. Patau syndrome: When there are three chromosomes in the 13th pair, it is called "Patau syndrome." These infants have very severe abnormalities, including cleft lip and palate, underdeveloped forebrain, congenital heart disease, etc. They often do not survive beyond a year, and even if they do, they are severely intellectually disabled, so active treatment is rarely considered. Neural tube defects The brain and spinal cord are the central nervous system of the human body, with a texture similar to tofu, making them very fragile. Therefore, they require a hard shell or armor for protection. The space enclosed by the skull and vertebrae that protects the brain and spinal cord is known as the "neural tube." If the neural tube does not close properly, meaning there are cracks in the skull or vertebrae, it is referred to as a "neural tube defect." A crack in the vertebrae is also known as spina bifida. Spina bifida may show no symptoms and cause no problems throughout life. However, if the spinal cord or spinal meninges protrude through this crack and are exposed, symptoms will appear, which is called a spinal or meningeal hernia. Spinal or meningeal hernias most often occur in the lumbar and sacral regions, and the symptoms include weakness in the lower limbs, inwardly rotated feet, a lack of pain sensation in the lower limb skin, incontinence, and an inability to control urination. In addition to the neurological symptoms, the protruding area is prone to infection, which can lead to meningitis. A crack in the skull, causing brain tissue to move outside the skull, is called a brain hernia. Brain hernias may not necessarily cause symptoms, but it is true that they are easily infected and can lead to meningitis. Once a newborn is found to have a brain hernia or a spinal or meningeal hernia, surgical treatment must be performed as soon as possible. If infection has already occurred, surgery must be delayed until the infection is controlled with medication before proceeding. Surgical treatment is not the end of the matter but the beginning of a new chapter, especially for children with spinal bifida. These children still require long-term rehabilitation after surgery. In addition to lower limb mobility, bladder function training is also essential, as otherwise, it is very easy to develop urinary tract infections, which can further damage the kidneys. Congenital metabolic abnormalities Currently, newborns generally undergo newborn screening to diagnose certain congenital metabolic abnormalities early for timely treatment. There are many types of congenital metabolic abnormalities, and screening only targets the following four: congenital hypothyroidism, phenylketonuria, homocystinuria, and galactosemia. Infants with congenital hypothyroidism have low muscle tone, delayed development, thick tongues that are often half-exposed, and if untreated, they may grow up to be short-statured and intellectually disabled. Treatment is simple: taking a daily dose of thyroid hormone. Infants with phenylketonuria have no distinctive features, but delayed development is inevitable during infancy, and they will eventually exhibit intellectual disabilities. Treatment requires a special diet or specially formulated milk for nutrition, as well as supplementation with certain chemicals or neurotransmitters. Infants with homocystinuria may have no obvious symptoms, but as they grow, symptoms such as lens dislocation, intellectual disabilities, or tall, thin stature may gradually appear. Some cases may also develop stroke-like symptoms due to cerebral vascular occlusion. Treatment involves dietary control, as well as supplementation with folic acid and vitamin B6. Infants with galactosemia may experience vomiting, diarrhea, poor weight gain, cataracts, jaundice, and liver enlargement. Treatment requires dietary control to exclude foods containing galactose. Severe thalassemia Thalassemia is caused by abnormal hemoglobin, which shortens the lifespan of red blood cells and leads to anemia. Mild thalassemia has no symptoms and does not require treatment, and patients can enjoy a life and lifespan similar to that of the general population. Patients with severe thalassemia, in addition to anemia symptoms such as pale skin, poor appetite, poor stamina, and fatigue, may also have an enlarged liver and spleen. They must receive regular blood transfusions and long-term injections of iron chelators; however, blood transfusions only provide temporary relief of symptoms and prolong life. The fundamental treatment relies on bone marrow transplantation. If there is a case of thalassemia in the family, everyone must be tested to determine if they are carriers of thalassemia, which serves as a basis for eugenics and health care. Congenital heart disease The heart's structure is like interconnected rooms, with walls separating them, and each room has its own independent entrance and exit. When there are holes in the walls, it is called a "septal defect" (either atrial or ventricular). When these doors are too narrow, it is called "pulmonary or aortic stenosis." If the doors do not close properly, it is called "valvular insufficiency." All of these are types of congenital heart disease. The symptoms of congenital heart disease can range from mild to severe. Mild cases do not require any treatment, and dietary and activity restrictions are not necessary. Severe cases require dietary and activity restrictions, as well as medication and surgical treatment. Common symptoms include heart murmurs, shortness of breath, poor appetite, and generalized edema. There is another type of congenital heart disease in which deoxygenated blood flows into the arteries, causing the fingers and lips to lose their normal bright red color and appear purple, known as "cyanotic congenital heart disease." Except for a few extremely complex cases, most children with congenital heart disease can be cured or significantly improved with medication or surgical treatment. Rheumatic heart disease When streptococcus infects our throat and tonsils and is not treated thoroughly, it may sometimes cause rheumatic heart disease. The precursor to rheumatic heart disease is rheumatic fever. Before the symptoms of heart disease appear, the child may first experience symptoms such as fever, joint pain, skin rash, subcutaneous abscesses, or involuntary movements of the hands and feet. When the heart and its valves are damaged, the child will develop heart murmurs and symptoms of heart failure. Symptoms of heart failure include decreased urine output, shortness of breath, poor appetite, lower limb edema, abdominal ascites, hepatosplenomegaly, and cardiac enlargement. In terms of treatment, once symptoms of heart failure appear, excessive fluid intake must be avoided, and diuretics should be taken to promote fluid excretion, as well as cardiac glycosides to enhance the strength of heart contractions. After the condition stabilizes, a dose of penicillin must be injected every four weeks to prevent streptococcus from re-infecting and causing rheumatic heart disease again. Polio Polio occurs when the poliovirus enters the human body and destroys the motor neurons in the spinal cord. Motor neurons control the movement of our limbs, and once they are damaged, the limbs naturally become weak and atrophic, hence the term "polio." After infection with polio, the initial symptoms are high fever that does not subside. In severe cases, it may even lead to coma, shock, or difficulty breathing. During hospital observation, the inability to move the limbs gradually becomes apparent, usually only on one side of the body. If the child survives the acute phase, consciousness and intelligence can usually return to normal, but limb paralysis becomes a permanent. Currently, there is no effective medication for viral infections, so prevention is even more important. As long as polio oral vaccine is taken on schedule, polio can be prevented. Reye's syndrome After a viral infection, some children may suddenly develop acute symptoms such as muscle cramps, drowsiness, and coma, which are clinically referred to as "Reye's syndrome." The typical course of Reye's syndrome is as follows: The child catches a cold with mild symptoms, but a few days later, sudden vomiting begins, and the child becomes very sleepy. Soon after, muscle cramps appear, and shortly thereafter, the patient becomes comatose. The child may remain in a coma for several days, some of whom die; others eventually overcome the, although they regain consciousness, they are left with lifelong neurological such as epilepsy, intellectual disabilities, and limb paralysis. In the acute phase of the disease, in addition to brain symptoms, the child's liver may become enlarged, and liver function and coagulation function are poor, all of which must be addressed in treatment. The occurrence of Reye's syndrome is unpredictable, but epidemiological research tells us that reducing the use of aspirin-like fever-reducing drugs during the chickenpox epidemic can lower the incidence of Reye's syndrome. If active treatment is provided in the early stages of Reye's syndrome, when the child has not yet fallen into a coma, the occurrence of neurological can be reduced. Premature infants A premature infant is one born before 37 weeks of pregnancy. There are many reasons for premature birth, including poor maternal health, poor placental function, incompetent cervical closure, congenital infections or malformations in the fetus, and multiple pregnancies from in vitro fertilization. Premature infants may have different complications depending on their level of maturity. The closer the gestational age is to term, such as in premature infants at 35–36 weeks, the fewer complications they have, and their care is similar to that of full-term infants. However, premature infants at 28–29 weeks of gestation face more serious problems. Due to advances in medical technology and equipment, many extremely low-birth-weight premature infants have survived, but the various complications that arise can lead to different, often resulting in poor quality of life for the infant and consuming significant social resources. It is never too late to mend the broken fence, but preventing the occurrence of premature infants is the fundamental solution. Congenital deafness The causes of congenital deafness include congenital infections and congenital brain development abnormalities, with a small portion also being genetically related. Deaf infants, due to their inability to hear, are not easily startled by sudden loud noises; if there is someone speaking or playing music around them, it does not attract their attention, nor do they turn their heads to follow the sound. At around one year of age, normal-hearing children begin to learn to make sounds like adults, while deaf children cannot produce meaningful sounds, let alone develop language skills. While the loss of hearing may seem like a disadvantage in communication at the start of life, if the problem is detected early and sign language and lip-reading training are provided, the child's communication and learning abilities will not be significantly affected, and their future achievements can be the same as those of the general population. Congenital blindness Cases of complete congenital blindness are not common, with the majority being caused by congenital infections leading to cataracts, retinal disease, or optic nerve atrophy, resulting in blindness in both eyes. Blind infants will move their eyes randomly without being able to focus on a light source or an object. Normal infants can focus on their parents' faces by the time they are two months old, and when their parents smile at them, they will smile back or turn their gaze to follow their parents' movements. Blind children, however, cannot observe these reactions. If blindness is caused by cataracts, surgery to remove the lens and the use of glasses or an artificial lens can significantly improve the infant's vision. If the blindness is due to retinal disease or optic nerve atrophy, there is no effective treatment. Although there is currently no treatment for blindness, as long as society can provide an accessible environment, these children can grow up, learn, and work normally, just like the general population.