Patient's question:
I had a gynecological illness six months before pregnancy and took medication, including interferon. Close to the time of conception, I used Nystatin, suppositories, and Fuyankang capsules. After getting pregnant, I experienced severe morning sickness in the first four months, losing over ten kilograms in weight, staying bedridden, and frequently catching colds. I then used some stomach-protecting traditional Chinese medicine and received some nutritional infusions.In the fourth month of pregnancy, I had frequent exposure to the refrigerator, and as a result, the baby was born prematurely. He is a boy with Down syndrome and also has congenital heart disease. In my husband's hometown, there are also some children with deformities and low intelligence. The water pipes and the bottoms of water bottles there are often covered with a thick layer of hard scale.
Could these factors be related to me giving birth to a child with Down syndrome?
Doctor's answer:
Down syndrome (DowSyndrome), also known as Mongolism, is named after British physician Dr. J.L. Down, who first described the condition. Additionally, patients with this syndrome resemble East Asians in the eyes of Westerners, hence the name. Down syndrome is caused by a congenital chromosomal abnormality. Most patients have a mistake during the genetic division of their 21st pair of chromosomes, leading to an extra chromosome in the nucleus. A smaller portion is caused by translocation. Down syndrome, also known as trisomy 21, is one of the most common severe congenital birth defects. Clinical manifestations include: distinctive facial features, upturned outer corners of the eyes, flat nasal bridge, protruding tongue, muscle weakness, and transverse palmar creases. The vast majority of patients have severe intellectual disabilities and various organ abnormalities, such as congenital heart defects, duodenal atresia, and hypothyroidism. The incidence rate is approximately 1 in 1,000, with Down syndrome occurring at a rate of about 1 in 750. Most cases are randomly occurring, but the incidence increases with the mother's age. When the mother is over 35, the birth rate of affected children can reach as high as 1 in 350. (Children with Down syndrome exhibit many obvious physical and physiological symptoms. They have lower intelligence compared to normal children, with an average IQ of only 40 to 60, but they are usually gentle in temperament. Children with this condition develop more slowly, and due to low muscle tone, they learn to sit and walk later than normal children. They also have very distinctive facial features, making them easily recognizable. Affected children often have wide-set eyes, slanted upward, a flat nasal bridge, small mouths, teeth, and ears. Most patients have simian creases on their palms (commonly known as "lobster claw" hands), and their fingers have special horseshoe-shaped creases. The first and second toes are also unusually wide.)Previously, prenatal diagnosis for such conditions could only be performed through amniocentesis or chorionic villus sampling. However, these methods were time-consuming, expensive, and cumbersome, limiting their use to only high-risk pregnant women. Statistics show that about 80% of fetal chromosomal diseases occur in normal pregnant women, as this group has a higher absolute fertility rate than high-risk groups. Therefore, prenatal diagnosis for this population cannot be ignored from the perspective of eugenics. However, in reality, prenatal diagnostic departments have been unable to bear the costs, leaving this group as a blind spot in eugenics. The introduction of serum marker screening methods in 1988 fundamentally changed the passive situation in prenatal prevention for these diseases.
(Treatment: Currently, there is no medication that can improve the intelligence of individuals with intellectual disabilities. Therefore, treatment for Down syndrome primarily focuses on guidance. However, conditions commonly associated with this syndrome, such as respiratory infections, gastrointestinal atresia, congenital heart disease, and hypothyroidism, can be treated or controlled.)
(Prevention: The average incidence rate of Down syndrome is 1 in 600, but the incidence is more than five times higher in children born to older mothers. Most male patients are infertile, but female patients have a 50% chance of passing the condition to their offspring. Additionally, 5% of patients have translocation, which is highly hereditary and unrelated to maternal age. These cases may occur without any family history, so patients must undergo chromosomal confirmation and screening for translocations. In the early stages of pregnancy, fetal chorionic villus sampling or amniocentesis can be performed, supplemented by ultrasound scans to examine the fetus's head and limbs, to confirm whether the fetus has Down syndrome. This allows parents to decide whether to undergo induced abortion.)