What to do if you have chromosomal abnormalities? Prevention is better than cure

Nowadays, chromosomal abnormalities are very common. If you do not pay attention to prevention and treatment, the baby born may very likely have Down syndrome. Everyone should know that the most important thing about chromosomal abnormalities is prevention, and screening in this regard should be done before pregnancy.

1. What to do if you have chromosomal abnormalities

Chromosomal dysgenesis is difficult to treat and the results are unsatisfactory, so prevention is particularly important. Preventive measures include premarital examinations, genetic counseling, chromosome testing, prenatal diagnosis, and if there is a risk of giving birth to a sick child, selective abortion and other measures can be used to prevent the birth of a sick child. The prognosis of trisomy 21 syndrome combined with severe malformations is poor, with most cases resulting in fetal stillbirth or neonatal death. The surviving children have an IQ significantly lower than normal and are unable to take care of themselves. Therefore, if the diagnosis is made before there is a chance of having a baby, termination of pregnancy can be chosen.

Current treatment focuses on symptom treatment and correction of organ deformities, while gene therapy, cell therapy, and replacement therapy are also under development. However, chromosomal abnormalities are difficult to treat and the therapeutic effects are unsatisfactory. There is no effective medicine to treat the congenital intellectual disability caused by them. You can try traditional Chinese medicine or rehabilitation training.

2. Down syndrome, a common chromosomal abnormality

(1) Children with Down syndrome have certain pathological features at birth, and the symptoms become more obvious as they age. The craniofacial manifestations are a round head, a low nose bridge, and maxillary hypoplasia that can cause a flat face. The mouth is slightly open, and the tongue is enlarged with deep fissures that often protrude out of the mouth, hence the name protruding tongue dementia. Epicanthus often covers part of the inner canthus, and the patient's palpebral fissure may tilt slightly upward and outward, forming a Mongol-like facies. The ears are low-set, oval in shape, with small earlobes, and visible gray-white spots on the iris, namely Brushfield's spots. The fontanelle is obvious and closes late.

(2) The affected children are slightly shorter than the average height of normal newborns at birth. The difference becomes more obvious with age. The height of adult patients rarely exceeds that of normal 10-year-old children. The hands are short and thick, with wide palms and only one horizontal line, showing horizontal palm creases (through-the-hand) and other characteristic dermatoglyphic changes, such as the little finger being short and inward-bent with a single crease (i.e., the fifth finger has two sections). Muscle tone is reduced, and most children still cannot walk at the age of 3 to 4 years old. Infants and young children may have slow or unresponsive Moro and difficulty eating. The children have obvious abnormalities in intelligence and mental development, with an IQ of 20 to 70, an average of 40 to 50, mostly below the Gaussian curve. 90% of the children can only speak at the age of 5. Most are quiet, docile, and approachable, and can live up to 40 years.

(3) Some patients may have cataracts, congenital heart disease or cerebral embolism and brain abscess secondary to heart disease, gastrointestinal abnormalities such as duodenal stenosis, atlantoaxial joint instability, strenuous exercise can lead to spinal cord compression, and the incidence of myeloid and lymphocytic leukemia is higher than that of normal people. Patients almost universally develop Alzheimer's disease in their 40s, with symptoms such as inattention, taciturnity, poor visual-spatial orientation, decreased memory and judgment, and epileptic seizures.