How To Diagnose Down Syndrome

Table of contents:

How To Diagnose Down Syndrome
How To Diagnose Down Syndrome
Video: How To Diagnose Down Syndrome
Video: Down syndrome (trisomy 21) - causes, symptoms, diagnosis, & pathology 2023, February

Down syndrome is a rare genetic disorder characterized by physical and mental developmental delays, often independent of heredity. In most cases, Down syndrome can be determined without resorting to special analyzes, since the external signs in sick children are the same, many of them can be determined from birth. There is a possibility of determining the birth of a baby with such a deviation even during a woman's pregnancy.

How to diagnose down syndrome
How to diagnose down syndrome


Step 1

Take a closer look at the appearance of the child, because children born with Down syndrome have a number of external similarities with each other, strikingly distinguishing them from healthy babies: - small stature, not age-appropriate; - short neck, unnaturally thick for a baby, with folds of skin; - short legs and arms, sometimes with a disturbed distance between the fingers; - "monkey" transverse fold, passing across the palm; - undeveloped weak muscles that lead to a sagging abdomen, drooping shoulders; - small deformed ears; - tongue and mouth of a distorted shape, lead to distortion of the general expression of the face. The tongue often protrudes from the mouth; - flat, depressed bridge of the nose; - curvature of teeth, which grow much later than in ordinary children, and in a chaotic manner; - white spots on the iris of the eye - Brushwild's spot, which does not affect the child's vision; - Mongoloid narrow incision eye with raised outer corners.

Step 2

Pay attention to deviations in the baby's health, since with Down's disease complications develop that should alert parents who are unsure of the normal development of the child: - hearing loss; - heart disease, which can be diagnosed already at birth; - visual impairment; - weakened thyroid function glands; - disorders in the development of the spinal cord; - frequent infectious diseases.

Step 3

Together with the future father of the unborn baby, decide whether you should conduct a series of tests to determine possible genetic and other abnormalities in the development of the child that can lead to the formation of Down syndrome in the fetus. Modern medicine offers a number of tests during pregnancy to diagnose the disease in the early stages: 1. Ultrasound for a period of 10-13 weeks to determine the presence of cervical subcutaneous fluid in the fetus. This method does not give a 100% guarantee, since only a normally developing fetus has a neck visible at such an early stage. Biochemical blood test for chorionic gonadotropin and alpha-feto-protein, which are performed from 10 to 18 weeks of pregnancy. The AFP level does not always depend on the condition of the fetus; it is influenced by many factors in the mother's lifestyle. 3. Amniocentesis is a method based on the study of amniotic fluid, which can lead to spontaneous abortion, infection of the fetus or mother, damage to the fetal bladder, and prolonged contractions for 5-6 hours.

Step 4

With the help of the listed analyzes and studies, only the possibility with some degree of probability of the presence of Down's disease in the fetus is determined, but none of them gives 100% certainty. It is likely that the child in the belly of the expectant mother is quite healthy, and the methods of taking some materials from the pregnant woman for testing are unsafe for the health and even the life of the unborn baby.

Popular by topic