How Is Down Syndrome Defined?

2024 Author: Josephine Shorter | [email protected]. Last modified: 2023-12-16 21:43

Down's syndrome is a hereditary anomaly, the cause of which is a pathology in the process of chromosome divergence during the formation of reproductive cells that ensure the transfer of hereditary information from parents to their children. In most patients with Down syndrome, instead of the two 21 chromosomes, three are observed. A smaller percentage of cases, but they are still there, when the pathology is associated with the presence of a chromosome fragment.

Today, healthcare is taking all measures so that every woman, having full information, can make her own decisions regarding her pregnancy. If there is a suspicion that a woman is carrying a child with the likelihood of Down syndrome, then she is given the opportunity to use a wide range of different studies to accurately confirm the diagnosis. For the examination, screening methods are used that are safe and easy to carry out.

Prenatal screening is a complex of diagnostic measures to identify gross anomalies in the development of fetal pathology. Ultrasound examination (ultrasound) is performed at 10-14 weeks of pregnancy, the thickness of the collar space is checked. At 20-24 weeks, defects of the brain and spinal cord, kidneys, defects in the development of limbs, facial pathologies, and a violation in the development of the digestive system are determined.

At 30-32 weeks, heart defects, obstruction of the urinary tract, hydrocephalus are found. Although ultrasound diagnostics specialists can make an assumption about the presence of Down syndrome in an unborn child for several main reasons, it is still not so easy to determine Down syndrome by ultrasound. This is a visual examination and is often diagnosed with Down syndrome and a normal baby is born. Biochemical screening is carried out at 10-13 weeks of pregnancy, it more accurately determines the change in specific substances that affect the formation of pathologies in the organs.

If a high risk is detected, an invasive method is prescribed to diagnose the karyotype of the fetus. After the appropriate tests are carried out and the results are obtained, if they are positive, an amniocentesis or chorio biopsy is prescribed, which includes obtaining amniotic fluid from the amniotic cavity and examining the cells of the fetus. During the amniocentesis procedure, a pregnant woman is given a microscopic puncture in the abdomen, and amniotic fluid is taken with a thin needle.

This method was used to diagnose pregnant women over thirty-five years of age, but due to a number of features, this method is not suitable for total screening of pregnant women. Moreover, a child with Down syndrome can also be born to a woman of 20 years old. It is for them that non-invasive antenatal diagnostics have been developed, which makes it possible to identify various biochemical markers in the venous blood of pregnant women. Chorionic biopsy is a puncture into a woman's abdomen to collect material from the placenta.

Placentocentesis reveals the consequences after an infection during pregnancy. It is performed in the second trimester of pregnancy, under general anesthesia. Cordocentesis is a method used on the 18th week to examine umbilical cord blood. The symptoms of the syndrome were described by the English physician Langdon Down in 1866. They are pronounced and noticeable already in the very first days of a newborn's life.

Such children outwardly differ from other children: a small chin, the presence of a vertical skin fold covering the medial angle of the palpebral fissure, a flat bridge of the nose, a transverse palmar fold, a protruding tongue, white spots on the iris (Brushfield spots). Their limbs are distinguished by a significant distance between the thumb and forefinger, a curved little finger. Children are distinguished by an oblique Mongoloid cut of the eyes, a small head, a short neck, a flat face, an irregular bite.

They are born with short arms and legs, impaired coordination of movement, and weak muscle tone. It happens quite often congenital leukemia, narrowing or atresia of the duodenum. In addition, children with this diagnosis often have heart defects and endocrine system disorders. They are characterized by slowness, distortion of bone growth, developmental disabilities and mental retardation. Down syndrome occurs randomly.

This is not influenced by the environment. As a percentage, an additional copy of chromosome 21 is acquired: 88% - from the mother; 8% - from the father; 2% - due to errors during cell division after the fertilization process, when the egg and sperm are combined; Modern advances in diagnostics are able to prevent the birth of children diagnosed with Down syndrome. Seeking diagnostic help will allow you to take care of yourself not only throughout pregnancy, but also throughout your life.

Article author: Mochalov Pavel Alexandrovich | d. m. n. therapist

Education: Moscow Medical Institute. IM Sechenov, specialty - "General Medicine" in 1991, in 1993 "Occupational Diseases", in 1996 "Therapy".

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