Signs Of Down Syndrome During Pregnancy

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

Down syndrome during pregnancy

Down syndrome was first described by the English doctor John Down - it is a violation of the chromosome set, or rather the presence of an extra 21st chromosome in the chromosome set of a child received from a father or mother. An ordinary child should have 46 chromosomes, a child with Down syndrome has 47, which leads to a disruption in physical and mental retardation. This syndrome occurs in 1 in 600-700 children. For many years of research practice, scientists, finding out the reasons for the occurrence of a violation of the divergence of the chromosomes of the egg, have established that it depends on the age at which the grandmother (on the maternal side) gave birth to her daughter, on the age of the woman and man, closely related marriages.

The likelihood of such a pathology may be in children of 20-year-old women (1: 1500), and in women whose age has reached 40 years (1 in 100). For a long time, a hereditary disease was diagnosed using the method of amniocentesis, which consisted of taking amniotic fluid through a thin needle through a puncture in the abdomen of a pregnant woman.

A special protein - alpha-fetoprotein (AFP), produced by the fetal liver is released into the amniotic fluid, then enters the blood of the expectant mother, according to the level of AFP in her venous blood, and appropriate conclusions are drawn. A level below the norm indicates the development of Down syndrome in the fetus, and above the norm indicates the pathology of the neural tube. With an increase in the term, the AFP level is constantly growing. However, this method cannot be used to examine all pregnant women, due to some of the characteristics of each of them.

Only women at risk of giving birth late undergo this procedure. There are several more diagnostic methods that make it possible to recognize the development of pathology in the fetus even in the prenatal period. This is a blood test for human chorionic gonadotropin taken for a period of 10-13 weeks and a study of alpha-fetoprotein (ACE) in the period from 16 to 18 weeks. Such screening tests do not give one hundred percent guarantee in the diagnosis; they can show both positive and negative results.

But a biopsy of the chorionic villi allows you to make sure for sure whether the child has a chromosomal pathology or not.

The entire procedure is supervised by an ultrasound machine, which is used to determine the gestational age and to localize the placenta. A probe with a speculum is inserted through the vagina, and a piece of chorionic villi, which are thin finger-like flagella, is removed. The cells of the placenta contain genetic information that allows you to determine the external structure of chromosomes and their number, as well as the sex of the child.

Down syndrome signs

When carrying out an ultrasound of the fetus during the period of 14 weeks of pregnancy, it is possible to detect a violation of the formation of bones of the skeleton, an expansion of the collar space by more than 5 mm, echogenicity of the intestine, the presence of heart defects, an expansion of the renal pelvis, the formation of a cyst of the vascular plexus of the brain. A highly qualified specialist can detect the absence of a nasal bone, cervical folds in the fetus, meaning the accumulation of subcutaneous fluid. This all points to signs of Down syndrome.

The final diagnosis is carried out by the end of the fifth month of pregnancy. Down syndrome is recognizable as it has features in the appearance of the child, namely: slanted eyes and a flat face, wide lips and a wide flat tongue with a longitudinal groove, a round head with a sloping forehead. Short wide neck. The auricles are set low with an adherent lobe.

It can also be identified by the eyes; the so-called Brushfield spots are observed on the iris. The hair is sparse, the hair is soft, straight with a low growth line in the neck. Keel-shaped or funnel-shaped chest. The upper and lower limbs are shortened, the hands and feet are extended. They are also characterized by the presence of a shortened and curved little finger with two grooves. The palms have only one transverse four-fingered furrow. Changes in internal organs and abnormal growth of teeth are noted.

Although Down syndrome is surrounded by many prejudices and misconceptions, there is no point in looking for the culprit. It is believed that in the future, children with this pathology are poorly trained, lagging behind in mental development. But all this is refuted by the example of the life of many people who have their own individual characteristics, have their own habits and hobbies. This did not stop the actor Pascal Duquesne from becoming famous and receiving the Cannes Film Festival Silver Award.

Successful American actor Chris Burke lives a full life with this diagnosis. Musician and composer Ronald Jenkins is appreciated by millions of listeners who adore electronic music, he is considered a genius. There are cases when young people with Down syndrome become champions in various sports.

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".