Down syndrome on ultrasound
Today, ultrasound diagnostics is the safest research method in obstetrics. The main goal of monitoring during pregnancy is to reduce the incidence of adverse outcomes. Research helps to identify many fetal pathologies, including the likelihood of Down syndrome. The name of the syndrome comes from the name of the doctor John Langdon Down, who described the symptoms of this disease. The French professor Lejeune proved that the syndrome is associated with genetic changes.
The word "syndrome" denotes many features and symptoms; doctors and scientists do not consider these genetic disorders to be a disease. Down's syndrome is quite a rare occurrence, such a diagnosis is equally common in both boys and girls. It has been established that the development of Down syndrome in newborns depends on the age of the mother; at the age of 35, the probability is 1 case per 600 children born, after 45 years of 32 children, one can be born with this disorder.
A factor that increases the risk of developing any chromosomal disease in a child is changes in the structure of chromosomes in the mother and father. There are several forms of Down syndrome: trisomy, mosaicism, and translocation. It is important to learn information about the form of the disease for parents who already have a child with Down syndrome, because the forms have different probability of re-birth of a child with such a diagnosis.
Children with Down syndrome are characterized by some external signs, they have a flat face with a slanting eye cut, thick lips, a wide flat tongue with a deep longitudinal groove, a round head, a sloping narrow forehead, small auricles with an accreted lobe. The iris of the eyes is spotty, the hair on the head is soft, with a low growth line on the neck. Such children are characterized by shortened and widened hands and feet, a short inwardly curved little finger.
Chaotic growth of teeth, high palate, pathological changes in the digestive system and heart defects are noted. An ultrasound examination is absolutely harmless to the fetus; this procedure can be performed at any stage of pregnancy, but more information is obtained at 12-14, 21-24 and 32-34 weeks. Ultrasound examination at 12-14 weeks reveals the risk of having a baby with a chromosome abnormality. In the period 21-24 weeks, ultrasound is prescribed to identify the anatomical features of the baby.
The accuracy of the study performed on ultrasound equipment depends on the professional training of the doctor, the quality of technology and many more reasons. A period of 32-34 weeks makes it possible to detect deviations that appear at a later date. Down syndrome is a fairly common chromosomal pathology that occurs accidentally and does not respond to treatment. With the help of ultrasound, it cannot be stated that the child has mental abnormalities.
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But this examination helps in determining chromosome markers, for example, the thickness of the collar zone, the coccygeal-parietal size, the length of the nasal bone, etc. With the help of ultrasound examination, medium and large cardiac pathologies, stenosis of the pulmonary trunk can be detected, but only if the severity of the pathology is large … Evaluation of the anatomy of the fetus allows you to identify the presence of malformations, but not all, if all the same, pregnancy can be terminated at the request of the parents.
An ultrasound study does not allow to diagnose Down syndrome with a 100% guarantee, this method only allows us to suspect its presence. Modern ultrasound technologies allow you to obtain two-dimensional and three-dimensional images of the fetus. Ultrasound of three-dimensional reproduction is used to determine the presence of a spinal hernia, defects of the facial skeleton, etc. The examination with a two-dimensional ultrasound device has more advantages in identifying defects of internal organs.
Defining and identifying Down syndrome is not an easy task. Ultrasound cannot exclude the possibility of chromosomal abnormalities in the fetus. For a more effective diagnosis of Down syndrome, it is desirable to puncture the amniotic cavity under the control of an ultrasound apparatus. Obtaining material for research in this way gives complete information about the set of chromosomes and the study of some genes. This procedure is performed if the risk is approximately 2% out of 100 and is mainly offered to women after 35 years of age.
On ultrasound machines, using special modules, using the Doppler method, they check the condition of the fetus by the intensity of blood circulation in its vessels, placenta, umbilical cord and vessels of the mother's uterus. The indicators at which the behavior of the Doppler ultrasound procedure is prescribed is the discrepancy between the size of the fetus and the period of ripening. Unfortunately, there is no prophylaxis for Down syndrome; it cannot be prevented or cured.
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".
