Down Syndrome Analysis

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

High-quality examination of expectant mothers is an important task, the solution of which eliminates the risk of having children with irreparable pathologies, such as Down's syndrome. In the early stages of pregnancy, an AFP blood test is mandatory, the indicators of which are used to determine fetal malformations. Such a biochemical test is performed from 15 to 20 weeks of pregnancy. Determination of the level of chorionic gonadotropin (hCG) in the blood is prescribed from 14 to 18 weeks of pregnancy.

An increase in the level of chorionic gonadotropin occurs due to many reasons, including Down's syndrome. The presence of possible disorders in the development of the fetus can be found out through the analysis of estriol in the blood serum. The more the level of the hormone is reduced, the higher the likelihood of developing pathological changes in the state of the fetus. The level of free estriol below 40% is considered dangerous.

Indications for prescribing an analysis may be the age of mothers over 35 years old, since it is they who increase the likelihood of having children with chromosomal pathology.

All of the listed prenatal screening tests are, of course, very important and mandatory for every pregnant woman, but they do not guarantee an accurate determination of the absence of Down syndrome, they only enable the doctor to make a decision on further diagnostics, more complex, which is a puncture of the uterus.

In addition to examining the expectant mother, it is necessary to examine all family members. In the blood of each of the spouses, examined for the karyotype, one can detect the presence of exactly the same additional chromosomal fragment (marker chromosome) as in the fetus. In this case, such a circumstance is considered favorable.

If the additional chromosome appeared for the first time, then it is advisable to conduct a more detailed examination using molecular methods in special medical and genetic research centers, where they will give an accurate forecast of fetal development. Especially at risk are spouses who have a child with a chromosomal pathology, they may have the next child with a similar disease.

The capabilities of ultrasound in the diagnosis of Down syndrome in the early stages of pregnancy can only suggest the presence of such a pathology, but it is impossible to identify it with high reliability. More diagnostic signs can be detected on ultrasound equipment in a later period of gestation. With the help of ultrasound at 11-13 weeks of pregnancy, the thickness of the collar zone is determined, which may indicate the risk of having a baby with Down syndrome.

The most effective and common types of medical and genetic diagnostics: examination of chorionic villi, amniocentesis. They can be performed in the first trimester, during this period it is most likely to recognize a violation in the set of chromosomes and their structure. Invasive prenatal diagnostic techniques are very complex procedures.

Amniocentesis is performed for 15-20 weeks by inserting a thin needle through the abdominal wall into the amniotic bladder to examine the amniotic fluid. From the cells isolated from the fluid, the health of the fetus is judged. The study of the chorionic villi is carried out by removing the smallest particle of chorionic tissue from which the placenta is formed using a flexible catheter inserted through the cervical canal or by puncturing the abdominal wall.

The possibility of conducting a study in the early stages of pregnancy (7-9 weeks) implies the timely termination of pregnancy in case of revealing serious fetal pathologies. The results of the study of chorionic villi can be obtained in 7-10 days. Amniotic fluid tests are the most accurate to confirm the diagnosis.

Chromosomal disorder, named after the English doctor John Down, who was the first to describe the symptoms of the disease, occurs in 1 case out of 600 births.

Modern medicine has made possible the early diagnosis of an unborn child during pregnancy, which makes it possible to confirm or deny the preliminary diagnosis and make appropriate decisions on the continuation or interruption of bearing a fetus. All stages of research are optional and can only be performed with the consent of the expectant mother. Down syndrome is a serious deviation from the norm, the range of physical disorders and the degree of mental retardation in each case are individual.

Most babies with Down syndrome are well educated, they can attend kindergartens and schools. Such special children have not only weaknesses, but also strengths, they can be taught almost everything, the main thing is to love, take care and constantly correct their health in special medical institutions.

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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