Analyzes on the pathology of the fetus. Diagnosis of fetal pathologies

While the baby is in the womb of the mother,a woman is subjected to a lot of research. It is worth noting that some tests on the pathology of the fetus can reveal a lot of diseases that are not treated. This is exactly what will be discussed in this article. You will learn how to diagnose the pathology of the fetus during pregnancy (tests and additional studies). Also find out what the results of this or that survey should be in the norm.

tests for fetal pathology

Analyzes for fetal pathology

Almost every two weeks, the future motherto take tests: blood, urine, a smear on flora and others. However, these studies do not show the state of the baby. Analyzes for the pathology of the fetus are given in certain periods, established by medicine. The initial study is conducted in the first trimester. It includes a blood test for fetal pathology and ultrasound diagnosis. Further, the study is shown only to those women whose first results were not very good. It is worth noting that this concerns only the study of blood. Ultrasound diagnosis (analysis of the pathology of the fetus) is carried out in the second and third trimesters.

Who is assigned the study

To pass the analysis on the chromosomal pathology of the fetus inthe first trimester may, at will, every future mother. However, there are categories of women to whom this diagnosis is prescribed without their desire. These groups of individuals include the following:

  • women, whose age is more than 35 years;
  • if the parents are blood relatives;
  • those future mothers who already had pathological pregnancies or premature births;
  • Women who have children with various genetic pathologies;
  • future mothers with a long threat of abortion or those who had to take illegal drugs.

Of course, you can challenge the doctor's decision andabandon such research. However, this is not recommended. In the opposite case, the baby can be born with some deviations. Many pregnant women avoid these tests. If you are sure that at no outcome of events you will not terminate pregnancy, then boldly write a refusal of diagnosis. However, before that, weigh all the pros and cons.

blood test for fetal pathology

When diagnosing fetal pathologies

So, you already know that the studyis held in the first trimester. The assay can be performed from 10 to 14 weeks of pregnancy. However, many physicians insist that diagnosis should be performed at 12 weeks to determine if there is a pathology of fetal development. Causes (the tests show a positive result) and the diagnoses are clarified somewhat later.

If the first blood test was obtainedpositive result, then carry out an additional study at a time from 16 to 18 weeks. Also, this analysis can be carried out by some groups of women at their own desire.

Ultrasound diagnosis for the detection of pathologies is carried out at 11-13 weeks, 19-23 weeks, 32-35 weeks.

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What allows to identify the study

An analysis of the pathology of the fetus (a transcript will be presented later) allows you to identify the likelihood of the following diseases in the baby:

  • Syndromes of Edwards and Down.
  • Syndrome Patau and de Lange.
  • Disturbances in the work and structure of the heart system.
  • Various defects of the neural tube.

Remember that the result of the analysis is notdefinitive diagnosis. Decoding should be done by a geneticist. Only after consulting a specialist can we talk about the presence or absence of a pathology in the baby.

analysis on chromosome pathology of the fetus

Blood test on pathology

Before the diagnosis, somepreparation. For a few days it is recommended to abandon fatty foods, smoked sausages and meat products, as well as a large number of spices and salt. Also it is necessary to exclude possible allergens from the diet: chocolate, eggs, citrus fruits, red vegetables and fruits. Directly on the day of sampling, it is worth noting any meal. Drink water can be no later than four hours before blood sampling.

To hand over analyzes on a pathology of a fetus is simple enough. You need only to bare the elbow of the arm and relax. The laboratory assistant will take the blood sample and let you go home.

How is the blood test done?

Physicians carefully examine the resulting material. This takes into account the woman's age, weight and height. Lab technicians are studying chromosomes that are in the blood. For some deviations from the norms, the result is recorded in the computer. After this, the computer technology issues a conclusion, in which the probability of a disease is prescribed.

At the first screening, the diagnosis is carried out ontwo homonas. Later, in the second trimester, laboratory assistants examine from three to five substances. In the period from two to four weeks, the future mother can get ready tests for the pathology of the fetus. The norm is always indicated on the form. Next, the result is displayed.

fetal pathology analysis

Fetal pathology analysis: norm, decoding

As mentioned above, the final diagnosiscan supply only a geneticist. However, the decoding of the result can also be provided by your gynecologist. What are the norms of the test results? It all depends on the gestational age and the level of chorionic gonadotropin in the woman's blood at the time of the study.

Weeks of pregnancy

RAPP protein

Chorionic gonadotropin


0.32 to 2.42

From 20,000 to 95,000


0.46 to 3.73

From 20000 to 90000


0.7 to 4.76

From 20,000 to 95,000


From 1.03 to 6.01

15,000 to 60,000

In the second trimester, the followingindices: Ingibin A, Placenta lactogen and Unconjugated estriol. After calculating the computer technology, a result is output, in which the following values ​​can be given:

  • 1 to 100 (the risk of pathology is very high);
  • 1 to 1000 (normal values);
  • 1 to 100,000 (the risk is very low).

If the obtained value is lower than 1 to 400, then the prospective mother is offered to undergo additional studies.

tests for fetal abnormalities

Ultrasound diagnosis on pathology

In addition to the blood test, the expectant mother must undergoultrasound diagnosis. The first screening evaluates the overall structure of the future baby, but special attention is paid to the size of the nasal bone and the thickness of the collar space. So, in norm at children without pathologies the nasal bone is well visible. TVP should be less than 3 millimeters. Be sure during the diagnosis you need to consider the length of pregnancy and the size of the baby.

fetal pathology analysis

In the second trimester, ultrasound diagnosisallows to reveal pathologies of the cardiac system, brain and other organs. During this period, the child is already large enough and it is possible to examine all parts of the body well.

Diagnosis of fetal pathology during pregnancy

Additional diagnostics

If a largerisk of pathology, the future mother is recommended to undergo additional research. So, it can be a blood sampling from the umbilical cord or taking a material from the amniotic fluid. Such a study can accurately identify possible deviations or refute them. However, remember that after diagnosis there is a high risk of premature birth or spontaneous miscarriage.

In case the probability of pathology is confirmed, the expectant mother is offered to terminate the pregnancy. However, the last decision is always for the woman.


So, now you know what are therediagnostic measures to identify pathologies in a future baby. Go through all the studies on time and always listen to the doctor's recommendations. Only in this case, you can be sure that your child is completely healthy and has no deviations.

There is one common belief:that pregnancy was proceeding normally, it is necessary to connect a small child's thing, for example, takes. The crochet pattern (crochet) beret can be found in the magazine by needlework. Also you can buy already finished product. Good for you results of tests and pleasant pregnancy!

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