While the baby is in the womb, a woman is subjected to a lot of research. It is worth noting that some tests for fetal pathology reveal a lot of diseases that are not treated. This is what will be discussed in this article. You will learn how the diagnosis of fetal pathology during pregnancy is carried out (tests and additional studies). Also find out what the results of a particular examination should normally be.
Testing for fetal pathology
Almost every two weeks, the expectant mother has to take tests: blood, urine, flora smear and others. However, these studies do not show the condition of the baby. Tests for fetal pathology are given at certain periods established by medicine. The initial study is carried out in the first trimester. It includes a blood test for fetal pathology andultrasound diagnostics. Further, the study is shown only to those women whose first results were not very good. It should be noted that this only applies to blood tests. Ultrasound diagnostics (analysis for fetal pathology) is carried out in the second and third trimesters.
Who is assigned to study
Each expectant mother can take an analysis for chromosomal abnormalities of the fetus in the first trimester. However, there are categories of women to whom this diagnosis is assigned without their desire. These groups of people include the following:
- women over 35;
- if parents are blood relatives;
- those expectant mothers who have already had pathological pregnancies or premature births;
- women who have children with various genetic pathologies;
- mothers-to-be with a long-term threat of miscarriage or those who have had to take illegal drugs.
Of course, you can challenge the doctor's decision and refuse such studies. However, this is not recommended. Otherwise, the baby may be born with some deviations. Many pregnant women avoid such tests. If you are sure that under no circumstances will you terminate the pregnancy, then feel free to write a refusal to diagnose. However, before that, weigh the pros and cons.
When fetal pathologies are diagnosed
So, you already know that the study is carried out in the first trimester. The analysis canbe carried out between 10 and 14 weeks of pregnancy. However, many doctors insist that a diagnosis be made at 12 weeks to find out if there is a pathology in the development of the fetus. Causes (tests show a positive result) and diagnoses are being clarified a little later.
If a positive result was obtained on the first blood test, then an additional study is carried out for a period from 16 to 18 weeks. Also, this analysis can be carried out on some groups of women at their own request.
Ultrasound diagnostics for the detection of pathologies is carried out at 11-13 weeks, 19-23 weeks, 32-35 weeks.
What research reveals
Analysis for fetal pathology (decoding will be presented later) allows you to identify the likelihood of the following diseases in the baby:
- Edwards and Down syndromes.
- Patau and de Lange syndrome.
- Disturbances in the work and structure of the cardiac system.
- Various neural tube defects.
Remember that the test result is not a final diagnosis. Decoding should be done by a geneticist. Only after consultation with a specialist can we talk about the presence or absence of the likelihood of pathology in an infant.
Blood examination for pathology
Some preparation is needed before the diagnosis. For a few days, it is recommended to give up fatty foods, smoked sausages and meat products, as well as largeamount of spices and s alt. You also need to exclude possible allergens from the diet: chocolate, eggs, citrus fruits, red vegetables and fruits. Directly on the day of sampling, you should refuse any meal. You can drink water no later than four hours before blood sampling.
It's quite easy to get tested for fetal pathology. You just need to expose the elbow bend of the arm and relax. The lab assistant will draw blood and let you go home.
How is a blood test done?
Doctors carefully examine the material received. This takes into account the woman's age, weight and height. Laboratory assistants study the chromosomes that are in the blood. With some deviations from the norm, the result is entered into the computer. After that, computer technology issues a conclusion, which spells out the probability of a particular disease.
At the first screening, diagnostics is carried out on two homons. Later, in the second trimester, lab technicians examine three to five substances. In a period of two to four weeks, the expectant mother can receive ready-made tests for fetal pathology. The norm is always indicated on the form. The result is displayed next to it.
Analysis for fetal pathology: norm, transcript
As mentioned above, the final diagnosis can only be made by a geneticist. However, your gynecologist can also provide a transcript of the result. What are the standards for test results? It all depends on the duration of pregnancy and the level of human chorionic gonadotropin in the blood of a woman at the time of the study.
| Pregnancy weeks | PAPP protein | Chorionic gonadotropin |
| 10-11 | From 0.32 to 2.42 | From 20000 to 95000 |
| 11-12 | From 0.46 to 3.73 | From 20000 to 90000 |
| 12-13 | From 0.7 to 4.76 | From 20000 to 95000 |
| 13-14 | From 1.03 to 6.01 | From 15000 to 60000 |
In the second trimester, the following indicators are still being evaluated: Inhibin A, Placental lactogen and Unconjugated estriol. After calculations of computer technology, the result is given, which may contain the following values:
- 1 in 100 (the risk of pathology is very high);
- 1 in 1000 (normal values);
- 1 in 100,000 (very low risk).
If the resulting value is lower than 1 to 400, then the expectant mother is offered to undergo additional research.
Ultrasound diagnostics in pathology
In addition to the blood test, the expectant mother must undergo ultrasound diagnostics. The first screening evaluates the general 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, normally in children without pathologies, the nasal bone is clearly visible. TVP should be less than 3 millimeters. Required during diagnosistake into account the duration of pregnancy and the size of the baby.
In the second trimester, ultrasound diagnostics reveals pathologies of the cardiac system, brain and other organs. During this period, the child is already large enough and you can clearly see all his parts of the body.
Additional diagnostics
If during the diagnosis a high risk of pathology was revealed, then the expectant mother is recommended to undergo additional studies. So, it can be taking blood from the umbilical cord or taking material from the amniotic fluid. Such a study can accurately identify possible deviations or refute them. However, remember that once diagnosed, there is a high risk of preterm labor or miscarriage.
If the probability of pathology is confirmed, then the expectant mother is offered to terminate the pregnancy. However, the final decision always rests with the woman.
Summing up
So, now you know what diagnostic measures exist 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 he althy and has no abnormalities.
There is one belief: in order for the pregnancy to proceed normally, you need to tie a small baby thing, for example, takes. The knitting pattern (crochet) of the beret can be found in a needlework magazine. Also you can buyalready finished product. Good test results and happy pregnancy!
