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VERIFIED CONTENTAuthor: lek. Patryk Jasielski

There are many risks that can disrupt the development of a fetus during pregnancy. They are often of external origin, such as in the case of intrauterine infections or the entry of toxins into the mother's body. However, there are also internal threats. These include the various genetic mutations that lead to disease. They can often be recognized earlier through prenatal screening. In cases of an incurable genetic disease, the legislation of many countries allows for the possibility of abortion. And what does it look like in Poland?

Genetic diseasesconstitute a heterogeneous group of diseases caused by various genetic mutations. They may concern the structure or structure of one gene (these are then single-gene diseases), as well as fragments or entire chromosomes (a chromosome is a form of organization of genetic material in a cell).

A large proportion of these genetic diseases can still be diagnosed during pregnancy (otherwise known as the prenatal period). This is mainly done by an ultrasound examination conducted by a gynecologist and various methods of prenatal examinations. Performing them is especially recommended in women with risk factors.

What is the current legal status regarding the availability of abortion in Poland in the case of genetic diseases? Find out what are the methods of prenatal testing, what is genetic counseling and what are the indications for genetic testing.

Current legal status. When is it possible to have an abortion?

The issues of legality of abortion in Poland are regulated by the Act on Family Planning, Protection of the Human Fetus and Conditions for Termination of Pregnancy of January 7, 1993. Under this Act, abortions could be performed in three situations:

  • When pregnancy poses a threat to the he alth or life of a pregnant woman,
  • When there is a reasonable suspicion that the pregnancy was a result of a criminal act (incest or rape),
  • When prenatal tests or other medical indications indicate a high probability of severe and irreversible impairment of the fetus or an incurable life-threatening disease.

According to the judgment of the Constitutional Tribunal of 22October 2022 (or rather after its publication, January 27, 2022, because then the judgment became legally binding), performing an abortion in the third of the above-mentioned situations became illegal.

So if a genetic disease is found or suspected during pregnancy, an abortion cannot be performed at this time.

In the first and the second case, an abortion can be performed "until the fetus is capable of living independently outside the body of a pregnant woman". In the third case, it was possible up to the 12th week of pregnancy.

Prenatal testing methods

Performing prenatal tests is a very important part of caring for a pregnant and developing child. They enable early detection of irregularities. This makes it possible to correct some of them even during pregnancy.

An example is the posterior urethral valve that prevents urine output. There is a possibility of intrauterine surgery for this defect. This provides a chance for further proper development of the fetus. Other correctable defects are some heart defects or neural tube defects.

Currently available prenatal testing methods are divided into non-invasive (without interfering with the intrauterine environment) and invasive (in which material is collected from the inside of the uterus).

Non-invasive methods:

  • Ultrasonography: nowadays it is the basic examination performed in every pregnant woman. Thanks to the development of technology, the latest ultrasound machines are able to visualize the fetus very accurately. This makes it possible to detect the vast majority of birth defects and on this basis to suspect genetic diseases. Ultrasound is often the first step in prenatal diagnosis. When looking for diseases and defects, the most important are ultrasound examinations performed in the first and second trimesters of pregnancy.
  • Fetal echocardiography: This is popularly referred to as an ECHO test. They are usually performed between 18 and 22 weeks of pregnancy. It can detect many heart defects and heart rhythm disturbances.
  • Biochemical diagnostics: these tests measure the concentration of certain proteins and hormones in the blood of a pregnant woman (beta-HCG, PAPP-A proteins, estriol and alpha-fetoprotein). In the first trimester, a double test is performed (the levels of PAPP-A and beta-HCG proteins are determined). However, in the second trimester, a triple test (estriol, alpha-fetoprotein and beta-HCG) is performed. Elevated or lowered levels of the above proteins and hormones increase the likelihood of certain genetic syndromes (including Down syndrome). Another interesting test is the determination of the fetal DNA in the mother's blood. They can be performed after 10 weeks of pregnancy. Based on DNA analysismany genetic diseases can be recognized.

Invasive methods:

  • Chorionic villus sampling: this is a test performed between 9-12 weeks of pregnancy. The villi are collected in it, which are components of the placenta. It allows the assessment of the chromosomes (karyotype) of the fetus.
  • Amniocentesis: test performed between 15 and 20 weeks of pregnancy. It consists in collecting amniotic fluid from the amniotic fluid of the fetus. It also allows the karyotype to be assessed.
  • Cordocentesis: examination performed after the 16th week of pregnancy. In it, blood is collected from the umbilical cord of the fetus. Like the previous ones, it allows the karyotype to be assessed.

Invasive tests are associated with a low risk (approx. 1%) of complications. These include miscarriage, premature drainage of amniotic fluid or bleeding from the genital tract. The pros and cons should be taken into account when deciding to do so. So that the benefits of the research outweigh the risks.

Genetic counseling. Indications for genetic testing

Another important aspect of maternity care is genetic counseling. As already mentioned, it is important due to the possibility of correcting some of the defects found during pregnancy. Moreover, being aware of their presence, a pregnant woman may be better prepared for childbirth.

It is about giving birth in a specialist center that provides adequate care. Sometimes in such a center it is possible to quickly operate defects that could not be treated intrauterine. This often gives the baby a chance for survival and recovery.

Not all pregnant women have indications for genetic counseling and testing. There is a group of increased risk of genetic defects and diseases.

The group of pregnant women who should undergo genetic testing include:

  • Women over 35 (the survey is available in the calendar year in which they turn 35),
  • In a situation where the pregnant woman or the father of the child have diagnosed structural chromosomal abnormalities,
  • In the previous pregnancy, there was a chromosomal disorder of the fetus or child,
  • A pregnant woman was found to have a much higher risk of having a child with a single or multi-factorial disease,
  • Abnormalities were found in the ultrasound and / or biochemical tests described above, indicating an increased risk of chromosomal abnormalities or fetal abnormalities.

So, if any of the above risk factors for genetic diseases is found, the doctor carries out further diagnostics. Performs fetal ultrasound and biochemical tests. If they show that the risk of genetic diseases is high, this is an indication for invasive diseasesprenatal tests (described earlier).

Depending on the decision of the pregnant woman, one of these tests is performed. If a genetic disease is found, a woman is under the care of a genetic clinic.

All these activities (early prenatal testing, genetic counseling) are aimed at detecting potential genetic diseases and birth defects as quickly as possible. This allows, in some cases, the correction of defects still in the prenatal period. It also allows you to prepare appropriate conditions for childbirth.

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Pregnant examinations