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Not all pregnancies are the same. One woman, apart from her growing belly, does not notice any signs or symptoms of pregnancy. Inna struggles with heartburn, nausea and vomiting for 9 months, looking forward to being resolved. Regardless of the course of pregnancy, we must perform a series of tests that check the health of the mother and baby. But what about prenatal screening? Who should do them and when?
Non-invasive prenatal tests
Invasive genetic tests are a series of tests that, without interfering with the health of the mother and the unborn child, are able to assess the condition of the fetus and determine risk of genetic defects. It must be remembered that their incorrect result does not necessarily mean that the child will be born sick. In the case of a bad result of non-invasive prenatal tests, doctors order invasive tests. The group of non-invasive tests includes:
- Genetic ultrasound. An ultrasound scan is performed between the 11th and 14th and between the 18th and 23rd week of pregnancy to identify any abnormalities in the child’s development. During the examination, the doctor moves the ultrasound head across the belly of the pregnant woman and thanks to ultrasound waves, he can see all the structures of the baby’s body on the monitor screen. So it is able to determine the presence of limbs, spine and internal organs. Thanks to it, the doctor can detect abnormalities in the structure of the child’s body characteristic of Down’s, Edwards, Turner or Patu’s syndromes. The cost of a genetic ultrasound is 150-200 PLN.
- Double test. Performed between the 10th and 14th week, it involves taking pregnant blood from a vein and testing it to assess the concentration of betahCG and PAPP-A – hormones produced by the placenta. By performing a double test, the risk of Patau-Down-Edwards syndrome is determined. Its cost is PLN 250-300.
- Triple test. It is performed between the 17th and the 20th week of pregnancy. Like the double test, it involves taking blood from the expectant mother to determine the concentration of betahCG, alpha-fetoprotein and estriol in her body. The test result allows you to assess the risk of Down, Turner and Edwards syndrome and genetic defects of the bladder and kidneys. Its price is PLN 250-400.
- NIFTY test. It is performed between the 10th and 25th week of pregnancy. The test material is the mother’s blood. The analysis of the donated blood is based on sequencing it using advanced techniques. Performing the NIFTY test assesses the risk of a child having trisomy, i.e. an abnormality in the number of chromosomes. The result is very accurate and is up to 99 percent. The price of the test is 2-2,5 thousand. zloty.
Invasive prenatal tests
Invasive prenatal tests are performed when the result of non-invasive tests is abnormal. Then they allow you to confirm or exclude an earlier diagnosis. Invasive tests should only be performed on the express recommendation of a physician, as there is a risk of complications and complications. The most frequently performed invasive prenatal examinations include:
- Amniocentesis. The test is performed after the 14th week of pregnancy. Amniocentesis involves the doctor piercing the mother’s abdominal wall with a long needle. Then a sample of the amniotic fluid is taken from the fetal bladder, in which the cells of the fetus are located. In the laboratory, they split up multiplied in order to determine the child’s karyotype after their analysis. Amniocentesis is a test that can detect nearly 200 genetic defects in a child. However, it is associated with the risk of complications. In 1 percent cases lead to miscarriage. The cost of the test is about 1,5 thousand. zloty.
- Chorionic villus sampling. It is carried out until the 11th week of pregnancy. A fragment of the chorion surrounding the embryo is collected through the reproductive tract of the pregnant woman. This test carries more than twice the risk of complications than amniocentesis. It allows the detection of many genetic diseases, as well as sickle cell anemia. The price of the test is about 1,5 thousand. zloty.
- Cordocentesis. It consists in drawing blood from the umbilical cord. To do this, the doctor punctures the mother’s abdominal wall with a long needle and draws blood from the umbilical cord. Cordocentes also carries a much greater risk of complications and miscarriage than amniocentesis. The cost of the test is about 1 thousand. zloty.
Who should perform non-invasive prenatal testing?
It used to be believed that non-invasive prenatal tests should be performed only by women belonging to the so-called risk groups, i.e. those with features that increase the chances of having a child with a genetic defect. Now, due to the fact that older and older women decide to become mothers, it is believed that every pregnant woman, if financial conditions allow it, should undergo non-invasive tests.
It is certain that neither of us will afford expensive genetic tests. These tests will be reimbursed by the National Health Fund if we belong to the risk group. The risk group includes women who:
- are 35 years of age or older;
- have previously given birth to a child with a genetic disease;
- had previously given birth to a child with a defect in the central nervous system;
- had previously given birth to a child with a metabolic disease;
- confirmed the occurrence of births of children with genetic defects in their family or the family of the child’s father.
In other cases, if we do not belong to the risk group, and we want to perform non-invasive prenatal tests, we have to cover them out of our own pocket.
Who should do invasive prenatal testing?
It must be remembered that due to the risks they pose, invasive prenatal tests should only be performed on the explicit recommendation of a doctor. These are not prophylactic but diagnostic tests, which in extreme cases may lead to miscarriage. They are performed when:
- The double or triple test result was abnormal;
- The genetic ultrasound was abnormal;
- The result of another non-invasive test was abnormal;
- The child has been diagnosed with a defect in the central nervous system.
Performing invasive tests is otherwise unjustified.
Abnormal prenatal test result
An abnormal non-invasive prenatal test is an indication for invasive prenatal testing. If the result of the latter is incorrect, we can be sure that the baby who is due to be born soon is sick.
Early prenatal tests allow you to get used to a sick child, get to know his disease, and adapt your current life to functioning with a sick child.
It is important to know that Polish law stipulates that if the defect or impairment of the fetus is irreversible or if it threatens the mother’s life, it is permissible to terminate the pregnancy. Both the decision about an abortion and the decision to raise a sick child is extremely difficult. Before taking it, it is worth talking to specialists who will dispel all doubts. It is also worth looking for psychological help that will help us get used to the difficult news about the child’s disease.
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