The phrase "invasive testing in pregnancy" sounds terrible and may discourage such testing. But the risk of complications from invasive prenatal testing is minimal, and the detection of disease is 100% effective. You just need to know what you are looking for and why.
Invasive prenatal testsallows you to estimate the risk of birth defects in the fetus when the risk of their occurrence is higher than usual. They are, of course, not obligatory, but confirmation of the incurabledefectgives the right to legally terminate the pregnancy. If you take into account such a solution - it is worth doing this research. However, you should be aware that even an invasive test will not give a clear answer whether the child is completely he althy, because tests are performed only for the most common or familial defects. But the result leaves no doubt: the accuracy of these studies is estimated at 99.9%.
BIOPSY OF TROPHOBLAST (KOSMÓWKI)
» When? Between 11 and 14 weeks of pregnancy. This test can diagnose the same diseases as amniocentesis, but is done sooner. NFZ refund? Yes, if there are indications and referral to a doctor who has a signed contract with the National He alth Fund.» How is it going? A trophoblast biopsy involves taking a fragment of the chorion (outer fetal membrane) under ultrasound guidance. The chorion can be collected through the abdomen (needle puncture of the abdominal wall) or through the vagina (through the catheter inserted through the cervix into the uterus). The test result is known after a few days.» Why are they performed? To find out if the fetus is burdened with certain diseases. The chorion is a good material for research to detect or exclude the existence of gene mutations (diagnostics of, among others, cystic fibrosis, Duchenne muscular dystrophy). On the other hand, the karyotype test allows for the detection of trisomy, i.e. a situation where there is too much of one chromosome (diagnostics of, among others, Down's, Edwards, Patau's syndromes).» Risk? The risk of miscarriage is about 1%. (1 in 100 tests performed).
CORDOCENTESIS
» When? From the 18th week of pregnancy, when the pregnant woman experienced a serological conflict. NFZ refund? Yes, if there are indications and a referral from a doctor cooperating with the National He alth Fund.» How is it going? The test involves puncturing the umbilical cord through the abdominal wall and collecting blood from the umbilical vein (under ultrasound guidance). The examination lasts several minutes, after which the pregnant woman should remain under medical care for several hours. About 7 is waiting for the resultdays.» What are they for? Fetal blood analysis can give a lot of information. You can determine, among others a karyotype (a set of chromosomes) and DNA, determining if a child has a genetic condition. When there is a risk of a serological conflict, the fetal count and blood group are examined, as well as the number of antibodies in the mother's blood that destroy the fetal red cells - if there are many of them, it is possible to perform a blood transfusion in the fetus while still in the womb. In the event of severe anemia or fetal generalized edema, intrauterine transfusion is performed every 10-14 days. Such procedures are performed until the fetus reaches maturity, which takes place around the 35th week of pregnancy - then labor should be induced.» Risk? Cordocentesis is the most difficult invasive test, the risk of complications is about two times higher than in the case of other tests - miscarriage occurs on average once every 50 procedures performed.
AMNIOPUNCTION
» When is it done? Between 16 and 19 weeks of pregnancy, if the pregnant woman has an increased risk of genetic disorders. NFZ refund? Yes, if a referral to a genetic clinic is issued by a gynecologist who has a contract with the National He alth Fund.» How is it going? The examination consists in puncturing the uterus and amniotic sac through the abdominal wall (under ultrasound control) and collecting the amniotic fluid. The fluid contains viable fetal cells from the amniotic, skin, genitourinary and digestive systems that can be tested for specific diseases. You wait 10-20 days for the test result.» What is it for? Amniocentesis, just like a trophoblast biopsy, enables: - karyotyping, that is, checking all chromosomes in every cell of the body under a microscope; This allows for the detection of trisomy, i.e. a situation where there is one chromosome too many (which is the cause of Down, Patau, Edwards, Turner syndrome, for example) and other chromosomal aberrations - DNA testing for gene mutations that cause specific diseases (e.g. cystic fibrosis) , Duchenne muscular dystrophy, spinal muscular atrophy, Di George syndrome) - tests for infections that are dangerous for the fetus (eg rubella, cytomegaly, syphilis).» Risk? The risk of miscarriage and premature birth is 1%.
BIOPSY OF FETAL TISSUE
» When? The test is performed only in rare cases of diseases that can only be diagnosed on the basis of microscopic or biochemical examination of the fetal tissues.» NFZ refund? Yes, if there are indications and a referral from a doctor cooperating with the National He alth Fund. How is it going? Under ultrasound control, a section of the skin, muscles or liver is takenfetus.» What are they for? Muscle slices are taken, among others in the diagnosis of Duchenne disease, when DNA tests do not answer whether the child is sick. Liver specimens may be necessary in metabolic defects of this organ, such as ornithine cycle disorders, some storage diseases (if the biochemical tests of the amniotic fluid do not give a definite answer). Skin samples may be necessary in the group of blistering diseases, if DNA analysis is not possible.» Risk? The risk of miscarriage and premature birth is about 1%.
PREIMPLANT DIAGNOSTICS
» When? After IVF, before implantation of the embryo in the uterus. The test is performed in some infertility treatment centers and only when there is a risk of a serious genetic defect in the child.» Reimbursement of the National He alth Fund? Not.» How is it going? When an embryo has reached the 6-8 cell (blastomeres) stage, 1-2 cells are taken from it for genetic testing.» What are they for? To make sure that a he althy embryo is placed in the uterus - to avoid having to terminate the pregnancy in the event of a serious defect. The indications for such diagnostics are: - the age of the future mother and the presence of genetic diseases in her family (Down's, Patau, Edwards, Turner, Klineferter syndrome) - a situation when parents are carriers of faulty genes responsible for diseases such as sickle cell anemia, hemophilia, cystic fibrosis , spinal muscular atrophy, beta-thalassemia, Smith-Lemli-Opitz syndrome etc.» Risk? The collection of cells does not affect the further development of the embryo.
Indications for invasive prenatal examinations:
- positive double or triple test
- incorrect "genetic" ultrasound result
- age of the expectant mother over 40 years old and no (non-invasive) screening tests
- central nervous system defect in the fetus
- having a baby with a metabolic disease
- fetal chromosomal abnormalities in previous pregnancies
- sex chromosome aberrations in previous pregnancies
- central nervous system defect in previous pregnancy
- chromosomal defects in parents.