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Prenatal testing is an examination of the fetus performed during intrauterine development to rule out birth defects, birth defects and chromosomal aberrations such as neural tube defects, Down’s syndrome, Edwards syndrome and other birth defects.
Prenatal testing
In Poland, prenatal tests are especially recommended for women over 35, as well as for women who gave birth to a child with a defect or have genetic disorders in the family. Prenatal tests are divided into non-invasive and invasive. Non-invasive tests, mainly based on ultrasound (so-called genetic ultrasound) and blood tests, are completely safe for the baby, but they do not provide certainty about possible fetal defects, and only allow to estimate the approximate risk of abnormalities. Invasive examinations require puncturing of the abdominal wall in order to reach the fetal bladder, but due to the possibility of careful examination of the collected material, most of the known defects and congenital abnormalities of the fetus can be ruled out with certainty. Thanks to advanced medicine, it is possible to identify serious defects and diseases of a child at an early stage of pregnancy. In addition, prenatal testing provides information on the inheritance of disease and the consequences of giving birth to a sick or handicapped child.
Prenatal tests – price
The price of prenatal tests depends on the type of method used. The types of prenatal screening tests and their estimated cost are listed below.
Prenatal tests – what they look like
Invasive research
- amniocentesis, which consists in the collection of amniotic fluid. The collected material contains cells from the amniotic system, digestive system, skin and genitourinary system. Their chromosome set is determined. The test result is obtained after about a month. Price: from PLN 1300 to PLN 2000
- biopsy of the trophoblast, the structure from which the placenta will develop later in pregnancy, in which a tissue sample is taken around the 10th week of pregnancy. The tissue sample is collected using a fine needle through the cervical canal or the abdominal wall. Biopsy results are obtained much faster (several days) than amine function, however, it is associated with a higher risk of miscarriage. Price: from 1500 PLN
- cordocentesis, which involves collecting umbilical cord blood, which is very difficult prenatal testing, and at the same time very risky. It consists in puncturing the abdominal wall under local anesthesia, and then collecting blood from the umbilical vein. On the basis of the collected material, it is possible to determine the child’s karyotype and DNA, thanks to which it is possible to know the answer to the question whether the child is burdened with a genetic disease and what disease it is. In addition, cordocentesis allows to determine the child’s blood group and diagnose, for example, congenital infection of the fetus. The test result is obtained up to 2 weeks.
Biological material is collected through the abdominal wall, always under ultrasound control. However, there is a certain risk of miscarriage associated with the procedure itself, so invasive prenatal testing is only performed when the risk of abnormalities in the fetus is significant. The decision in this matter is always made by the doctor at the genetic clinic in consultation with the patient.
Non-invasive research – they are safe for the developing fetus in the womb and allow to assess the possible risk of diseases without endangering the baby. They are based mainly on ultrasound (so-called genetic ultrasound) and blood tests, they are completely safe for the baby, but they do not provide certainty about possible fetal defects, and only allow to estimate the approximate risk of abnormalities. In an uneventful pregnancy, three ultrasound examinations are recommended: between 11 and 14 weeks of pregnancy, around 20 weeks of pregnancy and around 30. Thanks to the ultrasound examination, it is possible to assess the child’s development at a specific stage of pregnancy and to determine whether the pregnancy is single do plural and know the gender of the child. In addition, an ultrasound scan allows the doctor to diagnose spina bifida.
The non-invasive tests include:
1. Test for AFP level in blood – detection of AFP (alpha-fetoprotein) in the blood allows to recognize the presence of a defect of the spinal cord and the brain (e.g. spinal hernia). A high level of alpha-fetoprotein in the mother’s blood may mean that the baby has a problem with the nervous system. In such cases, it is recommended to repeat this examination or perform an ultrasound examination.
2. Triple estriol, AFP and hCH level test – its use allows the detection of Down’s syndrome, but the effectiveness of the test decreases with the age of the mother. During the test, a blood sample is taken and sent for biochemical analysis. The waiting time for the test result: from a few days to a week. Price: approx. PLN 250.
3. NIFTY test – this test has been used in Poland recently. It is similar to the above-mentioned non-invasive prenatal test, which, based on the child’s DNA analysis, determines the risk of fetal defects. For the test, material isolated from the blood of a pregnant woman is needed. The sensitivity of this test is over 99%. Price: approx. PLN 2500.
4. Genetic ultrasound – it differs from ordinary ultrasound in that it is much more sensitive and performed by an experienced specialist in this field. The duration of the genetic ultrasound is approximately one hour. The ultrasound examines the thickness of the nuchal fold, yolk sac, dimensions and shape of internal organs, baby’s nasal bone, heart rate, amniotic fluid, placenta, length of the femurs and umbilical cord. Genetic ultrasound allows to detect, among others, Down’s, Turner and Edwards’ syndromes, but also congenital heart defects, hydrocephalus and spina bifida.
5. Test PAPP-A – which allows the diagnosis of Down syndrome, Edwards syndrome and Patau syndrome. Price: from 250 PLN.
Non-invasive tests are 100% safe for a child, but their conduct does not guarantee that the child does not have any genetic or congenital abnormalities. This method allows to estimate the approximate risk of their occurrence.
Prenatal tests – when do we do?
We perform prenatal tests on pregnant women when:
- her age is over 35 (pregnant women over 42 should not undergo the triple test because there is a high probability of obtaining a false result),
- there is genetic burden in the family (both in mother and father),
- there is a defect in the central nervous system in the current pregnancy,
- there have been aberrations of sex chromosomes in previous pregnancies,
- some abnormalities are noticeable during the ultrasound examination,
- chromosomal mosaicism is present in parents,
- chromosomal translocations are present in parents,
- a woman gave birth to a child with a genetic or developmental defect in a previous pregnancy,
- high concentration of AFP in the serum of pregnant women was detected by a triple test, which may suggest spina bifida.