Prenatal tests are to detect congenital and genetic diseases of the fetus, such as Down syndrome, neural tube defects, and chromosome abnormalities. Prenatal (invasive) tests are recommended mainly for pregnant women over 35, who are pregnant for the first time or have not given birth in 2-5 years. The doctor is obliged to refer the woman for prenatal and preimplantation tests, if there are medical indications.
What are the doctor's obligations and patients' rights under the applicable law regardingprenatal testing ? Every woman must be aware that at the age of 35 she statistically increases the risk of pregnancy and fetal pathology, and each situation in which this pathology occurs requires verification of the he alth and the fetus by means of genetic tests. The aim of prenatal testing is to determine the risk and detect fetal defects in the early stages of pregnancy, which allows the patient to be treated in the womb. As a result, it allows you to prepare for immediate specialist treatment after having your baby.
Prenatal tests: recommendations of the Ministry of He alth
According to the recommendations of the Ministry of He alth, prenatal tests should be used by:
- pregnant women from the age of 35, because such women have a high degree of risk that the born child will be disabled;
- pregnant women with previous fetal chromosomal abnormalities;
- pregnant women with family history of structural chromosomal abnormalities;
- pregnant women with a significantly increased risk of having a child with a monogenic or multifactorial disease;
- pregnant women with abnormal levels of biochemical markers of well-being or an abnormal ultrasound examination in the current pregnancy.
Which pregnancy tests are mandatory?
Prenatal invasive and non-invasive tests
There are two methods of prenatal testing - invasive and non-invasive. Invasive methods require the collection of e.g. amniotic fluid (amniocentesis) - they ensure detection of defects above 99%, but they are associated with a risk of miscarriage, while non-invasive methodsare based on ultrasound or blood tests and allow only to estimate the risk of a given defect.
Obligation to refer to prenatal tests
A doctor is obliged to refer a woman for prenatal and preimplantation tests, if there are medical indications. A referral is required, containing information on indications for the program, along with a description of irregularities and attached test results confirming the legitimacy of the referral to the program, issued by the attending physician - the first visit is indicated in the 12th week of pregnancy.
This is due both to the legal provisions establishing the patient's right to information (Article 9 (2) of the Act of November 6, 2008 on the rights of patients and the Patient Ombudsman, and the Code of Medical Ethics. The right to carry out prenatal tests results fromthe right of a pregnant woman to information about the condition of the fetus , its possible diseases and defects and the possibilities of their treatment in the fetal period (Article 19 (1) (1) and (2)) of the Act of August 30, 1991 on he alth care institutions, Journal of Laws of 1991, No. 91, item 408, as amended).
Pursuant to Art. 38 of the Code of Medical Ethics, it is the doctor's responsibility to familiarize patients with the possibilities of modern medical genetics, as well as prenatal diagnostics. The violation of a pregnant woman's right to prenatal examinations by doctors, which results in her inability to make a decision about a legal abortion and giving birth to a child with irreversible disability, may be grounds for compensation claims. By providing the above information, the doctor is also obliged to inform about the risk of miscarriage related to prenatal tests.
EU legislation on prenatal testing
EU legislation relating to prenatal examinations introduced Art. 12 of the European Bioethics Convention. According to it, it allows for he alth purposes tests that predict genetic diseases or tests that can be used to identify the gene carrier responsible for the disease, and tests that can detect genetic predisposition or susceptibility to disease.
Legal basis: REGULATION OF THE MINISTER OF HEALTH of 6 December 2012 on guaranteed benefits in the field of he alth programs (Journal of Laws of 2012, item 1422)