Prenatal testing

Prenatal tests are carried out during pregnancy to rule out possible congenital or genetic abnormalities in the foetus. This is very important because early recognition of any abnormalities allows appropriate treatment to be implemented even while the mother is still in the womb. Thanks to prenatal diagnosis, parents-to-be gain valuable peace of mind, which is so important at this special time.

Prenatal diagnosis is recommended for every pregnant patient. Early information about the baby's state of health is extremely important, as it allows both doctors and parents to prepare accordingly if any abnormalities are detected.

What does prenatal testing consist of?

Prenatal tests vary in the extent to which it is possible to assess the foetus. They are carried out at different stages of pregnancy. A distinction is made between non-invasive and invasive tests. The former include, for example, ultrasound or tests carried out on the mother's blood. They make it possible to assess the state of health of the foetus, the stage of development or sex determination. Invasive tests, on the other hand, are most often ordered for more in-depth diagnosis when there is an increased risk of a genetic defect in the baby. These include amniocentesis, chorionic villus biopsy or cordocentesis.

Non-invasive prenatal testing

Non-invasive, or screening, prenatal examinations are painless and safe for both baby and mother. In the case of ultrasound examinations, no special preparation is required on the part of the patient. It is recommended that the examination is carried out with an empty bladder, which affects the patient's comfort during the examination. It is also necessary to come to the appointment with the results of previous examinations carried out during pregnancy and the pregnancy booklet (chart).

Among the non-invasive prenatal tests performed at the Invimed clinic in Gdynia, the following stand out:

1. 1st trimester ultrasound examination

First trimester ultrasound examination is performed between 11-14 weeks. pregnancy. A few days earlier (preferably 6-7 days), the patient should perform the PAPP-A test, which is a test of plasma pregnancy protein taken from serum in combination with a test of the free β-HCG subunit (F-BHCG). The test is quick and painless, involving only the collection of a blood sample. During the appointment, the doctor examines the patient with the UGS (assessing, among other things, nuchal translucency, i.e. the accumulation of fluid under the skin tissue in the neck of the fetus, and the shape and normal development of the nasal bone) and then enters the results of the PAPP-A test into the appropriate computer programme. It is very important that the ultrasound examination of the first trimester is carried out by a doctor certified by the FMF (Fetal Medicine Foundation), which means that the examination is carried out in accordance with current recommendations and standards. The programme calculates the risk of chromosomal defects in the foetus, i.e. Down syndrome (trisomy 21), Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13). Everything is done in a single visit.

2. 2nd trimester ultrasound examination (mid-term)

Second trimester (midline) ultrasound examination is performed Between 18-22 weeks. pregnancy. During the examination, it is possible to assess the anatomy of the foetus, confirm normal development, exclude possible malformations and assess the risk of preterm birth.

3. third trimester ultrasound examination

Third trimester ultrasound examination is performed between 28-32 weeks. pregnancy. It allows the anatomy of the foetus to be assessed and the development of the various organs to be evaluated. During the examination, the doctor checks the condition of the placenta and the amount of foetal water.

4. 3D/4D examination

3D/4D examination is performed between 26-30 weeks' gestation. It is an examination that is particularly attractive to parents as it provides a clear and spatial image of the foetus. Watching the baby's face evokes a lot of positive emotions, and the ultrasound printout is a keepsake for years to come. Equally great is the 4D ultrasound, which allows you to view their baby in real time, in the form of a film that is recorded on a memory stick.

5. the PREEK study

The PREEK test is used to diagnose pre-eclampsia, or pre-eclampsia. This complication affects approximately 2-5% pregnancies and poses a serious risk to both mother and baby. The PREEK test involves the determination of SFLT-1 and PLGF, which are used as markers for pre-eclampsia.

Testing for pre-eclampsia is most commonly performed in the first trimester (it can also be done throughout pregnancy), and is a biochemical test that involves drawing blood from the pregnant patient.

What diseases do prenatal tests detect?

With prenatal tests, it is possible to monitor the course of the pregnancy and assess the development of the foetus from an early stage until termination. For both parents and doctors, the important role of diagnostics is to be able to detect serious, sometimes life-threatening defects or diseases in the child. This makes it possible to implement appropriate treatment during pregnancy or immediately after the birth of the child. Prenatal testing detects many diseases of the baby, the most common being:

Cystic fibrosis
Duchenne muscular dystrophy
Down syndrome
Huntington's chorea
Phenylketonuria
Turner syndrome
Edwards syndrome

In addition to genetic defects, prenatal testing makes it possible to diagnose diseases that can be treated during pregnancy, e.g. urinary obstruction, thrombocytopenia. It is particularly important to detect a possible heart defect in the foetus. Early diagnosis is of great importance, as sometimes surgery while still in the womb may be the only chance of saving the child's life.

The aim of all prenatal tests is to reassure parents and prepare them for the birth of their child. The risk of abnormalities is low, and modern medicine is becoming increasingly aware of how to deal with the appearance of possible illnesses in the child.

Kajetan Piatkowski, MD - gynaecologist-obstetrician

call the helpline on 500 900 888
complete and submit the form on this page
send e-mail to: invimed@invimed.pl
sign up at the reception desk of the Invimed clinic in Gdynia

Contact us today

Enter your name

Enter your e-mail

Enter your phone number

Choose a clinic

Select topic

Write to us

Your message can have a maximum of 350 characters

Data administrator: Medi Partner Sp. z o.o., Rakowiecka 36, 02-532 Warsaw. Purposes of processing: to contact you back or to answer your question. Legal basis for processing: Legally legitimate interest of the Administrator (Article 6(1)(f) RODO), in the situation of processing of special category data provided by you in the contact form (e.g. information about your health condition) we will act on the basis of Article 9(2)(f) RODO. Rights in relation to data processing: right to withdraw consent to the processing of personal data; right of access to personal data; other rights referred to in the detailed information on data processing. Recipients of data: Entities processing personal data on behalf of Medi Partner Sp. z o. o. Details of data processing.