Prenatal diagnosis

First trimester screening (combined test)

The combined test consists of biochemical screening from blood (beta free subunits of HCG and PAPP-A) at week 11 and first-trimester ultrasound screening (NT examination and the presence of the nasal bone (NB)) at week 13.

First-trimester screening (combined test) detects 85 to 90% of affected foetuses. Therefore, a negative outcome of the first trimester screening does not fully exclude aneuploidies (Down, Edwards and Patau syndrome) in the foetus. It only indicates substantially reduced risk of aneuplodia in the foetus.

In case of a positive outcome of the screening, the patient is referred to a genetics specialist who may recommend additional examinations (cfDNA, CVS, AMC) to exclude foetal defects.

To improve the results, it is possible to add the so-called triple test in the second trimester of pregnancy (week 16). The sensitivity of this examination is only 50-60%, but if combined with the screening results from the first trimester, this so-called integrated screening has an accuracy of up to 98%. A positive outcome of the integrated screening indicates the increased probability of foetal Down syndrome and it is recommended to undergo a genetic consultation or other examination methods to rule out this disease.

The maximum accuracy of the screening examination can be achieved thanks to the utilised state-of-the-art instruments and the evaluation by a specialist with the FMF certificate, an institution with international competence which precisely determines the conditions under which screening can be performed.

Integrated test

The information quality of the outcome of first-trimester screening is not sufficient in case of poor quality ultrasound imaging of the foetus (obese pregnant woman, unfavourable position of the embryo relative to the ultrasound probe, scars in the uterus after Caesarean sections). In these cases, it is suitable to combine the first-trimester screening (combined test) with an examination in week 16 of pregnancy (originally a triple test). Screening containing the combined test + triple test is called an integrated test and detects up to 98% of affected foetuses. A positive outcome indicates the increased probability of Down syndrome and it is recommended to undergo a genetic consultation or other examination methods to rule out this disease.

What is the accuracy of screening for Down syndrome?

– mother's age 30%

– blood test in week 16 of pregnancy 50-70%

– screening in the first trimester of pregnancy 90-95% (in case of integration with the triple test up to 98%)

The integrated test is currently not reimbursed by public health insurance and the patient pays the test herself.

Non-invasive prenatal testing (NIPT)

This highly accurate screening method for the detection of aneuploidies is able to detect 99% of foetuses with Down syndrome.
Furthermore, this test is able to detect other aneuploidies such as Edwards and Patau syndrome, sex chromosome aneuploidies, and also determine the sex of the foetus. It can be performed from week 10 of pregnancy. This test is non-invasive and poses no risk to the foetus.

The result of the examination is usually delivered to the laboratory within a week of blood collection. Our site currently uses the following tests: Harmony, Ariosa and PRENASCAN. The test is not covered by public health insurance.

Non-invasive prenatal testing may be considered in the following cases in particular:

- in positive screening for birth defects, with a normal ultrasound finding in the foetus, if the pregnant woman is concerned about possible complications related to amniocentesis and other invasive procedures.

- in borderline results of first-trimester screening

- in pregnant women over the age of 35

Ultrasound screening in week 21 to 22 of pregnancy

It remains the main diagnostic tool for detecting anatomical congenital malformations in foetuses (this is a 2D image).

Why is it important to undergo this examination?

This examination is essential to verify the proper development and growth of the foetus, to assess the location and function of the placenta and to assess the amount of amniotic fluid.

Ultrasound examination in week 28 to 32 of pregnancy

This examination checks the correct anatomical development of the foetus, its position in the uterus and the biometrics of the foetus (estimation of the foetal weight).

3D and 4D images of the foetus

3D/4D ultrasound can also be used to acquire a picture (3D) or video (4D) of your baby directly from your belly. You will be able to see its face, expression and movements, a great experience for future mums and dads. The baby can be seen quite realistically, in 3D and in real time.