One of my main tasks in caring for pregnant women is to talk to them and especially to provide them with information. Pregnant women are welcome to take their partner or confidants with them to the consultation as support. The pregnant woman should already know before the examination what the ultrasound can and cannot do. It is also possible that conflicts and feelings of remorse may arise from an abnormal ultrasound finding. In general, the patient always has the right to refuse the ultrasound examination.

Since ultrasound cannot be used to make a diagnosis but only to obtain indications of possible diseases, we will have to talk a lot about “probabilities”. For example, the probability that the child has a chromosomal abnormality. Due to the fact that many genetic diseases can often be very versatile, this problem is often not easy to explain or understand. Therefore, I often use sketches, graphics or pictures to make the explanatory content easier to understand.

If a decision has to be made about further diagnostic measures because of an abnormal finding, there are usually several possible paths here, and each has advantages and disadvantages. In the interview, I see my task as informing the pregnant woman in a comprehensible way and without time pressure in a calm atmosphere about the possible further steps and enabling her to make an informed decision.

In the information talk, I attach importance to using simple language without the constant use of technical terms. The pregnant woman should not be overburdened by the amount of information and she is given the opportunity to decide for herself whether she wants more information or not.

This test is a combination of the ultrasound examination in the 11th-14th week of pregnancy and a blood sample in which two hormones in the mother’s blood are examined, which are distributed differently in the blood of pregnant women with healthy children and pregnant women with potentially sick children. The ultrasound examination is used to exclude or note abnormalities that may indicate a chromosomal disorder.

A globally recognised statistical calculation programme then uses these values to calculate the individual probability of a chromosomal disorder in the unborn child.

You can find more information on first trimester screening and combined test in the further information section on below.

It is important to know: the ultrasound examination has its limits even in experienced hands. The ultrasound examination alone can never say whether the child is “completely healthy”. But with the appropriate experience and favourable ultrasound conditions (depending on the position of the child and the thickness of the maternal abdominal wall, among other things), it is possible to recognise or exclude structural abnormalities in the child and also to examine the care of the child and the environmental conditions (such as the amount of amniotic fluid or the structure of the placenta). In principle, however, it is always possible that small abnormalities, such as a small cleft lip, remain undetected. There are also diseases that only develop in the course of pregnancy.

For more details, please read the Information sheet for organ screening.

I always use a latest generation ultrasound machine in my surgery. This allows me to visualise the child, among other things, in three dimensions (so-called 3D ultrasound). The examination procedure follows the concept and recommendations of the Fetal Medicine Foundation (FMF) London and the Austrian Society for Ultrasound in Medicine (ÖGUM).

In some cases, the combined test or the ultrasound examination alone may reveal abnormalities that require further clarification. Well-tested, so-called “invasive” methods are available for this purpose. Only by means of these examinations can a diagnosis be made! However, it is always the patient who decides whether further clarification should take place or whether she does not want it.

1. The chorionic villus sampling (= placental puncture)

   This examination can be performed from 11+0 SSW (week of pregnancy). Under sterile conditions and ALWAYS under ultrasound vision, a thin, long needle is pushed through the mother’s abdominal wall and inserted into the placental tissue. Tissue samples are then obtained from the placenta via the needle and specially prepared and preserved for genetic testing. Rapid result (for chromosome 13, 18, 21 and the sex chromosomes): after 1-2 days; Final overall result: after 1-2 weeks.

2. Amniocentesis (= amniocentesis)

   We carry out this examination from the 15+0 week gestation. As in the case of placental puncture, a thin, long needle is inserted through the abdominal wall under sterile conditions and under ultrasound vision, and approx. 15 ml of amniotic fluid is taken from the amniotic cavity. The examination is only possible from the 15th completed week of gestation, as only at this point is there enough amniotic fluid for the child to be able to use the amniotic fluid taken. Rapid result (for chromosome 13, 18, 21 and the sex chromosomes): after 1-2 days; Final overall result: after 2-3 weeks.

Both examinations take place here in the office under calm conditions and without time pressure. As with the ultrasound examination, the patient can be accompanied by her partner or another trusted person.

Both procedures have a so-called “miscarriage risk”. This means that in rare cases the puncture can cause a rupture of the membranes or an infection with the onset of labour and the child can be lost. The more experienced the doctor performing the procedure, the lower this risk. On average, however, the risk is said to be 1:200 (= one miscarriage in 200 procedures), and this risk is the same for both procedures.

The genetic evaluation of the samples takes place in Linz (Upper Austria). We have been working closely for many years with the genetic institute of the Kepler University Hospital Linz, under the direction of Prim. Univ.-Doz. Dr. Hans-Christoph Duba.

You can find more information on the website of the Human Genetics Institute in Linz.