Prenatal diagnostics – which tests are useful?
Many questions arise during pregnancy – especially about the health of the unborn child. What prenatal diagnostic tests are available? Which ones are recommended? And what are the risks?
I will give you comprehensive advice in a personal consultation, provide you with reliable answers to your questions and support you throughout your pregnancy.
Modern prenatal diagnostic procedures make it possible to assess your child’s state of health very accurately even before birth. All examinations in my practice are carried out according to the latest medical standards, and the ultrasound examinations are carried out in accordance with the demanding quality criteria of ÖGUM level II. In most cases, the results of prenatal diagnostics are reassuring, so that you can enjoy your pregnancy without any worries and prepare for the birth with joy.
If there are any abnormal findings, I will provide careful clarification and detailed advice on suitable treatment options and further steps.
I offer the following diagnostic procedures in my practice:
Early Screening
before the 12th week of pregnancy
Early screening is an early ultrasound examination that serves to reliably confirm an existing pregnancy. This determines whether the pregnancy is single or multiple. It is also checked whether the pregnancy is developing properly in the uterus or whether there is any indication of an ectopic pregnancy. This examination is usually performed vaginally, as reliable results can be obtained at a very early stage.
I will discuss the findings with you immediately after the examination.
Non-Invasive Prenatal Test (NIPT)
from the 11th week of pregnancy
NIPT is a safe and risk-free method for the early assessment of genetic changes in the unborn child. From the 11th week of pregnancy, the baby’s DNA in the mother’s blood can be analysed by taking a simple blood sample from the mother. Trisomies such as Down’s syndrome (trisomy 21), but also trisomy 13 and 18, can be recognised with a high degree of reliability – without any invasive intervention. Using NIPT, the detection rate for trisomy 21 is 99 per cent, for trisomy 13 92 per cent and for trisomy 18 96 per cent.
It is recommended to combine the NIPT with the Screening 12 – Extended Combined Test. This also enables the early detection of a pre-eclampsia risk as well as up to 65 per cent of structural abnormalities that have no direct genetic cause and cannot be detected by NIPT.
I will discuss the results of the NIPT test with you as soon as the findings are available 7-10 working days after the examination.
Screening 12 – Extended Combined Test
12 th – 14th week of pregnancy
The extended combined test includes a detailed ultrasound examination of the fetus (first trimester screening) and a specific analysis of the mother’s blood.
An important aim of the test is to calculate the probability of genetic abnormalities such as trisomy 13, 18 and 21. The results of the ultrasound (including nuchal fold and nasal bone measurements, blood flow measurements) as well as blood values (fbhCG, PAPP-A and PlGF) and the age of the pregnant woman are combined. Only if the results of the combined test and the NIPT indicate an increased probability of a chromosomal disorder is a chorionic villus sampling or an amniocentesis recommended, which are associated with a relatively high risk of miscarriage (1:200). I offer these invasive examination methods, if necessary, in cooperation with the Pränatalzentrum a.d. Wien, which I manage.
In addition, as part of the first trimester screening, the early fetal anatomy is examined in detail for possible serious malformations such as heart defects.
Any increased risk of pre-eclampsia (pregnancy poisoning) is also revealed as part of this examination – using blood pressure measurements, placental blood flow values and special biomarkers in the blood. As pre-eclampsia can cause serious pregnancy complications and premature birth, early risk assessment is important: This is because targeted preventive measures can reduce the risk of severe pre-eclampsia by more than 80 per cent.
I will discuss the results of the extended combined test with you as soon as the findings are available 1-2 working days after the examination.
Screening 22 – Organ Screening
21st – 24th week of pregnancy
A detailed anatomy scan is used for the early detection of malformations, placental abnormalities or a risk of premature birth. During this comprehensive examination, the child’s internal organs (including the brain, heart, lungs, kidneys, urinary bladder, gastrointestinal tract and liver) and body structures (spine, extremities and body contours) are precisely screened using ultrasound – around 90 per cent of all structural malformations are detected in this way. In the event of abnormalities, therapies can be initiated before the birth and needs-specific birth management can be organised.
In addition, the examination includes measurements of blood circulation (Doppler) and the length of the cervix in order to obtain indications of placental insufficiency or premature birth or to rule these out. Possible signs of chromosomal disorders are also checked.
I will discuss the results of the detailed anatomy scan with you immediately after the examination.
Screening 32 – Wellbeing ultrasound with Doppler examination
from the 26th week of pregnancy, ideally in the 33rd – 36th week
As part of the 4th parent-child-pass examination I also carry out Screening 32: This screening checks whether the child continues to develop optimally in the womb. The position of the baby and the placenta, the amount of amniotic fluid, weight, height, head and abdominal circumference and general growth are checked. The blood flow in the baby’s blood vessels and in the umbilical cord and placenta is also assessed using Doppler flow measurement in order to recognise a possible placental insufficiency at an early stage. The brain, heart and kidneys are examined again in detail, as in rare cases abnormalities can occur even after an inconspicuous detailed anatomy scan (Screening 22 – Organ Screening). However, Screening 32 does not replace the earlier Screening 22. The aim of the examination is to identify risks in good time and, in the event that your child’s health is not ideal, to determine the best possible time for birth.
I will discuss the results of Screening 32 with you immediately after the examination.
Genetic counselling (human genetics)
As a human geneticist, I can provide you with early and well-founded advice on the possible risk of inheriting a disease and on existing (genetic) disorders or malformations in your baby.