Prenatal diagnosis – prenatal tests

Pregnancy is a special time that raises many questions. We would like to provide you with information at an early stage about the options available for antenatal diagnosis and support you in your decisions.

Prenatal diagnostics at our practice

At our practice, we carry out the key prenatal diagnostic tests ourselves.

Thanks to Dr Jánky’s DEGUM II certification and FMF certification, we possess specialist qualifications in the field of antenatal ultrasound diagnostics.

We offer our own prenatal consultation service. This means you do not need to be referred to another practice or clinic for these examinations – all care is conveniently provided here.

As early as your pregnancy check-up between the 8th and 10th week of pregnancy, we will inform you about the various options for antenatal diagnostics and provide you with personalised advice.

We will discuss with you the various tests, their reliability, the procedure involved and the respective costs, so that you can decide at your leisure which tests you would like to have.

We generally recommend two important tests:

  1. First-trimester screening (12th–14th week of pregnancy)
  2. Detailed ultrasound scan (20th–22nd week of pregnancy)

Depending on your preferences and individual circumstances, a non-invasive prenatal test (NIPT) may also be carried out.


First-trimester screening (12th–14th week of pregnancy)

First-trimester screening is a comprehensive ultrasound examination carried out in the early stages of pregnancy.

The optimal time frame is:

  • 11+0 to 13+6 weeks of pregnancy
  • ideally between 12+0 and 13+0 weeks of pregnancy

The scan consists of several parts:

1. Early detailed ultrasound scan

During this scan, your baby’s development and organs are assessed in great detail, including:

  • Head and brain development
  • Face
  • Spine
  • Arms and legs
  • Heart and vital organs

This allows, in particular, more significant abnormalities to be detected at an early stage.

2. Assessment of markers for chromosomal abnormalities

In addition, we look for specific ultrasound findings (‘markers’) that may indicate an increased risk of chromosomal abnormalities.

This includes, amongst other things, the measurement of the nuchal translucency.

Based on the ultrasound findings and other factors, an individual risk assessment can be carried out for the three most common chromosomal abnormalities:

  • Trisomy 21
  • Trisomy 18
  • Trisomy 13

3. Pre-eclampsia risk assessment

In addition, we carry out a risk assessment for possible pre-eclampsia (pregnancy-induced hypertension).

The first-trimester screening is therefore a very comprehensive examination that goes far beyond a standard ultrasound scan.

Cost:
First-trimester screening is not a standard service covered by health insurance and currently costs 249 euros.


NIPT – non-invasive prenatal test (Prenatest®)

NIPT is a simple blood test carried out on the mother.

It involves analysing foetal DNA in the mother’s blood to assess the risk of the three most common chromosomal abnormalities:

  • Trisomy 21 (Down’s syndrome)
  • Trisomy 18
  • Trisomy 13

The test poses no risk to the mother or the baby.

The test for these chromosomal abnormalities is covered by statutory health insurance providers, provided the relevant criteria are met.

If you wish, the sex of your baby can also be determined. This must be specifically requested as an additional service and currently costs around 40 euros.

The NIPT does not replace the ultrasound scan. Both examinations complement each other well:
The NIPT examines the chromosomes, whilst the ultrasound assesses your child’s development and organs.


Detailed ultrasound scan (20th–22nd week of pregnancy)

The detailed ultrasound is a comprehensive ultrasound scan carried out during the second trimester of pregnancy.

The optimal time for this is between:
weeks 20 and 22 of pregnancy

During this scan, your baby’s organs will be examined in great detail once again, including:

  • Brain structures
  • Heart and heart function
  • Heart valves
  • Spine
  • Face (e.g. assessment of a cleft lip and palate)
  • Abdominal organs
  • Arms and legs

Many minor abnormalities can be assessed more accurately at this stage than during the first-trimester screening.

The detailed ultrasound scan is:

  • from the age of 35, a service covered by statutory health insurance
  • otherwise, an individual healthcare service (IGeL)

Costs for self-pay services: currently 249 euros


Our recommendation

We recommend the following combination:

  • First-trimester screening with risk assessment
  • where appropriate, NIPT
  • Detailed ultrasound scan

These tests enable a particularly accurate assessment of your child’s development and provide many parents with added peace of mind.

Please note: Even modern antenatal tests cannot detect all conditions or abnormalities and do not guarantee a healthy child.

If you have any questions, we would be happy to advise you in person at our practice.