Prenatal diagnostics: non-invasive procedures

Prenatal diagnostics: non-invasive procedures

If you would like to read my general information on Prenatal diagnostics (PND) you will know that prenatal diagnostics (PND) are prenatal examination methods used to detect genetic or organic diseases in the foetus. There are two different procedures: The invasive procedures intervene in the woman's body (e.g. amniocentesis). With the non-invasive procedures experts not into the mother's body. This means that there are no health risks for either the mother or the child.

These non-invasive procedures are not standard benefits provided by health insurance companies. However, some health insurance companies cover individual costs as a voluntary service, others do not. Simply ask your health insurance provider which tests they will cover if you would like to have these tests. However, if prenatal diagnostic examinations are medically indicated for certain reasons, the health insurance company will cover the costs.

I would now like to give you a brief overview of non-invasive examination methods.

Basic ultrasound

Every pregnant woman is entitled to three preventive check-ups as part of the general regular check-ups Basic ultrasound examinations. They are used to detect any abnormalities in the mother or child. The doctor also checks the foetus's heartbeat, position and size.

Here are the three time periods for these basic ultrasound examinations in your gynaecologist's practice:

- 9th to 12th week of pregnancy

- 19th to 22nd week of pregnancy

- 29th to 32nd week of pregnancy

The costs for these three ultrasound examinations will always be covered by your health insurance.

Nuchal translucency measurement

During an ultrasound scan between the 11th and 14th week, the amount of fluid that has accumulated under the skin of the baby's neck is measured. If the nuchal fold is thicker than five millimetres, can that indicate a chromosomal abnormality (e.g. Down syndrome) or a heart defect. However, this examination only provides a probability or risk assessment as to whether a disability may be present. The measurement itself does not provide any certainty.

Together with other components, it is regularly part of the so-called first trimester screening, which can also be requested.

If you wish to have your child's neck fold measured without a medical reason, you must bear the costs yourself.

First trimester screening

The results of the nuchal translucency measurement together with other factors are used to calculate the risk of the child having a chromosomal abnormality such as trisomy 13 (Pätau syndrome), 18 (Edwards syndrome) or 21 (Down syndrome). Certain blood values of the mother, her age and the week of pregnancy are also included in this calculation.

This means that first trimester screening is also about the Probability a possible deviation. However, no statement can be made with absolute certainty. As a rule, you are responsible for the costs of the examination if there is no medically justified reason for the first trimester screening.

If the calculated value exceeds a certain limit, the woman concerned is regularly advised to undergo further diagnostics to clarify the situation. This involves invasive procedures such as an amniocentesis. These costs are then covered by health insurance.

Organ screening ("major ultrasound")

This is a detailed diagnosis between the 20th and 24th week of pregnancy using a special high-resolution ultrasound device. The main aim is to assess the development of the baby's organs more precisely. In addition, the baby's spine, arms and legs as well as the blood supply to the uterus and umbilical cord are examined. In this way, around 90% of malformations can be detected. These include heart defects, for example.

However, if diseases such as certain hereditary diseases, metabolic disorders or chromosomal abnormalities do not cause any abnormalities in the organs, then these diseases cannot generally be detected with this ultrasound examination. Only certain recognisable characteristics, so-called "soft markers", can can be interpreted as indirect evidence of a possible genetic disease.

If you request organ screening without a medical reason, you will be responsible for the costs.

Doppler ultrasound

This non-invasive procedure is used by doctors to determine whether the foetus is sufficiently supplied by the placenta. In particular, it measures how quickly the blood flows in the baby's main artery and cerebral vessels. In addition, the blood flow to the uterus, the Placenta and the umbilical cord.

Doppler sonography is used from the 20th week of pregnancy if there is a suspicion that the foetus is not growing properly, has malformations or an abnormal heart rate. However, a multiple pregnancy or the suspicion of the pregnancy diseases Pre-eclampsia resp. HELLP syndrome can be the reason for this investigation.

For these reasons, Doppler sonography is regularly covered by health insurance.

Blood test (NITP)

These are the so-called "non-invasive prenatal tests", abbreviated to NIPT. This allows possible chromosomal abnormalities in the foetus to be examined using a simple blood sample from the mother. Before the blood is analysed, it is determined for which particular abnormality the blood should be examined.

The technical term for this is genetic blood testing of free placental DNA. In plain language, this means that the pregnant woman's blood contains tiny fragments of the child's genetic material (DNA). These fragments originate from the foetal cells in the placenta and can provide information about abnormalities with a high degree of certainty.

Blood analysis can therefore be used to determine the probability of a trisomy or other chromosomal abnormality relatively reliably. For example, the certainty of recognising or ruling out Down's syndrome (trisomy 21) is 99 %.

This risk assessment is divided into three groups after analysing each individual detectable chromosomal abnormality:

- If the result is "low risk", this means that the chromosomal abnormality can be ruled out by almost 100 %.

- If the result is "high risk", this means that the specific chromosomal anomaly is present in the foetus in 9 out of 10 cases examined.

- An "unclear result", on the other hand, means that on average four out of 100 blood samples analysed do not provide a usable result for various reasons. The blood analysis can then be repeated.

The NIPT can be carried out from the 10th week of pregnancy and costs between 130 and 540 euros, depending on the scope. The tests are currently not covered as a regular service by statutory health insurance companies. Only a few insurance companies cover the costs for high-risk patients.

However, I don't want to withhold from you the fact that NIPT is very controversial in Germany. The reason for this is that chromosomal abnormalities can be detected relatively easily at an early stage of pregnancy with a fairly high degree of certainty. Disability associations and some experts therefore fear that foetuses with positive results will generally be aborted. This goes against the conviction of many who are in favour of the right to life with disabilities and the protection of people with disabilities. 

Share now:
The right course for you
Online birth preparation course

The special mum fitness course will get you (back) into your best shape.

Onlinekurs zur Säuglingspflege
Online course on infant care

The online course gives you all the tips and tricks for caring for your baby.

Breastfeeding online course

Comprehensive preparation for breastfeeding, presentation of different breastfeeding positions and help with pain and breastfeeding problems.

Katharina Jeschke: Hebamme, zertifizierte Erste Hilfe Trainerin, zertifizierte Schlafcaochin für Babys und Kinder

Author box
Katharina Jeschke

Founder of elternundbaby.com and midwife, certified first aid trainer, certified sleep coach for babies and children

As a midwife, sleep coach for babies and children and first aid trainer, I help women and parents to organise their pregnancy, birth and time as parents in a good and relaxed way. I am a mum of two adorable children myself.

Children should be able to grow safely and securely. To achieve this, they need strong parents who support their children's development with knowledge and intuition. My midwifery support should give parents the knowledge and confidence to find and follow their own individual path.

This blog elternundbaby.com complements my online midwife consultation and my online courses from notdiensthebamme.de

Discover more articles

Fears during pregnancy & parenthood: Why they are normal and how you can turn them into strength Pregnancy and the transition to parenthood are

Why the pelvic floor is more than just muscles Relaxing the pelvic floor - more than just muscles Many women associate the pelvic floor primarily with physical strength

"You decide - not the adverts" What is World Breastfeeding Week 2025 about - internationally and in Germany? In Germany, the motto of World Breastfeeding Week 2025 is

Comments

One Response

  1. We are considering whether we should have a nuchal translucency measurement. So it's good to know that you have to pay for it yourself. I don't think we can afford it for the time being.

Leave a Reply

Your email address will not be published. Required fields are marked *

Schwangerschaftsvorsorge
Pregnancy care

Midwife Katharina explains in the workshop what is important during pregnancy.

en_GB