It's hard to avoid - if you're expecting a child, you'll inevitably come into contact with this topic during your pregnancy: prenatal diagnostics. That's why I'd like to explain what's behind it here.
What is prenatal diagnosis (PND)?
Let's first look at this word monster "prenatal diagnostics", whose three parts are derived from Latin:
- The syllable "pre" stands for "before, earlier in time".
- "natal" comes from "natalis", which means "relating to birth".
- "Diagnostics" refers to all medical methods used to detect or determine a disease.
The compound word "prenatal diagnostics" therefore refers to various tests that are carried out before birth to find out whether the unborn child has any health problems.
In prenatal diagnostics, a distinction is made between invasive methods and Non-invasive methods are differentiated. For a better understanding: invasive procedures penetrate the woman's body, while non-invasive procedures do not.

What can be determined with prenatal diagnostics?
During pregnancy, every pregnant woman is regularly entitled to three Basic ultrasound examinations to. If there are any indications that the unborn child may not be developing normally, the pregnant woman will be offered certain additional examinations. The aim of these is to identify or rule out possible illnesses or disabilities in the baby. These may include chromosomal abnormalities, malformations, metabolic disorders or hereditary diseases. For example, prenatal diagnostics can detect trisomy 21 (Down syndrome), heart defects, cystic fibrosis or a so-called open back (spina bifida).
However, even if a child is diagnosed with a disability, it is often impossible to predict how severe it will be. Down syndrome, for example, can have very different effects. Impairments that may later be barely noticeable almost completely prevent the person affected from leading a "completely normal" life. As a severe disability, Down syndrome often entails lifelong care in a protected (family or institutional) environment.
Sometimes, however, prenatal diagnostics can be used to not sure can be determined, whether the child actually has a special feature. In this case, it can only be said with certainty that a specific Probability exists. In order to obtain more certainty, one examination is sometimes followed by another.
Even if the expectant mother has certain pre-existing health conditions, such as diabetes mellitus, she will be offered additional examinations.
So if your midwife or doctor detects any abnormalities during a regular check-up, your health insurance will cover the costs of any further necessary diagnostic procedures.
Does early knowledge have advantages?
In the vast majority of cases, however, prenatal diagnostics are not used to treat the unborn child. This is only possible in very specific individual cases and is no longer part of prenatal diagnostics.
However, if you know before the birth that a child will be born ill or disabled, the upcoming birth and any treatment that may be required immediately afterwards can be planned and prepared in the best possible way. This has decisive advantages for the child in particular. The same applies from the perspective of many parents: If they know in advance whether their child will be born disabled or ill, they can also better prepare for this and prepare their life with the child. But you should also be aware of this: Around 95 per cent of all babies are born completely healthy the light of day.
And there is one more thing I would like to make absolutely clear: If you are offered or advised to undergo certain prenatal diagnostic tests, it is still your decision alone whether you want to have them carried out or not. In any case, you also have the right not to know. You can want to have this knowledge. But you can also say that you don't want to know.
I know from looking after parents who are expecting a child that even if the pregnancy goes "like a picture book", some parents want to make sure that their baby is actually doing well. They want certain prenatal diagnostic examinations without any specific reason or suspicion and hope that this will give them more peace of mind. All I can say to you is: It's better to talk to me or your midwife about your fears. It is an illusion that they will disappear through repeated examinations.
In any case, the costs of prenatal diagnostics "without cause" must be borne by the patient. The examination procedures are then offered in the doctor's surgery as so-called individual health services (IGeL).
What would a diagnosis mean?
Firstly, I would like to reassure you: In the so-called first trimester screening (you can find out more about this here) only around five per cent of cases have abnormal findings. Most pregnancies are normal. However, if there is a suspicion that something might be wrong with the baby, this understandably leads to great concern and uncertainty among the women or couples concerned.
Experience shows that many parents push away or suppress the thought that their child might actually be ill or disabled. All the possible consequences that would befall the family in the event of such a finding seem too incomprehensible and frightening at first. If the child is actually impaired, parents are faced with the question: should the pregnancy be terminated? What would life be like with a disabled or chronically ill child? How can they cope with their grief? Suddenly, decisions have to be made that can pull the rug from under your feet. But it is not only when a diagnosis has been made that it is invaluable not to have to walk the path alone.
What about counselling?
Firstly, parents receive before Every prenatal diagnostic examination requires comprehensive medical information and counselling: How does the procedure work? What are the risks for mother and child? What significance does the result have? In other words, how reliably can an impairment and its severity be determined? If necessary, a human geneticist and/or a paediatrician should ideally also be involved in the preliminary consultation.
In addition, all parents are entitled to free psychosocial counselling. They can discuss all their questions, uncertainties, doubts, fears or feelings of grief with a professional counsellor in peace and quiet. This applies to all phases in connection with prenatal diagnostics:
- You can already before an examination get counselling. This will help you decide whether or not you want to have the procedure. My tip for you: Make sure you take advantage of the counselling service before the tests and think about what you want to know about your child early on in your pregnancy. Only then will you be well prepared in the event of an abnormal result.
- You can also seek psychosocial counselling or support at any time while you are waiting for the results of an examination. This waiting time in particular can be very nerve-wracking. It's good to be able to talk to someone about the fear of a diagnosis.
- You can and should also seek counselling and support if the result is positive. This means that your child has actually been diagnosed with a disability or illness. However you react to this and decide - it remains difficult for parents. They are then faced with the question of whether or not to continue the pregnancy. There is no "right" or "wrong" answer to this, it is always an individual decision.
- And finally, you can also seek support in your grieving process after a miscarriage or a (late) termination of pregnancy.
In any case, I would like to expressly encourage you: Get psychosocial counselling and support in all these stressful situations!
3 responses
It's good to know that you can also arrange a consultation beforehand. I am currently in my thirteenth week of pregnancy and would like to find out more about the health status of my child and make sure that everything is going well. The best thing for me to do is to make an appointment with a specialist in prenatal diagnostics.