Which prenatal testing options are available? Which tests are most suitable for my situation? And what does an inconclusive result actually mean?
This guide provides reliable information and practical guidance on the sometimes complex world of prenatal testing—from first-trimester screening and amniocentesis to the potential benefits, risks, and coverage of testing costs.
Methods of Prenatal Diagnostics
Prenatal diagnostics is the term used to describe antenatal examinations that look for malformations or possible disabilities in the developing embryo or foetus. Costs are covered by health insurance under certain circumstances.
There are non-invasive tests, which are examinations from the outside – using ultrasound or blood samples taken from the pregnant person. These include first-trimester screening, blood tests for various trisomies, and detailed ultrasound examinations around week 20 of pregnancy which check whether the organs are developing normally. Heart defects or cleft lip and palate can be detected. While these examinations may raise suspicion of a genetic condition, additional tests are often needed to confirm a diagnosis.
If a genetic difference is suspected, such as Trisomy 21, medical professionals often recommend a DNA examination. This requires an invasive test: Through amniocentesis (sampling of amniotic fluid), chorionic villus sampling (placental puncture) or cordocentesis (umbilical cord puncture), cells from the baby are obtained and genetically examined. These tests produce fairly accurate results but can, in rare cases, cause a miscarriage.
Opportunities and Risks
Some prenatal diagnostic results can help ensure that a baby receives the best possible medical care immediately after birth. For example, if a heart defect is detected, the baby can be delivered in a specialised hospital and treated without delay. Many findings, however, are less straightforward and do not allow for medical treatment before or after birth. In these situations, expectant parents may face difficult questions: Can we cope with raising a child with Trisomy 21? Do we want to know this information now? Could we live with the risk of losing the pregnancy because of a diagnostic procedure? And would we continue the pregnancy if we knew our child had a severe disability or a condition incompatible with life?
“Sometimes I wished I could go back to a time with fewer medical options. Then we wouldn’t have to make these decisions. Which examination to have. Which not. And what to do with the results.”
Do We Want to Know?
Expectant parents feel increasing pressure to take advantage of antenatal examinations in order to have a ‘healthy, normal’ child. These examinations cannot prevent illness or disability. They can only place expectant parents in the position of deciding whether to continue the pregnancy in the event of an abnormal finding. If you do not want to make this decision, or if a termination is not an option for you in any case, speak with your gynaecologist in advance of a blood or ultrasound examination. Accordingly, they will not look for abnormalities that cannot be treated. All options can be discussed at a pregnancy counselling centre at any time during the process.
Making a Good Decision
You may already have received an abnormal finding – with a probability or with a clear diagnosis. You may already be asking yourself whether you wish to continue the pregnancy under these particular circumstances. For a good decision, time, space and exchange are helpful. Talk to friends and to other affected parents. Generally, there is no right or wrong solution. You need to find your own path. But you have a right to grieve and to be angry. To societal support. And to good, neutral counselling that supports you in your decision-making process. Find a counselling centre
“Who do you talk to about it? I was afraid people would judge me. Whatever decision we made. That was what was good about the counselling. It’s a neutral person. They don’t push anything on you.”
Life With a Disabled Child
Many people have little contact with people with disabilities. When parents are expecting a child with special needs, uncertainty is often great. It is worth finding out more. What kind of life would we have with this child? What does this condition or difference mean, what can we expect, what support, assistance and resources are available? Information and experience can be obtained online, from other parents, from paediatricians, midwives or counselling centres. Many families experience daily life with a special child as different – and as normal. There are highs and lows, particular challenges and happy times. Just as with other children.
Late Termination of Pregnancy
Some parents decide to terminate the pregnancy on the basis of a particular finding. A termination after the 14th week of pregnancy is only possible with a medical indication. A doctor must confirm that continuing the pregnancy would seriously endanger the physical or mental health of the pregnant person. In the case of a termination after the 20th week of pregnancy, a potassium chloride solution is injected into the foetus, causing cardiac arrest. Labour is then induced.
After a termination of pregnancy, body and mind often need time to process the pregnancy and the loss. Grief, feelings of guilt, and also relief are normal reactions. Allow yourself time for this.
Counselling on Prenatal Diagnostics
As part of prenatal diagnostics, parents have the right to free psychosocial counselling. At our pregnancy counselling centres, we counsel confidentially and, on request, anonymously. We do not steer you towards any particular decision. Instead, we provide the information and support you need to make an informed decision that is right for you.
If needed, you can receive free counselling several times, providing support throughout the entire process of diagnostics and decision-making. We are also there for you after the birth of a child or after a termination of pregnancy.
Still have questions?
We are happy to advise you in person. Anonymous and free of charge. Respectful and empowering.