What prenatal diagnostics can – and cannot do
“The main thing is healthy” has always been the main wish of all expectant parents. Modern prenatal diagnostics makes it possible to obtain information about the baby’s health development already in early pregnancy. From a medical point of view, prenatal diagnostics therefore serves to detect developmental disorders and abnormalities in the unborn child at an early stage so that – if possible – treatment can be initiated early and complications averted.
For many parents-to-be, prenatal diagnostics meets their increased need for security: They hope that prenatal examinations will give them the certainty of having a healthy child – a guarantee, however, that prenatal diagnostics cannot provide.
The invasive and non-invasive examination methods of prenatal medicine are a supplement to the usual preventive examinations during pregnancy, which your gynecologist documents in the maternity passport.
Prenatal diagnostics: Methods
- Ultrasound (high resolution, 3D)
- Blood test
- First trimester screening
Non-invasive methods of prenatal diagnostics are low-risk, but do not allow a reliable diagnosis regarding a disease. Therefore, in case of abnormalities, invasive prenatal examinations usually have to follow. These provide fairly reliable diagnoses, but even here an accurate prognosis of the extent of the disability remains difficult. Invasive prenatal diagnostic methods include:
- Chorionic villus sampling
- Amniocentesis (amniocentesis)
- Umbilical cord puncture (chordocentesis)
Prenatal diagnostics: counseling is important
As part of maternity care, your gynecologist is obligated to offer you prenatal diagnostic methods, and to advise and inform you. In principle, however, you have a right not to know. You can make use of this right and explicitly release the doctor from his duty to inform you.
Genetic and psychosocial care by human geneticists and psychologists can also help you. You can also make an appointment with a pregnancy counseling center. Involve your partner in the decision-making process and attend the counseling sessions with him or her.
Patience is required after the procedure: For expectant parents, the days leading up to the results are often very stressful. If this is also the case for you, you should not be afraid to visit a counseling center or a psychologist.
What comes after prenatal diagnostics?
If the prenatal diagnosis results in an abnormal finding, the parents find themselves in a difficult and stressful situation. In addition to emotions such as shock, grief and anger, many questions arise:
- Is further prenatal diagnostics necessary?
- Are there therapeutic options during pregnancy?
- Can intrauterine surgery (surgery in the womb) help?
- How severe is the child’s disability?
- What therapies are available after birth?
- What help and support services are available?
- How would living with a disabled child be managed?
Sometimes it is possible to correct fetal malformations while the child is still in the womb. For some diseases, such as anemia or infections, the doctor can help the child during pregnancy with blood transfusions or medication.
However, for many genetic disorders and diseases, no therapy is possible. The affected couples must then make a conscious decision for or against the child. Since prenatal diagnostics can be performed very early in pregnancy, a possible abortion can also be performed at an early stage. It is then usually much less stressful for the women than in advanced pregnancy.
It is best to consider the consequences of a positive result for you personally before the examination. If you are undecided, you should inform yourself in detail before the prenatal diagnosis. Even if it is clear to you that you want to have your child – whether disabled or not – prenatal diagnostics may be useful for the following reasons:
- preparing the parents for the birth of a sick child
- close monitoring of the pregnancy for the good of the child (best possible outcome)
Prenatal diagnostics – pro & contra
The worry whether they will bring a healthy child to the world, induces many pregnant women to take up the possibilities of the Pränataldiagnostik. They hope that the tests will provide them with certainty and security. However, it is important to remember that doctors can detect malformations, disabilities, hereditary diseases or chromosomal damage in the unborn child with the help of prenatal methods. However, the actual extent of the disability cannot be predicted with certainty. Conversely, even an inconspicuous result of prenatal diagnostics is not an absolute certainty for a healthy child.
In addition, couples should consider the following points when deciding for or against prenatal diagnostics:
- Any invasive prenatal diagnostic procedure carries risk. Sometimes the likelihood of complications is higher than that of a disabled child.
- Some prenatal test results require time, which couples often experience in fear and uncertainty.
- It remains controversial to what extent prenatal diagnostics cause the fear of a disabled child in the first place, or to what extent a negative result actually reassures.
