Understanding prenatal diagnostics: options and choices

When thoughts begin to revolve around pregnancy and the new little life, the question of prenatal diagnostics often arises almost as naturally as the feeling of happiness. For many, it becomes a topic that arouses both curiosity and concern about whether the child might have any malformations or serious illnesses. Some people are unsure about which tests actually make sense and how to deal with the answers they may provide.

There are many options within prenatal diagnostics. Today, it is possible to examine the fetus's chromosomes and the risk of certain diseases long before the child is born. Some tests are completely risk-free, while others involve a small chance of complications. Therefore, it is important to know the options and understand what each one entails.

Different types of prenatal testing

The three most commonly used types of prenatal testing are NIPT (Non-Invasive Prenatal Testing), amniocentesis, and chorionic villus sampling. Each of these methods has its own characteristics, possibilities, and limitations.

The NIPT test – the risk-free blood test

One of the newer options is the NIPT test. It is simply a blood test taken from the pregnant woman. The big advantage is that the test does not involve any risk to the baby – the blood test can be taken as early as weeks 10-11 of pregnancy, and you avoid invasive procedures altogether.

The NIPT test can assess the risk of several major chromosomal abnormalities, such as trisomy 21 (Down syndrome), trisomy 18, and trisomy 13. The test is very reliable, but it is important to note that it is not a definitive diagnosis. You will receive an answer that is close to 100% certain, but not completely certain. If the test indicates an increased risk, it is recommended that you have a more reliable – but also more invasive – test done.

Many people find it very reassuring that this test does not pose a risk to the fetus and can also provide peace of mind if the result is normal. You will always receive good guidance if the test results require further examination.

Amniocentesis – thorough, but slightly more invasive

Unlike the NIPT test, amniocentesis is 99.9-100% accurate and can provide a definitive answer as to whether, for example, there are any chromosomal abnormalities in the fetus. The sample is taken from week 15 by inserting a thin needle through the abdominal wall into the uterus and extracting a small amount of amniotic fluid for examination.

The advantage of this type of analysis is that you get an accurate and reliable answer, but there is a small risk of miscarriage – approximately 0.5%. This means that one in 200 women who have the test taken risk losing their baby. Therefore, many choose to have either an NIPT or nuchal translucency scan first and only proceed with amniocentesis if an increased risk is indicated.

When peace of mind and certainty outweigh uncertainty, this type of test often feels like the right choice for some parents.

Chorionic villus sampling – earlier results, same basic principle

Chorionic villus sampling is similar in many ways to amniocentesis, but can be performed a little earlier in the pregnancy, typically between weeks 11 and 14. Here, a small piece of tissue is taken from the placenta, either through the abdominal wall or via the vagina.

The reliability of the diagnosis is exactly the same as with amniocentesis, and the risk of miscarriage is estimated to be approximately the same, namely around 0.5%.

One advantage of chorionic villus sampling is that you get the results sooner; you can quickly find out about your baby's chromosomes. However, some people still find the wait unbearably long because the uncertainty can be agonizing until the results are in.

Table of the three examination methods

Here is a quick overview of the most important differences between the three most common examinations:

*NIPT is highly reliable, but not 100%. Diagnosis requires confirmation by amniocentesis or chorionic villus sampling if an abnormality is suspected.

How do you choose?

It can be overwhelming to have to choose, especially because prenatal diagnostics bring up big thoughts and feelings. It is worth taking time to reflect and ask yourself and your partner, if you have one:

• How much information do we want to know before the baby is born?
• What will we do if we get an “abnormal” result?
• Are we ready for the choices that further tests may entail?

It is never wrong to want all the information possible – nor is it wrong to decline tests if they feel unnecessary or cause anxiety. The important thing is that the decision feels right for you and your partner.

Who is offered what?

All pregnant women in Denmark are offered a nuchal translucency scan and a malformation scan as part of the public healthcare system. NIPT testing is offered free of charge to women at increased risk or with special circumstances, while others can choose to pay for it themselves. Amniocentesis and chorionic villus sampling are typically only recommended if there is an increased risk based on previous tests or if there are hereditary diseases in the family.

Here is an overview:

• Nuchal translucency scan: Routine scan in weeks 11-14, assesses the risk of chromosomal abnormalities.
• NIPT: Often offered in cases of increased risk or upon request at an additional cost.
• Amniocentesis/chorionic villus sampling: If there is an increased risk or special genetic conditions.

Feelings and expectations

For many, the decision to undergo prenatal diagnostic testing is not based solely on sober consideration. It is inevitable that emotions will come into play – because what do you do if an abnormality is detected? Is it even possible to relate to this before you are in the situation?

Discussions with midwives, doctors, or genetic counselors are often invaluable. The most important thing is to take the time you need and seek information, advice, and support until you feel ready to make a choice—or to refrain from doing so.

Some people find great comfort in knowing as much as possible, while others may prefer to live in uncertainty and take things as they come. There is no right or wrong answer, and everyone's reasons are equally valid.

When the answer comes

Fortunately, most people who undergo tests end up with the news that everything looks fine. This often brings relief and increased joy about the pregnancy. For some, an uncertain or abnormal answer may mean new tests or decisions, and here the healthcare staff are ready to guide and support you all the way – with facts, conversations and care.

If a test indicates a problem, you will not be left to cope on your own. Everyone is offered counseling, both in relation to the medical aspects and the difficult thoughts and feelings that may arise.

Some questions you can ask yourself or the professionals around you

• What knowledge feels most important to us as future parents?
• How much risk do we feel comfortable taking?
• Would we make a decision based on the answer?
• What help would we like to have before we choose?

Having to choose between the different options can be a challenge. But you have the right to guidance, time to think, and support. The healthcare system's job is to ensure that you and your family have the best possible start to the pregnancy and the coming period with your new little one.