Prenatal tests – you decide!

Prenatal testing is no guarantee for a healthy child. On one hand, prenatal tests can only detect some of the illnesses and disabilities a child might be born with and on the other, false results can occur. Furthermore, some illnesses and disabilities are the result of birth complications.

Decision concerning a child with a disability

Take the opportunity to get information from your doctor about possible medical measures and to obtain advice and support from parent counselling centres. It can also be helpful to talk directly to other parents who are affected.

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Prenatal tests – you decide!

You are going to be parents. A time of heightened emotion lies ahead and, with it, many new questions and topics. A topic which doesn’t often emerge early on without prompting is prenatal screening and testing.

They include regular monitoring of blood pressure, urine status and body weight, as well as ultrasound scans and a range of blood tests. All these examinations can help predict pregnancy complications and potential chromosomal abnormalities or anomalies of the child. Many of these routine screenings have now become standard procedures to an extent that they are no longer even being discussed. However, expert support of parents-to-be should be based on empathy, non-directive information, advice and time – a precious commodity today.

While screening for chromosomal abnormalities such as Trisomy 21 has been a significant part of prenatal diagnostics for decades, the screening concept itself has evolved considerably over the past few years. Non-invasive tests in particular have become much more effective, but also more complex and more difficult to explain and, therefore, more difficult to understand.

We, the insieme parents’ association, care deeply about informing parents-to-be without pressuring them into deciding in favour or against prenatal testing, or in favour or against having a child with an impairment. This brochure is intended to highlight that you have the right to make an informed decision. We would like to provide contacts and links where you can obtain further information and advice, and give you the opportunity to consider the implications of prenatal testing early on in the process of becoming a parent.

Prenatal tests for the unborn child

Prenatal tests – also known as prenatal diagnostics – which are carried out to examine the unborn child, are medical tests to examine the child’s chromosomes and to find evidence of possible anomalies. The tests generally fall into one of two categories: invasive and non-invasive.

Non-invasive tests

Non-invasive tests include ultrasound scans and various blood tests, as well as the first trimester test (ETT) or foetal DNA tests (NIPT). The ultrasound scan is a tool to determine the number of unborn children, to detect anomalies and to monitor amniotic fluid levels as well as the child’s growth. The ETT provides data for a Trisomy 21 risk assessment, but it cannot predict if the unborn child is, in fact, affected. This can only be determined with an invasive test. In the NIPT test, foetal DNA in the mother’s blood is analysed. None of these tests can provide a 100% certainty as to the chromosomal health of the child.

There are various NIPT tests available today –  screenings for a range of syndromes and other chromosomal abnormalities. A positive NIPT result is not a certain indicator that the child is affected – an invasive follow-up test is required for confirmation.

Invasive testing is the only way to conclusively examine the unborn child’s DNA. Invasive tests involve the ultrasound-assisted sampling of tissue through a needle from the placenta (chorionic villus sampling), from the amniotic fluid (amniocentesis), or, in rare cases, directly from the umbilical chord (cordocentesis). Unlike the non-invasive tests, these examinations can result in a miscarriage. Nowadays, the associated risk is less than 0.5% if the procedure is carried out by a seasoned practitioner.

Prenatal tests are voluntary

Prenatal tests are voluntary. You, as a mother and father-to-be, have the right to decide whether you want to take advantage of all available test methods or just some of them, or if you would rather not have any tests at all. You are entitled to change your mind at any point of the pregnancy and you have the right to ask to not be notified of some or all of the test results if you so wish.

Make sure you are given all the information and advice you need

Before any prenatal tests are carried out, your doctor will inform you about their advantages and disadvantages and about their cost and possible consequences. If necessary, ask for more information and use our list of questions to help you discuss the matter with your doctor. Complement the list with your own questions. In addition, you can always consult any advice centre or parents’ association in the field.

Questionnaire

Take your time

Make sure to carefully consider prenatal testing before you agree to have it. After consulting your doctor, you can always ask for a second opinion from an advice centre or parents’ association, talk to your friends and family and perhaps revisit the questionnaire on insieme.ch.