Prenatal Testing

(Prenatal Diagnostics)

During pregnancy, you have access to various prenatal tests that can provide information about your child’s health. First things first: You can choose to have all of them, some of them, or none at all—the choice is yours. Our job is to provide you with thorough and unbiased information without pressuring you in any direction. And just as important: The vast majority of children are born healthy.

What It’s About

Prenatal tests range from ultrasounds and blood tests for the mother to analyses of amniotic fluid or the placenta. They screen for specific conditions or genetic abnormalities—such as a chromosomal disorder like trisomy 21 (Down syndrome). However, there is one thing they can never do: guarantee a completely healthy child. And not every finding can be treated; some tests primarily provide you with information that you must then come to terms with. Occasionally, unexpected or unclear findings arise that initially require further investigation.

Your right to know—and your right not to know

Prenatal testing is voluntary. You have the right to receive comprehensive information and then decide freely—between the two extremes of “I want to know everything that’s possible today” and “I don’t want to know anything and will accept my child as they come.” Both are acceptable. You may choose not to undergo any testing at all, have only some tests done, or even decide not to learn the results of a test that has already been performed. For tests involving the child’s genetic material, the law (the Federal Act on Genetic Testing in Humans) requires your written consent. And by law, our counseling is non-directive: We do not push you in any particular direction, but rather guide our approach based on your wishes and values.

How We Make Decisions Together

In a detailed discussion—usually around weeks 11 to 14—we’ll explore together which tests are appropriate for you and what they can reveal.

If a result is abnormal

If a test reveals an abnormal finding, we will refer you to a prenatal center—a facility specializing in prenatal diagnostics. There, you’ll receive in-depth counseling, any necessary further evaluations, and, if needed, planning for the next steps. You have the right to be informed about all your options—continuing the pregnancy, terminating the pregnancy, and alternatives to termination—as well as about parent and support groups. You decide which path to take; we’ll support you along the way.

An Overview of the Tests

We provide more detailed information about the individual tests on separate pages:

• Ultrasound – makes the baby visible and assesses its development and organs (→ “Ultrasound”).
• First-trimester screening and nuchal translucency – estimate the risk of trisomy based on gestational age, ultrasound findings, and blood test results (→ “First-trimester screening”).
• NIPT – a blood test that analyzes the baby’s genetic material from the mother’s blood (→ “NIPT”).
• Amniocentesis and chorionic villus sampling – provide definitive results through a tissue sample (→ “Amniocentesis”).
• Rhesus factor – relates to blood type and the protection of the baby (→ “Rhesus factor”).

The nuchal translucency ultrasound, along with the first-trimester test, takes place around weeks 11 to 14, while the major organ screening is performed between weeks 20 and 23. A chorionic villus sampling (CVS) is possible starting in weeks 11 to 12, and an amniocentesis is usually performed toward the end of week 16.

How common are such problems?

To put this in perspective: About three out of every hundred children are born with a birth defect—often a mild one or one that is easily treatable. Serious genetic abnormalities are less common, but not as rare as is often assumed: they affect about one to one and a half out of every hundred children and are not always detectable on ultrasound (Wapner et al. 2012). The risk of chromosomal abnormalities increases with the mother’s age. We always discuss your personal risk with you. And in any case, the vast majority of children are born healthy.

Costs

Basic health insurance covers the first- and second-trimester ultrasounds as well as the first-trimester screening test. NIPT is covered only if the first-trimester screening test has indicated an elevated risk (greater than 1:1,000); otherwise, you will have to pay for it yourself (approximately 500 to 800 francs, depending on the test). We will clarify the specifics of your situation with you in advance.