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Aurora magazine

What information do women want from prenatal screening?

Researchers at the Murdoch Children's Research Institute (MCRI) carried out a study on the relationship between expectant mothers and prenatal screening tests. Specifically, they examined how much information they would like to receive these women and what kind. An option that is not available to date.

The most used method for non-invasive prenatal screening is fetal DNA analysis. Doctors use a sample of maternal blood to isolate shreds of DNA from the fetus. In this way they can detect any variations inside it related to a disease. The method is especially useful for conditions linked to a certain genetic cause, such as trisomies. For other conditions, however, the genetic causes and therefore the diagnosis are still uncertain.

The study in question asked 111 pregnant women if they could have wanted to know all the details of a prenatal screening. These would include both the 99.9% secure outcomes available today and all genetic abnormalities whose meaning is not yet known.

The participants talked to a consultant, who gave them all the information about the genetic tests. The consultant then proposed two options: to receive only reliable and relevant information for the child's health; receive all the information. None of the children showed visible abnormalities with ultrasound.

About 60% of women decided to receive all the genetic test information. The decision does not seem to have caused any adverse effects from the psychological point of view. However, he highlighted the importance of turning to a geneticist, who explains the outcome of all the results.