Niet-invasieve prenatale testen: detecteren van numerieke afwijkingen van geslachtschromosomen. Is het wenselijk om deze informatie mee te delen aan zwangere vrouwen?

Abstract

Non-invasive prenatal screening: detection of sex chromosomal aneuploidies. Desirability of reporting these findings to pregnant women On 30 April 2021, the Belgian Advisory Committee on Bioethics issued opinion No. 76 regarding the desirability to report sex chromosomal aneuploidies (SCAs) detected by non-invasive prenatal testing (NIPT). Debate is ongoing in the medical community as to whether it is appropriate to report an SCA of the fetus to the pregnant woman when this abnormality is detected by a genome-wide NIPT. This question presupposes that SCAs should be screened for in the first place. This does not necessarily have to be the case, neither technically nor ethically: if a targeted genome screening was to be conducted instead of the nowadays preferred genome-wide approach, these SCAs would not be automatically identified. The Committee argues that there are insufficient reasons for including SCAs in standard prenatal NIPT screening and reporting. Good quality pre- and post-test counseling is paramount to make sure that expectant parents are making decisions they feel comfortable with down the line. This requires manageable information about the general aim, scope and method of NIPT screening, the reliability and validity of the test, the need to perform invasive prenatal testing in case of positive results, clarity on what the results may imply, and information that extends beyond medical descriptions of the conditions screened for. The Committee stresses that this condition is, at this moment, insufficiently met.