Non-invasive prenatal genetic testing NIPT is a method that uses maternal blood to detect fetal chromosomal abnormalities and other characteristics in early pregnancy, with no risks for the fetus. This makes it a promising method from both a medical and ethical perspective. Prenatal diagnosis based on amniocentesis or chorionic villus sampling is known to have a small, but real, risk of inducing a miscarriage, which is difficult for many women to accept.

NIPT has considerable growth since it began to be used in 2011, especially because it is offered by various commercial companies, making it accessible to the vast majority of people and countries. Using the NIPT it is possible to detect sex-related chromosomal abnormalities, rare subchromosomal microdeletions and aneuploid disorders (disorders with more or less than 23 chromosomes), especially Down’s syndrome and even more recently to analyze the entire genome. However, there are still few data to support its clinical utility.

However, the NIPT additionally presents objective bioethical problems, such as: being able to use it without the required informed consent, the potential promotion of abortion, that the rights of the disabled may be violated, that problems of justice arise among the possible users and the fact that a non-negligible number of false positives is obtained.

To assess these problems, the Hastings Center has organized a four-day International Symposium to assess the clinical, ethical, legal, social, and economic aspects (see HERE).

The outcome refers to several aspects that should be taken into account when promoting or using NIPT: 1) the limit of personal autonomy to use the test; 2) the possible promotion of abortion; 3) the possible choice of sex and what this can influence in the “family balance”; 4) the negative influence it can have on disability, both from a socioeconomic and cultural point of view, mainly how it can affect fetuses with chromosomal problems, especially Down’s syndrome; 5) also, how economic issues could affect its unfair use in public health environments or in countries with a different economic level; 6) the impact on health programs following an excessive prevalence of commercial interests; 7) the possibility of use without these measures being taken into account by healthcare professionals. Ethical issues are evaluated in a comprehensive report on this symposium (see HERE).

Justo Aznar

Bioethics Observatory – Institute of Life Sciences

Catholic University of Valencia


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