Ethics of Cell-Free DNA-Based Prenatal Testing for Sex Chromosome Aneuploidies and Sex Determination

As a prenatal screening test, cell-free DNA-based prenatal testing (cfDNA testing) may lead to widening the scope of prenatal screening beyond common autosomal trisomies. Sex chromosome aneuploidies (SCAs) are candidate conditions for such expansion that is already taking place in the private sector. However, such screening for SCAs has no established clinical utility and is likely to be unhelpful to the pregnant woman and her health professionals. cfDNA testing may also be used for early fetal sex determination. When this is done for nonmedical reasons, it raises concerns over the potential use of this information by those considering termination when the fetus is not of the desired sex. In order to avoid contributing to this, cfDNA testing should not be used for fetal sex determination (unless for medical reasons) and should ideally be performed in a way that avoids generating information about fetal sex.