Outcome of 185 pregnancies studied by prenatal genomic array technique: Bioethical reflections

Abstract

Prenatal genetic diagnosis with new high-performance technologies such as genomic array adds great complexity to the ethical dilemmas that already exist in current medicine. The main objective of this study was to carry out an analysis and bioethical reflections centred on the outcome associated with the use of the genetic array technique in 185 pregnancies at the Hospital Universitario y Politécnico La Fe (Valencia, Spain). It is an observational, descriptive and cross-sectional study during the years 2014 to 2017, inclusive. We analyse the results and the follow-up of the 185 cases in which this prenatal genetic study was carried out by array technique. Of the 185 prenatal genetic studies carried out, 165 showed no copy number variants (normal result) and in the 20 remaining pregnancies (10.81%), a dose change was detected. Abortion was carried out in 11 cases with pathological and/or probably pathological abnormalities. Of the 165 cases in which no dose variant was detected, an abortion was carried out in 49 cases, which represents 29.7%. The introduction of new genomic analysis techniques to invasive prenatal diagnosis highlights the ethical problems that arise above all in the interpretation of genetic variants detected and genetic counselling, while emphasising the need for correct informed consent and it adds, if possible, more controversy to a subject with great bioethical substance such as abortion.