Prenatal and preimplantation diagnosis: the ethical questions
- Topic
Knowing before birth whether an embryo or fetus has a disease opens hard decisions about information, selection and disability.
What it is
Prenatal diagnosis studies the fetus during pregnancy (maternal blood screening, ultrasound, invasive tests). Preimplantation genetic testing examines embryos created by in vitro fertilisation before transfer: for a known single-gene disease (PGT-M), for structural chromosome rearrangements (PGT-SR) or for aneuploidy (PGT-A). The ethical questions concern consent and non-directive genetic counselling, the right not to know, unexpected findings, the disability-rights critique, sex selection, «saviour siblings» and tests without proven benefit. In Colombia, if prenatal diagnosis shows an anomaly incompatible with life, that is one of the grounds for abortion after week 24.
Structure
- Reproductive autonomy: prospective parents have a legitimate interest in knowing the health of the embryo or fetus and deciding with that information.
- Right not to know: some people prefer not to receive certain results; the offer of testing must respect that.
- Unexpected findings: a test may reveal a variant of uncertain significance or an unsought family fact, such as non-paternity; consent should plan what will be disclosed.
- Expressive critique: disability groups argue that selection reinforces prejudice; others reply that an individual decision does not express a judgement about people living with that condition.
- Saviour siblings: selecting a compatible embryo to donate cells to a sick sibling; the debate is whether the future child is treated merely as a means.
- Selection for non-medical traits or by polygenic scores: most frameworks reject it or consider the evidence insufficient.
In clinical practice
- Offer tests with clear information about what they detect, their false positive and false negative rates and what decisions might follow.
- Separate screening from diagnosis: a positive screen is not a diagnosis and needs confirmation before any decision.
- Keep counselling non-directive and respect both the decision to continue and the decision to end the pregnancy.
- Ask before testing whether the patient wants to know unsought findings, such as fetal sex or variants of uncertain significance.
Legal framework in Colombia
- Resolution 051 of 2023, art. 7.2: after week 24, a fetal anomaly incompatible with life is a ground for abortion, certified by a physician; before week 24 the woman's decision is enough.
- No specific Colombian law on preimplantation genetic testing was found on official sites.
- The Oviedo Convention (Council of Europe, 1997) is a European treaty; Colombia is not a party, but it is used as an international ethical reference.
- Texts checked on 2026-11-13.
Test yourself
Think of the answer, then tap the question to see it.
What is the difference between PGT-M and PGT-A?
PGT-M looks for a single-gene disease known in the family; PGT-A looks for aneuploidy and its clinical benefit is debated.
When does the Oviedo Convention allow choosing a child's sex with assisted reproduction?
Only to avoid a serious hereditary sex-related disease (art. 14).
What is the expressive critique of prenatal diagnosis?
That selecting against a condition may convey that the lives of people with that disability are worth less.
What does it mean for genetic counselling to be non-directive?
That the professional informs fully and in a balanced way without steering the patient toward a particular decision.
Connections
Educational content on ethics and health law; not legal advice. Laws and case law change: each page links the official text and says when it was last checked. For a real case, read the text in force and ask a lawyer or the medical ethics tribunal.
Sources: Convention on Human Rights and Biomedicine (ETS No. 164) (Council of Europe, 1997); Preimplantation Genetic Testing for Genetic Diseases: Limits and Review of Current Literature (Genes, 14:2095) (PubMed Central, 2023); Universal Declaration on the Human Genome and Human Rights (UNESCO, 1997); Resolución 51 de 2023 (texto compilado) (Superintendencia Nacional de Salud, Normograma, 2023).
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Representative model, for educational purposes only.