Antenatal diagnosis of trisomy 18, harm and parental choice

Dominic J C Wilkinson1

  • 1Oxford Uehiro Centre for Practical Ethics, The University of Oxford, UK. dominic.wilkinson@ethox.ox.ac.uk

Journal of Medical Ethics
|October 23, 2010
PubMed

Insights

Continued life for a fetus with trisomy 18 may pose harms. Doctors should support parents continuing pregnancies and provide high-quality palliative care for infants with trisomy 18.

Area of Science:

  • Medical ethics
  • Fetal medicine
  • Neonatal care

Background:

  • Trisomy 18 (Edwards syndrome) is a severe genetic disorder often associated with significant health challenges and limited life expectancy.
  • This commentary examines the ethical considerations surrounding the continuation of life for a fetus diagnosed with trisomy 18.

Discussion:

  • The potential harms of continued life for a fetus with trisomy 18 are weighed against parental autonomy and the principle of beneficence.
  • Arguments are presented for avoiding aggressive interventions like major surgery and prolonged intensive care when the chance of benefit is minimal.
  • Emphasis is placed on the importance of honest communication and support for parents making decisions about continuing their pregnancy.

Key Insights:

  • While aggressive medical interventions may be questioned, the decision to continue a pregnancy should be respected and supported.
  • High-quality palliative care is crucial for infants with trisomy 18, focusing on comfort and quality of life.
  • Ethical medical practice requires balancing potential harms with parental rights and compassionate care.

Outlook:

  • Future discussions should focus on enhancing palliative care models for infants with trisomy 18.
  • Continued dialogue is needed on ethical decision-making in complex fetal diagnoses.
  • Improving support systems for families facing trisomy 18 diagnoses is essential.

Related Concept Videos

Teratogenicity01:07

Teratogenicity

The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
Nondisjunction01:21

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...
Nondisjunction01:29

Nondisjunction

During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
Nondisjunction01:29

Nondisjunction

During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Meiosis vs. Mitosis02:57

Meiosis vs. Mitosis

Cell division is necessary for growth and reproduction in organisms. Mitosis aids cell growth and development by dividing somatic cells. In contrast, meiosis causes the division of germ cells and plays an essential role in sexual reproduction. Due to their unique functional requirements, mitosis and meiosis differ from each other in multiple aspects.
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...