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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...
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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Ethical considerations for choosing between possible models for using NIPD for aneuploidy detection.

Zuzana Deans1, Ainsley Janelle Newson

  • 1Centre for Ethics in Medicine, School of Social and Community Medicine, University of Bristol, 39 Whatley Road, Bristol BS8 2PS, UK. zuzana.deans@bristol.ac.uk

Journal of Medical Ethics
|June 30, 2012
PubMed
Summary

Non-invasive prenatal diagnosis (NIPD) for chromosomal aneuploidies offers new antenatal care options. A model offered at 11-13 weeks gestation with counseling is ethically preferred for informed decision-making.

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Area of Science:

  • Genetics
  • Maternal-Fetal Medicine
  • Bioethics

Background:

  • Non-invasive prenatal diagnosis (NIPD) is emerging for chromosomal aneuploidies.
  • Integrating NIPD into antenatal care requires ethical consideration.

Purpose of the Study:

  • To examine ethical implications of NIPD introduction models.
  • To assess the preferable model for state-funded healthcare.

Main Methods:

  • Analysis of three hypothetical NIPD implementation models.
  • Comparison based on timing, integration with current tests, and impact on autonomy.

Main Results:

  • NIPD introduction timing significantly impacts its ethical standing.
  • Early introduction (11-13 weeks) alongside combined screening is favored.

Conclusions:

  • A model offering NIPD at 11-13 weeks gestation is ethically preferable.
  • Maximal informed decision-making through pre- and post-test counseling is crucial.