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Technological developments in prenatal diagnostics


Next generation sequencing has led to advances for prenatal diagnosis in both invasive and non-invasive methods. Give 3 examples of genetic conditions where these developments have changed the diagnostic pathway, using both non-invasive methods and prenatal whole exome/genome sequencing in your examples. With reference to these 3 examples please discuss 1) how new technologies have advanced the prenatal testing for the condition 2) what are the benefits and possible drawbacks of the new technologies and 3) what are the potential ethical issues connected to these technologies and possible future developments.

Background reading for Essay Choice 2:

Shaw J, Scotchman E, Chandler N, Chitty LS. Preimplantation genetic testing: Non-invasive prenatal testing for aneuploidy, copy-number variants and single-gene disorders. Reproduction. 2020 Nov;160(5):A1-A11. [PMID: 32130205].

Scotchman E, Chandler NJ, Mellis R, Chitty LS. Noninvasive Prenatal Diagnosis of Single-Gene Diseases: The Next Frontier. Clin Chem. 2020 Jan 1;66(1):53-60. [PMID: 31843868].

Mellis R, Chandler N, Chitty LS.Next-generation sequencing and the impact on prenatal diagnosis. Expert Rev Mol Diagn. 2018 Aug;18(8):689-699. [PMID: 29962246].

Horn R et al. Opening Pandora’s box?: ethical issues in prenatal whole genome and exome sequencing. Prenat Diagn. 2018 Jan;38(1):20-25. [PMID: 28695688]

Rose NC and Wick M. Current recommendations: Screening for Mendelian disorders. Semin Perinatol. 2016 Feb;40(1):23-8. [PMID: 26706396].

Essay Structure:
– Introduction: ~400 words (or 300)

o Background (what it used to be) + how it has developed/general info on recent technological advancements (scope and perspective based on up-to-date literature) and CURRENT STATUS of technologies

o Introduce the three examples and explain they will be referenced in the rest of this essay (In this essay we will use the examples of X, Y and Z to discuss)


– Content and development – ~2100-2400 words

o Subheading A (advancements) ~700-800 words

Specific advancements and how they contributed to X, Y Z

Eg non-invasive (NIPT) which is used to do X/Y

Eg prenatal whole genome/exome sequencing for Z

Compare to previous before advancements

o Subheading B (pro/cons) ~700-800 words

Pros examples from X, Y, Z

Cons examples from X, Y, Z

o Subheading C (ethics of these technologies/future developments) ~700-800 words

Wider ethics of it generally

Specific to type of testing (eg NIPT and whole genome/exome sequencing) used currently (of the new technologies)

Ethics of future developments and common concerns

Reference examples from X, Y, Z

– Conclusion

o Summarise points and rephrase (wider view/summary)

o THESIS SUMMARY/CONCLUSION STATEMENT thesis restated but including content and development info)

o Tie up with a perspective and idea on how to go forward or future research needed to blah blah (new perspective not new material)

What more research is needed for understanding

What guidelines need to come out

Eg what committees need to be created etc or public education etc for reducing misunderstanding etc


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