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.

Technological developments in prenatal diagnostics

Prompt:

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 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].

 

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