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The clinical implementation of non-invasive prenatal diagnosis for single gene disorders: Challenges and progress made

The clinical implementation of non-invasive prenatal diagnosis for single gene disorders: Challenges and progress made
The clinical implementation of non-invasive prenatal diagnosis for single gene disorders: Challenges and progress made
Recently we have witnessed the rapid translation into clinical practice of noninvasive prenatal testing for the common aneuploidies, most notably within USA and China. This represents a lucrative market with testing being driven by companies developing and offering their services. These tests are currently aimed at women with high/medium risk pregnancies identified by serum screening and/or ultrasoundscanning. Uptake has been impressive, albeit limited to the commercial sector. However, non-invasive prenatal diagnosis (NIPD) for single gene disorders has attracted less interest, no doubt because this represents a much smaller market opportunity and in the majority of cases has to be provided on a bespoke, patient or disease-specific basis. The methods and workflows are labour intensive and not readily scalable. Nonetheless, there exists a significant need for NIPD of single gene disorders and the continuing advances in technology and data analysis should facilitate the expansion of the NIPD test repertoire. Here we review the progress that has been made to date, the different methods and platform technologies, the technical challenges, and assess how new developments may be applied to extend testing to a wider range of genetic disorders.
non-invasive prenatal diagnosis, cell free fetal DNA, genetic prenatal diagnosis, single gene disorders
555-562
Lench, Nicholas
3e086d25-0874-43aa-a64d-bc55c4a5351c
Barrett, Angela
d1b00ab1-851b-46b1-b72f-c136d1b12bf0
Fielding, Sarah
745cf42d-f391-48f0-9270-ebd1b7be735d
McKay, Fiona
e79633ab-0000-47ce-9b1e-f967d3c2b72a
Hill, Melissa
2a02772f-043c-4540-bac1-e332ae0c37c5
Jenkins, Lucy
a54f2e8a-8405-46ab-bacc-4a0aecb199c2
White, Helen
2181c0b9-fc3b-407e-95eb-3510524603e5
Chitty, Lyn
4c6e9d36-72ec-40e9-8f28-3a143d0243a3
Lench, Nicholas
3e086d25-0874-43aa-a64d-bc55c4a5351c
Barrett, Angela
d1b00ab1-851b-46b1-b72f-c136d1b12bf0
Fielding, Sarah
745cf42d-f391-48f0-9270-ebd1b7be735d
McKay, Fiona
e79633ab-0000-47ce-9b1e-f967d3c2b72a
Hill, Melissa
2a02772f-043c-4540-bac1-e332ae0c37c5
Jenkins, Lucy
a54f2e8a-8405-46ab-bacc-4a0aecb199c2
White, Helen
2181c0b9-fc3b-407e-95eb-3510524603e5
Chitty, Lyn
4c6e9d36-72ec-40e9-8f28-3a143d0243a3

Lench, Nicholas, Barrett, Angela, Fielding, Sarah, McKay, Fiona, Hill, Melissa, Jenkins, Lucy, White, Helen and Chitty, Lyn (2013) The clinical implementation of non-invasive prenatal diagnosis for single gene disorders: Challenges and progress made. Prenatal Diagnosis, 33 (6), 555-562. (doi:10.1002/pd.4124).

Record type: Article

Abstract

Recently we have witnessed the rapid translation into clinical practice of noninvasive prenatal testing for the common aneuploidies, most notably within USA and China. This represents a lucrative market with testing being driven by companies developing and offering their services. These tests are currently aimed at women with high/medium risk pregnancies identified by serum screening and/or ultrasoundscanning. Uptake has been impressive, albeit limited to the commercial sector. However, non-invasive prenatal diagnosis (NIPD) for single gene disorders has attracted less interest, no doubt because this represents a much smaller market opportunity and in the majority of cases has to be provided on a bespoke, patient or disease-specific basis. The methods and workflows are labour intensive and not readily scalable. Nonetheless, there exists a significant need for NIPD of single gene disorders and the continuing advances in technology and data analysis should facilitate the expansion of the NIPD test repertoire. Here we review the progress that has been made to date, the different methods and platform technologies, the technical challenges, and assess how new developments may be applied to extend testing to a wider range of genetic disorders.

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More information

e-pub ahead of print date: 16 April 2013
Published date: June 2013
Keywords: non-invasive prenatal diagnosis, cell free fetal DNA, genetic prenatal diagnosis, single gene disorders
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 351333
URI: http://eprints.soton.ac.uk/id/eprint/351333
PURE UUID: b213a3a5-6d7b-4759-93b0-9c13e22b9ef5

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Date deposited: 18 Apr 2013 13:50
Last modified: 08 Jan 2022 12:06

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Contributors

Author: Nicholas Lench
Author: Angela Barrett
Author: Sarah Fielding
Author: Fiona McKay
Author: Melissa Hill
Author: Lucy Jenkins
Author: Helen White
Author: Lyn Chitty

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