Skip to main content Accessibility help
×
Hostname: page-component-78c5997874-m6dg7 Total loading time: 0 Render date: 2024-11-02T20:36:57.523Z Has data issue: false hasContentIssue false

11 - Non-invasive prenatal diagnosis: the future of prenatal genetic diagnosis?

Published online by Cambridge University Press:  05 February 2014

Lyn Chitty
Affiliation:
University College Hospital, London
Gail Norbury
Affiliation:
Great Ormond Street Hospital
Helen White
Affiliation:
Salisbury District Hospital
Sean Kehoe
Affiliation:
John Radcliffe Hospital, Oxford
Lyn Chitty
Affiliation:
University College Hospital, London
Tessa Homfray
Affiliation:
St George’s University of London
Get access

Summary

Introduction

Current prenatal diagnosis of fetal genetic status or aneuploidy depends on the use of the invasive diagnostic tests amniocentesis and chorionic villus sampling (CVS), which carry a small but significant risk of miscarriage. For many years, researchers have sought alternative sources of fetal material on which to base genetic prenatal diagnosis. It was initially thought that fetal cells in the maternal circulation would fulfil this role but it is now recognised that this approach is unlikely to be clinically useful because of the scarcity of these cells and the inability to analyse them reliably. The identification of cell-free fetal DNA (cffDNA) in both maternal plasma and serum offered potential as an alternative source of fetal genetic material for prenatal diagnosis when molecular determination of fetal sex was achieved using the Y-chromosome-derived gene TSPY, found in the DYS14 marker sequence using a nested polymerase chain reaction (PCR). Lo's group then went on to show that cffDNA can be detected in maternal plasma from 4 weeks of gestation and is cleared rapidly from the maternal circulation after delivery, making it a potentially ideal source of fetal material for prenatal diagnosis. It is now thought that cffDNA emanates from the placenta as normal levels of cffDNA have been reported in anembryonic pregnancies. However, the vast majority of cell-free DNA (cfDNA) in the circulation is maternal in origin. It was initially estimated that cffDNA constitutes around 3% of total cfDNA in maternal plasma, rising to 6% towards term, but recent studies using deep sequencing and digital PCR methods suggest that the concentration may be as high as 19%.

Type
Chapter
Information
Reproductive Genetics , pp. 159 - 172
Publisher: Cambridge University Press
Print publication year: 2009

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

Save book to Kindle

To save this book to your Kindle, first ensure [email protected] is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×