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RECENT DEVELOPMENTS IN NON-INVASIVE PRENATAL DIAGNOSIS AND TESTING

Published online by Cambridge University Press:  24 June 2016

SUZANNE DRURY ,
MELISSA HILL  and
LYN S CHITTY
SUZANNE DRURY
Affiliation:
North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK Genetics and Genomic Medicine, UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
MELISSA HILL
Affiliation:
North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK Genetics and Genomic Medicine, UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
LYN S CHITTY*
Affiliation:
North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK Fetal Medicine Unit, University College London Hospitals NHS Foundation Trust, London, UK
*
Professor Lyn Chitty, North East Thames Regional Genetics Service, Level 5, York House, 37 Queen Square, London WC1N 3BH, UK. Email: [email protected]
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Extract

The ability to obtain fetal material that could be used for prenatal genetic diagnosis without requirement for an invasive test was a watershed moment in antenatal care. Cell-free fetal DNA (cffDNA) was identified in the maternal plasma by Lo and colleagues in 19971 and despite being technically challenging, non-invasive tests for fetal sex determination, fetal rhesus D (RHD) genotyping, some single gene disorders and the major aneuploidies are now being offered in clinical practice throughout the world2 . Progress continues at pace and recent developments in next generation sequencing (NGS) are driving significant advances in research and in the clinical application of non-invasive prenatal testing (NIPT) and diagnosis (NIPD) (Table 1).

Type
Review Article
Information
Fetal and Maternal Medicine Review , Volume 25 , Issue 3-4 , November 2014 , pp. 295 - 317
Copyright
Copyright © Cambridge University Press 2016 

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References

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