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Nicholas Lench, Angela Barrett, Sarah Fielding, Fiona McKay, Melissa Hill, Lucy Jenkins, Helen White and Lyn S. Chitty The clinical implementation of non-invasive prenatal diagnosis for single-gene disorders: challenges and progress made Prenatal Diagnosis 33

Version of Record online: 17 MAY 2013 | DOI: 10.1002/pd.4124

What's already known about this topic?

  • Non-invasive prenatal testing of cell-free fetal DNA in maternal plasma is widely used for aneuploidy detection, fetal RHD typing and fetal sex determination in pregnancies at high risk of sex-linked disorders.

What does this study add?

  • We describe the current limited use of cell-free fetal DNA analysis for prenatal diagnosis of single-gene disorders and discuss the application of new technologies to aid implementation.

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