4.4 Article

Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR

Journal

PRENATAL DIAGNOSIS
Volume 23, Issue 3, Pages 232-234

Publisher

WILEY
DOI: 10.1002/pd.570

Keywords

non-invasive prenatal diagnosis; maternal plasma; fetal DNA; Huntington disease; QF-PCR

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The discovery of fetal DNA in maternal plasma from early pregnancies has led to new opportunities for clinical application. In the last few years there have been numerous reported applications, mainly fetal gender and RhD genotyping. The prenatal diagnosis of some inherited genetic diseases such as Huntington disease is also very frequently required in the prenatal diagnosis routine. We have successfully diagnosed, with a non-invasive procedure, an unaffected HD fetus at the 13th week of gestation using fetal DNA from maternal plasma and the quantitative fluorescent PCR method, which is one of the most sensitive ways to detect fetal DNA in maternal plasma at such an early time of gestation. Copyright (C) 2003 John Wiley Sons, Ltd.

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