Implementing Prenatal Diagnosis Based on Cell-Free Fetal DNA: Accurate Identification of Factors Affecting Fetal DNA Yield

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Implementing Prenatal Diagnosis Based on Cell-Free Fetal DNA: Accurate Identification of Factors Affecting Fetal DNA Yield

OBJECTIVE Cell-free fetal DNA is a source of fetal genetic material that can be used for non-invasive prenatal diagnosis. Usually constituting less than 10% of the total cell free DNA in maternal plasma, the majority is maternal in origin. Optimizing conditions for maximizing yield of cell-free fetal DNA will be crucial for effective implementation of testing. We explore factors influencing yie...

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Cell-free fetal DNA and non-invasive prenatal diagnosis.

Currently in the UK, prenatal diagnosis of genetic conditions and Down’s syndrome requires invasive diagnostic tests such as amniocentesis and chorionic villus sampling (CVS). Procedural related miscarriage rates of about 1% have been quoted for these tests which are not usually done before 11 weeks’ gestation. Annually in the UK, 32 000 women have an invasive diagnostic test as a result of oth...

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Non-invasive prenatal diagnosis of fetal trisomy 21 using cell-free fetal DNA in maternal blood

Since the existence of cell-free fetal DNA (cff-DNA) in maternal circulation was discovered, it has been identified as a promising source of fetal genetic material in the development of reliable methods for non-invasive prenatal diagnosis (NIPD) of fetal trisomy 21 (T21). Currently, a prenatal diagnosis of fetal T21 is achieved through invasive techniques, such as chorionic villus sampling or a...

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Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA

OBJECTIVE To improve the prenatal diagnosis of thanatophoric dysplasia by defining the change in fetal size across gestation and the frequency of sonographic features, and developing non-invasive molecular genetic diagnosis based on cell-free fetal DNA (cffDNA) in maternal plasma. METHODS Fetuses with a confirmed diagnosis of thanatophoric dysplasia were ascertained, records reviewed, sonogra...

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Introducing a New and Simple Protocol for Capillary Electrophoresis of Cell Free Fetal Double Stranded DNA

Isolation of cell free fetal DNA (cffDNA) from maternal serum usually leads to very low concentrations of DNA impeding further resolving through conventional methods of electrophoresis. Although several protocols have been described for capillary electrophoresis (CE) of double stranded DNA, they usually need using special polymers or coated capillaries which degrade over time. Herein, we propos...

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ژورنال

عنوان ژورنال: PLoS ONE

سال: 2011

ISSN: 1932-6203

DOI: 10.1371/journal.pone.0025202