Noninvasive Prenatal Diagnosis of Fetal Chromosomal Aneuploidies by Maternal Plasma Nucleic Acid Analysis

Lo, Y.M. Dennis; Chiu, Rossa W.K.

doi:10.1373/clinchem.2007.100016

Cited by 57 publications

(6 citation statements)

References 45 publications

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“…Highly polymorphic microsatellite markers on chromosome 21 were used to discriminate paternally derived and maternally derived fetal genetic traits. However, these methods could not be used for the development of NIPD for aneuploidies since they are laborious and susceptible to contamination from other sources of nucleic acids [66]. …”

Section: Developments In Aneuploidy Detectionmentioning

confidence: 99%

Non-invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications

Papageorgiou

Patsalis

2012

Genome Medicine

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Non-invasive prenatal diagnosis (NIPD) has substantial medical importance as it targets the development of safer and more effective methods to avoid the risk of fetal loss associated with currently used invasive methods. Several approaches have been demonstrated as being proof-of concept for NIPD of chromosomal aneuploidies. These approaches include cell-based and cell-free detection methods, involving the investigation of fetal cells in the maternal circulation, formaldehyde treatment of maternal plasma, DNA methylation studies using sodium bisulfite or restriction enzymes, protein-based studies, identification of fetal-specific mRNAs and digital polymerase chain reaction (PCR) approaches, and recently next-generation sequencing and methylated DNA immunoprecipitation real-time quantitative PCR-based approaches. Although all these NIPD methods have both advantages and limitations, some are moving closer to clinical implementation. Biotechnology companies dedicated to the development of NIPD tests such as the sequencing- or methylation-based approaches are finalizing large clinical trials. It is expected that these new technologies will facilitate safer, more sensitive and accurate prenatal diagnostic tests in the near future. In this review, we highlight the most recent advances in methods for NIPD of aneuploidies, and we discuss their future implications in clinical practice.

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Section: Developments In Aneuploidy Detectionmentioning

confidence: 99%

Non-invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications

Papageorgiou

Patsalis

2012

Genome Medicine

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“…Although the discovery of cffDNA occurred in 1997 (Lo et al, 1997), it took the next ten years to develop the methods that would reliably differentiate between cffDNA and maternal cell-free DNA (Lo and Chiu, 2007, 2008), as fetal DNA represents just 10% of the cell-free DNA found in maternal plasma (Nygren et al, 2010). Numerous studies have used NGS to validate the use of cffDNA for prenatal detection of trisomy 13, 18, 21, and sex chromosome aneuploidies.…”

Section: Genetic Testing Beyond Traditional Cytogeneticsmentioning

confidence: 99%

Expanding diagnostic testing beyond cytogenetics: Implications for birth defects research and surveillance

Jackson

Druschel

Shapira

2013

Birth Defects Research

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“…The possibility of diagnosing aneuploidies with a maternal blood test emerged with the discovery of cell free fetal DNA (cffDNA) in 1997 [2], and in 2008 the first proof-of-principle studies were published showing that non-invasive prenatal testing (NIPT) for aneuploidy was possible using next generation sequencing (NGS) [3,4]. NGS technology has advanced rapidly and NIPT for Down’s syndrome now has detection rates above 99% and false positive rates of 0.1-1% [5-10].…”

Section: Introductionmentioning

confidence: 99%

Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol

Hill

Wright

Daley

et al. 2014

BMC Pregnancy Childbirth

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BackgroundNon-invasive prenatal testing (NIPT) for aneuploidies is now available through commercial companies in many countries, including through private practice in the United Kingdom (UK). Thorough evaluation of service delivery requirements are needed to facilitate NIPT being offered more widely within state funded healthcare systems such as the UK’s National Health Service (NHS). Successful implementation will require the development of laboratory standards, consideration of stakeholder views, an analysis of costs and development of patient and health professional educational materials.Methods/DesignNIPT will be offered in an NHS setting as a contingent screening test. Pregnant woman will be recruited through six maternity units in England and Scotland. Women eligible for Down’s syndrome screening (DSS) will be informed about the study at the time of booking. Women that choose routine DSS will be offered NIPT if they have a screening risk ≥1:1000. NIPT results for trisomy 21, 18, 13 will be reported within 7–10 working days. Data on DSS, NIPT and invasive testing uptake, pregnancy outcomes and test efficacy will be collected. Additional data will be gathered though questionnaires to a) determine acceptability to patients and health professionals, b) evaluate patient and health professional education, c) assess informed choice in women accepting or declining testing and d) gauge family expenses. Qualitative interviews will also be conducted with a sub-set of participating women and health professionals.DiscussionThe results of this study will make a significant contribution to policy decisions around the implementation of NIPT for aneuploidies within the UK NHS. The laboratory standards for testing and reporting, education materials and counselling strategies developed as part of the study are likely to underpin the introduction of NIPT into NHS practice.NIHR Portfolio Number13865

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Noninvasive Prenatal Diagnosis of Fetal Chromosomal Aneuploidies by Maternal Plasma Nucleic Acid Analysis

Cited by 57 publications

References 45 publications

Non-invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications

Non-invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications

Expanding diagnostic testing beyond cytogenetics: Implications for birth defects research and surveillance

Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol

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