Noninvasive fetal genome sequencing: a primer

Snyder, Matthew W.; Simmons, LaVone E.; Kitzman, Jacob O.; Santillan, Donna A.; Santillan, Mark K.; Gammill, Hilary S.; Shendure, Jay

doi:10.1002/pd.4097

Cited by 36 publications

(28 citation statements)

References 47 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Studies have shown that it is now possible to conduct a genome-wide analysis of fetal DNA to diagnose genetic disorders prenatally in a non-invasive way [52][53][54]. This would, in theory, make it possible to conduct multiple genetic tests concurrently with a single non-invasive test.…”

Section: Genome-wide Sequencingmentioning

confidence: 97%

Societal Aspects: Ethics

Lewis

Chitty

2014

Advances in Predictive, Preventive and Personalised Medicine

View full text Add to dashboard Cite

Non-invasive techniques to diagnose genetic disease have advanced rapidly in recent years and include prenatal diagnosis for fetal aneuploidy and single gene disorders, and early screening and diagnosis for people affected by cancer and diabetes. In this chapter we consider some of the key ethical issues arising as a result of this new technology. We highlight how non-invasive testing offers a number of significant benefits to patients including safe and early testing. Issues that have been raised as concerns include the erosion of informed decision-making, pressure to test, testing for non-medical reasons or for information only and the broader societal impact that the widespread introduction of non-invasive testing may have. These are issues that should be considered when developing practice guidelines.

show abstract

Section: Genome-wide Sequencingmentioning

confidence: 97%

Societal Aspects: Ethics

Lewis

Chitty

2014

Advances in Predictive, Preventive and Personalised Medicine

View full text Add to dashboard Cite

show abstract

“…Large studies are needed to explore the possibility whether the addition of the cheap PAPP-A 1st trimester screening (without NT) to NIPT could obliterate the need for a definite diagnosis with karyotype in either negative or positive results. NIPT technology is perhaps only a few steps away from an eventual whole genome (or whole exome) fetal sequencing from non-invasively isolated ccffDNA [79]. Where or if it becomes possible to do whole fetal genome analysis in a clinical setting routinely, it will open up the possibility that people can get information about the fetus that is well beyond a handful of fetal conditions, such as trisomies.…”

Section: Discussionmentioning

confidence: 99%

Non-invasive prenatal testing (NIPT): limitations on the way to become diagnosis

Kotsopoulou¹,

Tsoplou²,

Mavrommatis

et al. 2015

Diagnosis

View full text Add to dashboard Cite

With the discovery of existing circulating cellfree fetal DNA (ccffDNA) in maternal plasma and the advent of next-generation sequencing (NGS) technology, there is substantial hope that prenatal diagnosis will become a predominately non-invasive process in the future. At the moment, non-invasive prenatal testing (NIPT) is available for high-risk pregnancies with significant better sensitivity and specificity than the other existing non-invasive methods (biochemical and ultrasonographical). Mainly it is performed by NGS methods in a few commercial labs worldwide. However, it is expected that many other labs will offer analogous services in the future in this fastgrowing field with a multiplicity of in-house methods (e.g., epigenetic, etc.). Due to various limitations of the available methods and technologies that are explained in detail in this manuscript, NIPT has not become diagnostic yet and women may still need to undergo risky invasive procedures to verify a positive finding or to secure (or even expand) a negative one. Efforts have already started to make the NIPT technologies more accurate (even at the level of a complete fetal genome) and cheaper and thus more affordable, in order to become diagnostic screening tests for all pregnancies in the near future.

show abstract

“…Trophoblasts were the first fetal cell type to be detected in the maternal circulation [46]. However, there are some potential disadvantages when used for NIPD.…”

Section: Type and Number Of Fetal Cells In The Maternal Circulationmentioning

confidence: 99%

Cell-free DNA versus intact fetal cells for prenatal genetic diagnostics: what does the future hold?

Wou

Feinberg

Wapner

et al. 2015

Expert Review of Molecular Diagnostics

View full text Add to dashboard Cite

Prenatal screening and diagnosis is currently focused on the development of a noninvasive prenatal diagnostic test capable of detecting abnormalities similar to those attainable with an invasive test. One contender is cell-free fetal DNA circulating in maternal plasma and the other is intact fetal cells either from the maternal blood or the cervix. Once adequate fetal DNA is available, laboratory analytic techniques, such as sequencing and microarray, can be applied allowing detection of most cytogenetic and Mendelian fetal disorders. The question is: how close are we to achieving this feat, and what does the future hold?

show abstract

Noninvasive fetal genome sequencing: a primer

Cited by 36 publications

References 47 publications

Societal Aspects: Ethics

Societal Aspects: Ethics

Non-invasive prenatal testing (NIPT): limitations on the way to become diagnosis

Cell-free DNA versus intact fetal cells for prenatal genetic diagnostics: what does the future hold?

Contact Info

Product

Resources

About