Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18

Sparks, Andrew B.; Struble, Craig A.; Wang, Eric T.; Song, Kwonsik; Oliphant, Arnold

doi:10.1016/j.ajog.2012.01.030

Cited by 351 publications

(460 citation statements)

References 33 publications

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“…Between 2011 and 2013, there were at least eight widely quoted validation studies spread across four laboratories offering NIPS clinically. [4][5][6][7][8][20][21][22] Validation studies reached similar conclusions. NIPS had very high DR and SPEC, reaching nearly 99% for Down syndrome caused by trisomy 21, translocations, and trisomy 21 mosaicism.…”

Section: Acmg Statementsupporting

confidence: 60%

See 1 more Smart Citation

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

Gregg

Skotko

Benkendorf

et al. 2016

Genetics in Medicine

565

560

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guidelines and statements have assisted patients seeking prenatal screening information and health-care providers responsible for providing accurate and up-to-date information to their patients. [1][2][3] Until recently, noninvasive prenatal screening for aneuploidy relied on measurements of maternal serum analytes and/or ultrasonography. These have a false-positive rate of approximately 5% and detection rates of 50-95%, depending on the specific screening strategy used. Advances in genomic technologies led to noninvasive prenatal screening that relies on the presence of cell-free DNA derived from the placenta but circulating in maternal blood, which is referred to here as noninvasive prenatal screening (NIPS). Massive parallel sequencing of maternal and placental (also called fetal when speaking of the fraction of this DNA in maternal blood) fragments of DNA occurs simultaneously. Sequencing with quantification can be random, targeted, and followed by quantification or exploitation of single-nucleotide polymorphisms. [4][5][6][7][8] Alternatively, sequencing can take place by measuring the release of hydrogen ions as nucleotides are added to a DNA template (i.e., semiconductor sequencing). 9 Microarray technology can also be used to quantify DNA. 10 Bioinformatics that enable these methodologies is complex and proprietary. Since the introduction of NIPS in 2011, health-care providers and patients have experienced marketing pressures, rapidly evolving professional practice guidelines, and confusion regarding the appropriate role of Noninvasive prenatal screening using cell-free DNA (NIPS) has been rapidly integrated into prenatal care since the initial American College of Medical Genetics and Genomics (ACMG) statement in 2013. New evidence strongly suggests that NIPS can replace conventional screening for Patau, Edwards, and Down syndromes across the maternal age spectrum, for a continuum of gestational age beginning at 9-10 weeks, and for patients who are not significantly obese. This statement sets forth a new framework for NIPS that is supported by information from validation and clinical utility studies. Pretest counseling for NIPS remains crucial; however, it needs to go beyond discussions of Patau, Edwards, and Down syndromes. The use of NIPS to include sex chromosome aneuploidy screening and screening for selected copy-number variants (CNVs) is becoming commonplace because there are no other screening options to identify these conditions. Providers should have a more thorough understanding of patient preferences and be able to educate about the current drawbacks of NIPS across the prenatal screening spectrum. Laboratories are encouraged to meet the needs of providers and their patients by delivering meaningful screening reports and to engage in education. With health-care-provider guidance, the patient should be able to make an educated decision about the current use of NIPS and the ramifications of a positive, negative, or no-call result. Genet Med advance online publication 28 July 2016Key Words: cell-f...

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Section: Acmg Statementsupporting

confidence: 60%

“…6,21,44 Data suggest that the lower limit of cell-free fetal DNA for a reliable result is approximately 4%. A no-call may be reported if there is not a sufficient amount of fetal cell-free DNA in the maternal blood sample.…”

Section: How Are No-calls Avoided Interpreted and Managed? Fetal Frmentioning

confidence: 99%

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

Gregg

Skotko

Benkendorf

et al. 2016

Genetics in Medicine

565

560

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show abstract

“…As mentioned earlier, the overall amount of fetal ccffDNA is small ( < 1 μg in 20 mL whole blood) and there are still no reliable routine methods to separate fetal from maternal ccffDNA, precluding fetal ccffDNA isolation prior to analysis [9,[31][32][33]. Thus, detection of fetal chromosomal copy number based on ccffDNA analysis requires polymerase chain reaction (PCR) amplification and analysis of the full (maternal+fetal) ccffDNA complement [21].…”

Section: Available Nipt Techniquesmentioning

confidence: 99%

“…Several recent studies have demonstrated that the most effective screening method for trisomy 21, with a detection rate of more than 99% and false-positive rate of about 0.1%, is derived from examination of cell-free DNA (cf DNA) in maternal plasma [4][5][6][7][8][9][10][11][12][13].…”

Section: Introductionmentioning

confidence: 99%

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

Kotsopoulou¹,

Tsoplou²,

Mavrommatis

et al. 2015

Diagnosis

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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.

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“…All three companies have published validation studies in peer-reviewed journals that coincided with the commercial launch of their tests. [2][3][4] Although there are differences in study design and laboratory methods, each reports similarly high sensitivities and low false-positive rates. These studies were conducted on samples from patients undergoing invasive prenatal diagnosis.…”

mentioning

confidence: 99%

Cell-free fetal DNA testing: who is driving implementation?

Mennuti

2013

Genetics in Medicine

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Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18

Cited by 351 publications

References 33 publications

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

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

Cell-free fetal DNA testing: who is driving implementation?

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