DNA Sequencing Versus Standard Prenatal Aneuploidy Screening

Bianchi, Diana W.; Parker, R; Wentworth, Jeffrey; Madankumar, Rajeevi; Saffer, Craig; Das, Anita; Craig, Joseph A.; Chudova, Darya; Devers, Patricia; Jones, Keith; Oliver, Kelly; Rava, Richard P.; Sehnert, Amy J.

doi:10.1097/01.ogx.0000451481.18231.1b

Cited by 207 publications

(313 citation statements)

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“…Thus, in clinical validation studies, NIPS was shown to outperform conventional screening approaches. [23][24][25] • Clinical utility refers to whether a screening test is reliable and useful to patients. Clinical utility studies inform patients, providers, and payers about decision making.…”

Section: Acmg Statementmentioning

confidence: 99%

“…3 Recent clinical utility trials [23][24][25]37 compared NIPS to conventional screening methods for women at low risk or average risk compared to women at high risk. The DR, SPEC, PPV, and NPV for Patau, Edwards, and Down syndromes were reported.…”

Section: Should Nips Be Offered To All Patients Including Those At Lmentioning

confidence: 99%

“…Similarly, for Patau and Edwards syndromes, the PPVs after NIPS (Patau 33-90%, Edwards 50-70%) 24,25 were superior to those with conventional screening (Patau 14%, Edwards 3.4%) 24 and the NPV was 100% for both conditions. 23,24 High PPV provides benefits to patients by enabling them to more easily weigh the advantages and disadvantages of followup diagnostic testing. Additional benefits of NIPS include earlier implementation with no gap across the gestational age spectrum, unlike conventional screening methods.…”

Section: Should Nips Be Offered To All Patients Including Those At Lmentioning

confidence: 99%

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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

600

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 Statementmentioning

confidence: 99%

Section: Should Nips Be Offered To All Patients Including Those At Lmentioning

confidence: 99%

Section: Should Nips Be Offered To All Patients Including Those At Lmentioning

confidence: 99%

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

600

560

View full text Add to dashboard Cite

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“…Our results appear to be at odds with other studies, considering the nearperfect true-positive rates reported by others. [4][5][6] One possible explanation is that other near-perfect true-positive reports focused on trisomy 13, 18, and 21, while the 9 suspected false positives in our analysis all relate to other chromosomes.…”

Section: Coverage (Supplementarymentioning

confidence: 73%

“…Following these reports, several clinical trials demonstrated more than convincingly the benefit of NIPS over traditional screening in detecting fetal trisomy. [4][5][6] Consequently, next-generation sequencingbased NIPS has been rapidly integrated into prenatal care.…”

Section: Introductionmentioning

confidence: 99%

Informative priors on fetal fraction increase power of the noninvasive prenatal screen

Huang

et al. 2018

Genetics in Medicine

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Purpose: Noninvasive prenatal screening (NIPS) sequences a mixture of the maternal and fetal cell-free DNA. Fetal trisomy can be detected by examining chromosomal dosages estimated from sequencing reads. The traditional method uses the Z-test, which compares a subject against a set of euploid controls, where the information of fetal fraction is not fully utilized. Here we present a Bayesian method that leverages informative priors on the fetal fraction.Method: Our Bayesian method combines the Z-test likelihood and informative priors of the fetal fraction, which are learned from the sex chromosomes, to compute Bayes factors. Bayesian framework can account for nongenetic risk factors through the prior odds, and our method can report individual positive/negative predictive values.Results: Our Bayesian method has more power than the Z-test method. We analyzed 3,405 NIPS samples and spotted at least 9 (of 51) possible Z-test false positives.Conclusion: Bayesian NIPS is more powerful than the Z-test method, is able to account for nongenetic risk factors through prior odds, and can report individual positive/negative predictive values.

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Noninvasive Prenatal Testing Using Cell‐Free Fetal DNA in Maternal Plasma

et al. 2015

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Noninvasive prenatal testing (NIPT) represents an outstanding example of how novel scientific discoveries can be quickly and successfully developed into hugely impactful clinical diagnostic tests. Since the introduction of NIPT to detect trisomy 21 in late 2011, the technology has rapidly advanced to analyze other autosomal and sex chromosome aneuploidies, and now includes the detection of subchromosomal deletion and duplication events. Here we provide a brief overview of how noninvasive prenatal testing using next-generation sequencing is performed.

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DNA Sequencing Versus Standard Prenatal Aneuploidy Screening

Cited by 207 publications

References 0 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

Informative priors on fetal fraction increase power of the noninvasive prenatal screen

Noninvasive Prenatal Testing Using Cell‐Free Fetal DNA in Maternal Plasma

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