Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis

Benn, Peter; Borell, Antoni; Chiu, Rossa W.K.; Cuckle, Howard; Dugoff, Lorraine; Faas, Brigitte H. W.; Gross, Susan J.; Johnson, Jo‐Ann; Maymon, Ron; Norton, Mary E.; Odibo, Anthony O.; Schielen, Peter C. J. I.; Spencer, Kevin; Huang, Tianhua; Wright, Dave; Yaron, Yuval

doi:10.1002/pd.4139

Cited by 208 publications

(218 citation statements)

References 27 publications

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“…Clinical utility, measured as PPV and NPV in these studies, supports the earlier ACMG position, and several professional organizations have subsequently altered their positions. [38][39][40] Data from two large studies show that for "low risk women", the PPV for Down syndrome after NIPS was 50-81% (N=55,244) 24,25 , and for "high risk women" this was 94% (N=72,382). 25 NIPS and conventional screening were compared and showed NIPS was superior with regards to PPV (80.9 vs. 3.4%, N=15,841).…”

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

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

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

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

600

560

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“…Moreover, as NIPT comprises many critical steps, specific quality assurance guidelines should be developed [1,3,4,22]. As long as these are lacking, an accreditation according to ISO 15189 is the most appropriate conclusion [1,3] and should remain, even after publication of required guidelines. A successful accreditation as a medical laboratory covers all critical parts which should be considered by a laboratory performing NIPT.…”

Section: Discussionmentioning

confidence: 99%

“…Although NIPT is not regarded as a genetic "test", but as "screening" [2,11], the whole process of isolating and analysing the cffDNA should be carried out in a human molecular genetics laboratory. Therefore, the requirements outlined above apply to NIPT [1,2] (Figure 1).…”

Section: Non-invasive Prenatal Test (Nipt)mentioning

confidence: 99%

“…Subsequently, an estimation of the fetal set of chromosomes with regards to the current tested trisomies (13,18,21) [1,2] could be given. It is superfluous to emphasize the importance of validation for this purpose.…”

Section: Analysis Of Cffdna With Next-generation Sequencing (Ngs)mentioning

confidence: 99%

“…With the appearance of cell-free fetal DNA analysis, the interpretation and implementation of quality assurance parameters such as quality controls and validation has to be made by a molecular genetics laboratory. To harmonize and improve the quality of new methods, best practice guidelines have to be developed over time [1][2][3][4].…”

Section: Introductionmentioning

confidence: 99%

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Quality assurance and standardization in view of non-invasive prenatal testing (NIPT)

Schenk

2016

LaboratoriumsMedizin

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Abstract:The development and utilization of non-invasive prenatal tests have provided new and exciting challenges for quality assurance. Quality managers, scientists and technicians have been faced with the question of appropriate validation and quality controls for these innovative tests. Guidelines on quality assurance and quality control are still lacking and the need is growing inexorably. To integrate non-invasive prenatal tests into existing guidelines, attention must be paid to ISO standard 15189 which describes the requirements for medical laboratories and therefore diagnostic molecular genetics laboratories. Performing the test in an accredited molecular genetics laboratory according to ISO 15189 ensures the adherence to, and compliance with, all important principles. In this article, an overview of quality requirements applied to non-invasive prenatal testing is given from a quality manager's point of view. Keywords

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Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women

Badeau

Lindsay

Blais

et al. 2015

Cochrane Database of Systematic Reviews

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Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis

Cited by 208 publications

References 27 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

Quality assurance and standardization in view of non-invasive prenatal testing (NIPT)

Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women

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