Fetal fraction in maternal plasma cell‐free <scp>DNA</scp> at 11–13 weeks' gestation: relation to maternal and fetal characteristics

Ashoor, Ghalia; Syngelaki, Argyro; Poon, Liona C.; Rezende, Juliana Costa de; Nicolaides, Kypros H.

doi:10.1002/uog.12331

Cited by 360 publications

(367 citation statements)

References 24 publications

(52 reference statements)

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“…23 Prior studies have demonstrated that the fetal fraction is positively correlated with gestational age and negatively correlated with maternal weight. 24,25 These data suggest that NIPT may not be as effective in obese women or may need to be completed at later gestational ages.…”

Section: Discussionmentioning

confidence: 97%

A single center’s experience with noninvasive prenatal testing

Beamon

Hardisty

Harris

et al. 2014

Genetics in Medicine

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Section: Discussionmentioning

confidence: 97%

A single center’s experience with noninvasive prenatal testing

Beamon

Hardisty

Harris

et al. 2014

Genetics in Medicine

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“…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

584

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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“…Fetal fraction decreased with increased maternal weight and was lower in women of Afro-Caribbean origin than Caucasians. Fetal fraction increased with fetal crown-rump length, serum pregnancy-associated plasma protein-A, serum free -human chorionic gonadotropin, smoking, and trisomy 21 karyotype (Ashoor et al, 2013). "Right now, there's not enough evidence to say one way or another whether the test should be used in average-risk women," Dr. Bianchi says.…”

Section: Looking Toward the Futurementioning

confidence: 99%

ACOG approves new trisomy screen for high‐risk pregnancies

2013

American J of Med Genetics Pt A

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Fetal fraction in maternal plasma cell‐free DNA at 11–13 weeks' gestation: relation to maternal and fetal characteristics

Abstract: Objective

Cited by 360 publications

References 24 publications

A single center’s experience with noninvasive prenatal testing

A single center’s experience with noninvasive prenatal testing

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

ACOG approves new trisomy screen for high‐risk pregnancies

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