Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations

Skotko, Brian G.; Allyse, Megan; Bajaj, Komal; Best, Robert G.; Klugman, Susan; W.Leach, Mark; Meredith, Stephanie; Michie, Marsha; Stoll, Katie; Gregg, Anthony R.

doi:10.1038/s41436-019-0485-2

Cited by 31 publications

(18 citation statements)

References 16 publications

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“…Currently, expanded NIPS is not recommended by professional societies (Table S5) [28][29][30][31][32][33][34] . However, a study on the adherence of laboratories performing NIPS to the ACMG statements showed that 2 of 10 laboratories in the USA offered NIPS for autosomal aneuploidies beyond the three common trisomies 35 . A recent large cohort study demonstrated that expanded NIPS yielded a high positive predictive value (PPV) for DiGeorge syndrome and a moderate PPV for other microdeletion/microduplication syndromes, while it had an unsatisfactory PPV for rare aneuploidies 17 .…”

Section: Discussionmentioning

confidence: 99%

Clinical utility of expanded non‐invasive prenatal screening and chromosomal microarray analysis in high‐risk pregnancy

Zhu

Chen

Wang

et al. 2021

Ultrasound in Obstet & Gyne

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Objective To evaluate the utility of expanded non‐invasive prenatal screening (NIPS), compared with chromosomal microarray analysis (CMA), for the detection of chromosomal abnormalities in high‐risk pregnancies. Methods This was a multicenter retrospective study of singleton pregnancies at high risk for chromosomal abnormality. Patients who underwent expanded NIPS and CMA sequentially during pregnancy from 2015 to 2019 were included in the analysis. Pregnancies with a positive result for sex chromosome aneuploidy were excluded as the full details could not be retrieved. The utility of expanded NIPS and CMA for detection of chromosomal abnormalities in this cohort was compared by assessing the concordance between the results. Results Of the 774 included high‐risk pregnancies, 550 (71.1%) had a positive NIPS result, while a positive CMA result was detected in 308 (39.8%) cases. The rate of full or partial concordance between NIPS and CMA was 82.2%, 59.6% and 25.0% for trisomies 21, 18 and 13, respectively. For rare aneuploidies and segmental imbalances, NIPS and CMA results were fully or partially concordant in 7.5% and 33.3% of cases, respectively. Copy‐number variants < 5 Mb were detected more often by CMA, with an incidence of 7.9% (61/774) compared with 3.1% (24/774) by NIPS. A genetic aberration was detected by CMA in 1 in 17 (5.8%) high‐risk pregnancies that had a negative or non‐reportable NIPS result. Conclusion CMA allows for comprehensive detection of genome‐wide chromosomal abnormalities in high‐risk pregnancies. CMA should be offered instead of expanded NIPS for high‐risk pregnancies. Copyright © 2020 ISUOG. Published by John Wiley & Sons Ltd.

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Section: Discussionmentioning

confidence: 99%

Clinical utility of expanded non‐invasive prenatal screening and chromosomal microarray analysis in high‐risk pregnancy

Zhu

Chen

Wang

et al. 2021

Ultrasound in Obstet & Gyne

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“…The ACMGG also recommends that all laboratories should specify the reason for a no‐call when reporting noninvasive prenatal screening results. In a recent evaluation of commercial laboratory practices in the United States, 9 of 10 participating companies provided FF in their reports but only five specified a reason for a no‐call result …”

Section: Clinical Laboratory Aspects Of Ffmentioning

confidence: 99%

Fetal fraction and noninvasive prenatal testing: What clinicians need to know

2019

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The fetal fraction (FF) is a function of both biological factors and bioinformatics algorithms used to interpret DNA sequencing results. It is an essential quality control component of noninvasive prenatal testing (NIPT) results. Clinicians need to understand the biological influences on FF to be able to provide optimal post-test counseling and clinical management. There are many different technologies available for the

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“…Positive predictive values (PPV) are considered to be key reporting variables, although specific minimum values for each particular chromosome abnormality have not been defined [6]. In this report, we present summary statistical measures of test performance based on PPV and show how this can be used in quality assessment.…”

Section: Introductionmentioning

confidence: 99%

Quality Assurance of Non-Invasive Prenatal Screening (NIPS) for Fetal Aneuploidy Using Positive Predictive Values as Outcome Measures

DiNonno

Demko

Martin

et al. 2019

JCM

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Non-invasive prenatal screening (NIPS) based on the analysis of cell-free DNA in maternal plasma has been shown to have high sensitivity and specificity. We gathered follow-up information for pregnancies in women with test-positive NIPS results from 2014–2017 with quarterly assessments of positive predictive values (PPVs). A non-inferiority analysis with a minimum requirement of 70%/80% of expected performance for trisomy 21 and 18 was used to ensure testing met expectations. PPVs were evaluated in the context of changes in the population receiving testing. For all quarters, PPVs for trisomies 21 and 18 exceeded the requirement of > 70% of the reference PPV. Overall observed PPVs for trisomy 21, 18, 13 and monosomy X were similar for women aged <35 (90.9%, 95% Confidence Interval (CI) 88.6–92.7%) compared to women with advanced maternal age (94.5%, 95% CI 93.1–95.6%). Despite significant declines in test-positive rates from 1.18% to 0.62% for trisomy 21, and from 0.75% to 0.48% for trisomies 18, 13 and monosomy X combined, PPVs remained stable through the four-year interval. We conclude that quarterly evaluation of PPV provides an overview of past testing and helps demonstrate long-term consistency in test performance, even in the setting of increasing use by women with lower a priori risks.

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Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations

Cited by 31 publications

References 16 publications

Clinical utility of expanded non‐invasive prenatal screening and chromosomal microarray analysis in high‐risk pregnancy

Clinical utility of expanded non‐invasive prenatal screening and chromosomal microarray analysis in high‐risk pregnancy

Fetal fraction and noninvasive prenatal testing: What clinicians need to know

Quality Assurance of Non-Invasive Prenatal Screening (NIPS) for Fetal Aneuploidy Using Positive Predictive Values as Outcome Measures

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