ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Comparing the Introduction and Implementation of Noninvasive Prenatal Testing (NIPT) in Japan, the Netherlands, and the United States: An Integrative Review.Prenatal diagnosis · 2025Review
- An Incidental Finding of Gain of a Diminished Chromosome 12 Centromere in an Individual with Lymphocytosis: A Case Report and Clinical Implications in Cytogenetic Testing.Diagnostics (Basel, Switzerland) · 2025Article
- Discordant Prenatal Cell-Free DNA Screening vs. Diagnostic Results of Sex Chromosome Aneuploidies: Implications for Newborn Screening and Genetic Counseling.International journal of neonatal screening · 2024Article
- Never "totally prepared": Support groups on helping families prepare for a child with a genetic condition.Journal of community genetics · 2023Article
- Noninvasive prenatal screening (NIPS) results for participants of the eXtraordinarY babies study: Screening, counseling, diagnosis, and discordance.Journal of genetic counseling · 2023Article
- Cell-Free DNA Screening for Sex Chromosome Abnormalities and Pregnancy Outcomes, 2018-2020: A Retrospective Analysis.Journal of personalized medicine · 2022Article
- Factors Affecting the Fetal Fraction in Noninvasive Prenatal Screening: A Review.Frontiers in pediatrics · 2022Review
- Privacy practices using genetic data from cell-free DNA aneuploidy screening.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Prenatal screening in the era of non-invasive prenatal testing: a Nationwide cross-sectional survey of obstetrician knowledge, attitudes and clinical practice.BMC pregnancy and childbirth · 2020Article
- Assessment of laboratories offering cell-free (cf) DNA screening for Down syndrome: results of the 2018 College of American Pathology External Educational Exercises.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Fetal fraction and noninvasive prenatal testing: What clinicians need to know.Prenatal diagnosis · 2020Review
- Inaccuracies and shortcomings in "Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations".Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Response to Johansen Taber et al.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Quality Assurance of Non-Invasive Prenatal Screening (NIPS) for Fetal Aneuploidy Using Positive Predictive Values as Outcome Measures.Journal of clinical medicine · 2019Article
- Patient Perceptions on the Advancement of Noninvasive Prenatal Testing for Sickle Cell Disease among Black Women in the United States.AJOB empirical bioethicsArticle
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10 authors.
Funding
Abstract
purposeNoninvasive prenatal screening (NIPS) for fetal aneuploidy via cell-free DNA has been commercially available in the United States since 2011. In 2016, the American College of Medical Genetics and Genomics (ACMG) issued a position statement with specific recommendations for testing laboratories. We sought to evaluate adherence to these recommendations.
methodsWe focused on commercial laboratories performing NIPS testing in the United States as of 1 January 2018. Sample laboratory reports and other materials were scored for compliance with ACMG recommendations. Variables scored for common and sex chromosome aneuploidy detection included detection rate, specificity, positive and negative predictive value, and fetal fraction. Labs that performed analysis of copy-number variants and results for aneuploidies other than those commonly reported were identified. Available patient education materials were similarly evaluated.
resultsNine of 10 companies reported fetal fraction in their reports, and 8 of 10 did not offer screening for autosomal aneuploidies beyond trisomy 13, 18, and 21. There was inconsistency in the application and reporting of other measures recommended by ACMG.
conclusionsLaboratories varied in the degree to which they met ACMG position statement recommendations. No company adhered to all laboratory guidance.
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