Cargando…

Recommended practice for laboratory reporting of non‐invasive prenatal testing of trisomies 13, 18 and 21: a consensus opinion

OBJECTIVE: Non‐invasive prenatal testing (NIPT) for trisomies 13, 18 and 21 is used worldwide. Laboratory reports should provide clear, concise results with test limitations indicated, yet no national or local guidelines are currently available. Here, we aim to present minimum best practice guidelin...

Descripción completa

Detalles Bibliográficos
Autores principales:	Deans, Zandra C., Allen, Stephanie, Jenkins, Lucy, Khawaja, Farrah, Hastings, Ros J., Mann, Kathy, Patton, Simon J., Sistermans, Erik A., Chitty, Lyn S.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2017
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5525582/ https://www.ncbi.nlm.nih.gov/pubmed/28497584 http://dx.doi.org/10.1002/pd.5068

Ejemplares similares

Ensuring high standards for the delivery of NIPT world‐wide: Development of an international external quality assessment scheme
por: Deans, Zandra C., et al.
Publicado: (2019)

IQN path ASBL report from the first European cfDNA consensus meeting: expert opinion on the minimal requirements for clinical ctDNA testing
por: Deans, Zandra C., et al.
Publicado: (2019)

Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism
por: Huijsdens-van Amsterdam, Karin, et al.
Publicado: (2012)

An efficient method for noninvasive prenatal diagnosis of fetal trisomy 13, trisomy 18, and trisomy 21
por: Sun, Xiaohan, et al.
Publicado: (2019)

One byte at a time: evidencing the quality of clinical service next-generation sequencing for germline and somatic variants
por: Gutowska-Ding, Maria Weronika, et al.
Publicado: (2019)

Non‐invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways
por: Verhoef, Talitha I., et al.
Publicado: (2016)

Non-Invasive Prenatal Testing beyond Trisomies
por: Suciu, Ioan Dumitru, et al.
Publicado: (2019)

Noninvasive Prenatal Diagnosis of Fetal Trisomy 18 and Trisomy 13 by Maternal Plasma DNA Sequencing
por: Chen, Eric Z., et al.
Publicado: (2011)

Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach
por: Chitty, Lyn S, et al.
Publicado: (2015)

The significance of trisomy 7 mosaicism in noninvasive prenatal screening
por: Qi, Yiming, et al.
Publicado: (2019)

Prenatal diagnosis of mosaic trisomy 2 and literature review
por: Wang, Ting, et al.
Publicado: (2020)

Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis
por: Hill, Melissa, et al.
Publicado: (2015)

Maternal prenatal screening programs that predict trisomy 21, trisomy 18, and neural tube defects in offspring
por: Chen, Yiming, et al.
Publicado: (2023)

Non-invasive prenatal diagnosis (NIPD): how analysis of cell-free DNA in maternal plasma has changed prenatal diagnosis for monogenic disorders
por: Hanson, Britt, et al.
Publicado: (2022)

A qualitative study looking at informed choice in the context of non‐invasive prenatal testing for aneuploidy
por: Lewis, Celine, et al.
Publicado: (2016)

RAPIDR: an analysis package for non-invasive prenatal testing of aneuploidy
por: Lo, Kitty K., et al.
Publicado: (2014)

Offering non‐invasive prenatal testing as part of routine clinical service. Can high levels of informed choice be maintained?
por: Lewis, Celine, et al.
Publicado: (2017)

Expression Signature as a Biomarker for Prenatal Diagnosis of Trisomy 21
por: Volk, Marija, et al.
Publicado: (2013)

Prenatal Detection of Trisomy 2: Considerations for Genetic Counseling and Testing
por: Talantova, Olga E., et al.
Publicado: (2023)

Lessons learnt from prenatal exome sequencing
por: Chandler, Natalie J., et al.
Publicado: (2022)

Prenatal diagnosis of a de novo trisomy 20p detected by noninvasive prenatal testing
por: Yan, Xu, et al.
Publicado: (2021)

Development and validation of a measure of informed choice for women undergoing non-invasive prenatal testing for aneuploidy
por: Lewis, Celine, et al.
Publicado: (2016)

Women’s Experiences and Preferences for Service Delivery of Non-Invasive Prenatal Testing for Aneuploidy in a Public Health Setting: A Mixed Methods Study
por: Lewis, Celine, et al.
Publicado: (2016)

Prenatal Isolated Ventricular Septal Defect May Not Be Associated with Trisomy 21
por: Shen, Ori, et al.
Publicado: (2014)

Partial trisomy 9: prenatal diagnosis and recurrence within same family
por: López‐Félix, Jana, et al.
Publicado: (2017)

Non-invasive prenatal test to screen common trisomies in twin pregnancies
por: Motevasselian, Mahtab, et al.
Publicado: (2020)

Noninvasive Prenatal Screening for Trisomy 21 in Patients with a Vanishing Twin
por: Kleinfinger, Pascale, et al.
Publicado: (2022)

Opportunistic genomic screening. Recommendations of the European Society of Human Genetics
por: de Wert, Guido, et al.
Publicado: (2020)

Global Aesthetics Consensus: Avoidance and Management of Complications from Hyaluronic Acid Fillers—Evidence- and Opinion-Based Review and Consensus Recommendations
por: Signorini, Massimo, et al.
Publicado: (2016)

Dose Adjustment of Concomitant Antiseizure Medications During Cenobamate Treatment: Expert Opinion Consensus Recommendations
por: Smith, Michael C., et al.
Publicado: (2022)

Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta‐analysis
por: Mellis, Rhiannon, et al.
Publicado: (2022)

Prenatal screening and diagnosis of genetic abnormalities: SEGO, SEQC(ML), AEDP consensus recommendations
por: Prieto, Belén, et al.
Publicado: (2020)

Prenatal Diagnosis of Bilateral Ectrodactyly and Radial Agenesis Associated with Trisomy 10 Mosaicism
por: Lévy, Jonathan, et al.
Publicado: (2013)

Performance of non-invasive prenatal testing for trisomies 21 and 18 in twin pregnancies
por: Yang, Jiexia, et al.
Publicado: (2018)

Detection of trisomies 13, 18 and 21 using non-invasive prenatal testing
por: Qiang, Rong, et al.
Publicado: (2017)

Prenatal diagnosis of trisomy 8 mosaicism, initially identified by cffDNA screening
por: Hu, Junjie, et al.
Publicado: (2022)

Comparing Non-invasive Prenatal Testing With Invasive Testing for the Detection of Trisomy 21
por: Mokhtar, Rifat, et al.
Publicado: (2022)

Couples experiences of receiving uncertain results following prenatal microarray or exome sequencing: A mixed‐methods systematic review
por: Harding, Eleanor, et al.
Publicado: (2020)

Has noninvasive prenatal testing impacted termination of pregnancy and live birth rates of infants with Down syndrome?
por: Hill, Melissa, et al.
Publicado: (2017)

Challenges in Patients with Trisomy 21: A Review of Current Knowledge and Recommendations
por: Robinson, Jennifer, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_rt5cm6n597suflkj3ctg4ip14j