Cargando…

Comprehensive non-invasive prenatal screening for pregnancies with elevated risks of genetic disorders: protocol for a prospective, multicentre study

INTRODUCTION: Chromosomal abnormalities and monogenic disorders account for ~15%–25% of recognisable birth defects. With limited treatment options, preconception and prenatal screening were developed to reduce the incidence of such disorders. Currently, non-invasive prenatal screening (NIPS) for com...

Descripción completa

Detalles Bibliográficos
Autores principales:	Xu, Chenming, Cai, Xiaoqiang, Chen, Songchang, Luo, Qiong, Xi, Hui, Zhang, Dan, Wang, Hua, Wu, Yanting, Huang, He-Feng, Zhang, Jinglan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2021
Materias:	Diagnostics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8404451/ https://www.ncbi.nlm.nih.gov/pubmed/34452972 http://dx.doi.org/10.1136/bmjopen-2021-053617

Ejemplares similares

Parental mosaicism detection and preimplantation genetic testing in families with multiple transmissions of de novo mutations
por: Xu, Naixin, et al.
Publicado: (2023)

Genetic deconvolution of fetal and maternal cell-free DNA in maternal plasma enables next-generation non-invasive prenatal screening
por: Xu, Chenming, et al.
Publicado: (2022)

Low‐level germline mosaicism of a novel SMARCA2 missense variant: Expanding the phenotypic spectrum and mode of genetic transmission
por: Pan, Nina, et al.
Publicado: (2021)

Protocol for validation of the 4AT, a rapid screening tool for delirium: a multicentre prospective diagnostic test accuracy study
por: Shenkin, Susan D, et al.
Publicado: (2018)

Screening and management of sleep disorders in patients with fibromyalgia syndrome: a French multicentred, prospective, observational study protocol (FIBOBS)
por: Andre, Gilbert, et al.
Publicado: (2022)

Associations of pregnancy-associated plasma protein-A level with essential hypertension and hypertensive disorders in pregnancy in Chinese population: a meta-analysis of 20 research studies involving 3332 individuals
por: Cai, Gaojun, et al.
Publicado: (2015)

Expanding the Scope of Non-invasive Prenatal Testing to Detect Fetal Chromosomal Copy Number Variations
por: Chen, Songchang, et al.
Publicado: (2021)

Deep learning-based carotid plaque vulnerability classification with multicentre contrast-enhanced ultrasound video: a comparative diagnostic study
por: Guang, Yang, et al.
Publicado: (2021)

Prenatal Diagnosis of Microdeletions or Microduplications in the Proximal, Central, and Distal Regions of Chromosome 22q11.2: Ultrasound Findings and Pregnancy Outcome
por: Li, Shuyuan, et al.
Publicado: (2019)

Technical validation of real-world monitoring of gait: a multicentric observational study
por: Mazzà, Claudia, et al.
Publicado: (2021)

Application of Indirect Signs of Magnetic Resonance Imaging (MRI) in Prenatal Diagnosis of Abnormally Invasive Placenta
por: Huang, Fang, et al.
Publicado: (2020)

Feasibility and efficacy of ultrasound in the diagnosis of discoid lateral meniscus and its classification in children: protocol for a prospective, multicentre, diagnostic test study
por: Yang, ShunJie, et al.
Publicado: (2023)

Refinement and validation of a comprehensive clinical diagnostic model (GAMAD) based on gender, age, multitarget circulating tumour DNA methylation signature and commonly used serological biomarkers for early detection of hepatocellular carcinoma: a multicentre, prospective observational study protocol
por: Yang, Tian, et al.
Publicado: (2023)

Study to evaluate the effectiveness and cost-effectiveness of different screening strategies for identifying undiagnosed COPD among residents (≥40 years) in four cities in China: protocol for a multicentre cross-sectional study on behalf of the Breathe Well group
por: Pan, Zihan, et al.
Publicado: (2020)

Bioinformatics analysis of gene expression profile of serous ovarian carcinomas to screen key genes and pathways
por: Fei, Hongjun, et al.
Publicado: (2020)

Technologies for the diagnosis of angle closure glaucoma (ACE): protocol of a prospective, multicentre, cross-sectional diagnostic study
por: Azuara-Blanco, Augusto, et al.
Publicado: (2023)

The Effect of Elevated Alanine Transaminase on Non-invasive Prenatal Screening Failures
por: Chen, Ping, et al.
Publicado: (2022)

Serum endostatin levels are elevated in colorectal cancer and correlate with invasion and systemic inflammatory markers
por: Kantola, T, et al.
Publicado: (2014)

BESPOKE study protocol: a multicentre, prospective observational study to evaluate the impact of circulating tumour DNA guided therapy on patients with colorectal cancer
por: Kasi, Pashtoon Murtaza, et al.
Publicado: (2021)

Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis
por: Joshi, Gaurav, et al.
Publicado: (2023)

Noninvasive fetal genotyping of single nucleotide variants and linkage analysis for prenatal diagnosis of monogenic disorders
por: Wu, Wenman, et al.
Publicado: (2022)

Study protocol for a multicentre comparative diagnostic accuracy study of tools to establish the presence and severity of peripheral arterial disease in people with diabetes mellitus: the DM PAD study
por: Normahani, Pasha, et al.
Publicado: (2022)

Design of the DRAGET Study: a multicentre controlled diagnostic study to assess the detection of acute rejection in patients with heart transplant by means of T(2) quantification with MRI in comparison to myocardial biopsies
por: Bonnemains, Laurent, et al.
Publicado: (2015)

Diagnostic potential of plasma biomarkers and exhaled volatile organic compounds in predicting the different stages of acute mesenteric ischaemia: protocol for a multicentre prospective observational study (TACTIC study)
por: Duivenvoorden, Annet A M, et al.
Publicado: (2023)

Multicentric Castleman's disease: Report of three cases
por: Guazzaroni, M., et al.
Publicado: (2018)

Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children
por: Mestek-Boukhibar, Lamia, et al.
Publicado: (2018)

Soluble C-type lectin-like receptor 2 in stroke (CLECSTRO) study: protocol of a multicentre, prospective cohort of a novel platelet activation marker in acute ischaemic stroke and transient ischaemic attack
por: Uchiyama, Shinichiro, et al.
Publicado: (2023)

A novel non-invasive index using AFP and APTT is associated with liver fibrosis in patients with chronic hepatitis B infection: a retrospective cohort study
por: Feng, Limin, et al.
Publicado: (2015)

Aneuploidy screening by non‐invasive prenatal testing in twin pregnancy
por: Fosler, L., et al.
Publicado: (2017)

Accurate diagnosis of prenatal cleft lip/palate by understanding the embryology
por: Smarius, Bram, et al.
Publicado: (2017)

Long non-coding RNA TCONS_00000200 as a non-invasive biomarker in patients with intracranial aneurysm
por: Wu, Chenghan, et al.
Publicado: (2019)

Do comprehensive deep learning algorithms suffer from hidden stratification? A retrospective study on pneumothorax detection in chest radiography
por: Seah, Jarrel, et al.
Publicado: (2021)

Hypermethylation of multiple genes as clonal markers in multicentric hepatocellular carcinoma
por: Nomoto, S, et al.
Publicado: (2007)

Preimplantation Genetic Testing (PGT) and Prenatal Diagnosis of Schaaf-Yang Syndrome: A Report of Three Families and a Research on Genotype–Phenotype Correlations
por: Xu, Naixin, et al.
Publicado: (2023)

Prevalence and identification of anxiety disorders in pregnancy: the diagnostic accuracy of the two-item Generalised Anxiety Disorder scale (GAD-2)
por: Nath, Selina, et al.
Publicado: (2018)

Factors associated with attendance at screening for breast cancer: a systematic review and meta-analysis
por: Mottram, Rebecca, et al.
Publicado: (2021)

Screening for Atrial Fibrillation using Economical and accurate TechnologY (SAFETY)—a pilot study
por: Lown, Mark, et al.
Publicado: (2017)

Resistance to the mTOR-inhibitor RAD001 elevates integrin α2- and β1-triggered motility, migration and invasion of prostate cancer cells
por: Tsaur, I, et al.
Publicado: (2012)

Comprehensive Evaluation of Non-invasive Prenatal Screening to Detect Fetal Copy Number Variations
por: Wang, Jing, et al.
Publicado: (2021)

Elevated expression of myosin X in tumours contributes to breast cancer aggressiveness and metastasis
por: Cao, R, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_spoqerl9fvarkpr6r1tfhnag58