Cargando…

Performance of a targeted cell‐free DNA prenatal test for 22q11.2 deletion in a large clinical cohort

OBJECTIVE: 22q11.2 deletion is more common than trisomies 18 and 13 combined, yet no routine approach to prenatal screening for this microdeletion has been established. This study evaluated the clinical sensitivity and specificity of a targeted cell‐free DNA (cfDNA) test to screen for fetal 22q11.2...

Descripción completa

Detalles Bibliográficos
Autores principales:	Bevilacqua, E., Jani, J. C., Chaoui, R., Suk, E.‐K. A., Palma‐Dias, R., Ko, T.‐M., Warsof, S., Stokowski, R., Jones, K. J., Grati, F. R., Schmid, M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons, Ltd. 2021
Materias:	Original Papers
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8518527/ https://www.ncbi.nlm.nih.gov/pubmed/34090308 http://dx.doi.org/10.1002/uog.23699

Ejemplares similares

Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions
por: Blagowidow, Natalie, et al.
Publicado: (2023)

Adult Height, 22q11.2 Deletion Extent, and Short Stature in 22q11.2 Deletion Syndrome
por: Heung, Tracy, et al.
Publicado: (2022)

Variety of prenatally diagnosed congenital heart disease in 22q11.2 deletion syndrome
por: Lee, Mi-Young, et al.
Publicado: (2014)

Obesity in adults with 22q11.2 deletion syndrome
por: Voll, S, et al.
Publicado: (2016)

Disrupted anatomic networks in the 22q11.2 deletion syndrome
por: Schmitt, J. Eric, et al.
Publicado: (2016)

Clinical experience with single‐nucleotide polymorphism‐based non‐invasive prenatal screening for 22q11.2 deletion syndrome
por: Gross, S. J., et al.
Publicado: (2016)

Evaluation of 22q11.2 deletion in Cleft Palate patients
por: Prabodha, L. B. Lahiru, et al.
Publicado: (2012)

Disrupted working memory circuitry and psychotic symptoms in 22q11.2 deletion syndrome()
por: Montojo, C.A., et al.
Publicado: (2014)

Hematological abnormalities and 22q11.2 deletion syndrome
por: Rosa, Rafael Fabiano Machado, et al.
Publicado: (2011)

Risk of malignancy in 22q11.2 deletion syndrome
por: Stevens, Toer, et al.
Publicado: (2017)

The Genetics and Epigenetics of 22q11.2 Deletion Syndrome
por: Du, Qiumei, et al.
Publicado: (2020)

Complement Activation in 22q11.2 Deletion Syndrome
por: Grinde, Dina, et al.
Publicado: (2020)

Laryngeal web with 22q11.2 deletion syndrome
por: Abe, Yasuhiro, et al.
Publicado: (2022)

Tonsillectomy in Children with 22q11.2 Deletion Syndrome
por: Arganbright, Jill M., et al.
Publicado: (2022)

22q11.2 Deletion and Duplication Syndromes and COVID-19
por: Crowley, T. Blaine, et al.
Publicado: (2022)

Psychotic Features as the First Manifestation of 22q11.2 Deletion Syndrome
por: Kook, So Dahm, et al.
Publicado: (2010)

Otologic and audiologic findings in 22q11.2 deletion syndrome
por: Verheij, E., et al.
Publicado: (2016)

Pediatric healthcare costs for patients with 22q11.2 deletion syndrome
por: Benn, Peter, et al.
Publicado: (2017)

Candidate modifier genes for immune function in 22q11.2 deletion syndrome
por: Pinnaro, Catherina T., et al.
Publicado: (2019)

Clinical Course and Outcome of Prenatally Detected 22q11.2 Deletion Syndrome—A Retrospective Analysis
por: Paternostro, Chiara, et al.
Publicado: (2023)

Shyness discriminates between children with 22q11.2 deletion syndrome and Williams syndrome and predicts emergence of psychosis in 22q11.2 deletion syndrome
por: Schonherz, Yael, et al.
Publicado: (2014)

Emergent, remitted and persistent psychosis-spectrum symptoms in 22q11.2 deletion syndrome
por: Tang, S X, et al.
Publicado: (2017)

Prenatal diagnosis of rearrangements in the fetal 22q11.2 region
por: Li, Suping, et al.
Publicado: (2020)

Platybasia in 22q11.2 Deletion Syndrome Is Not Correlated with Speech Resonance
por: Spruijt, Nicole E, et al.
Publicado: (2014)

Genotype-phenotype correlation in 22q11.2 deletion syndrome
por: Michaelovsky, Elena, et al.
Publicado: (2012)

Psychopathology and cognition in children with 22q11.2 deletion syndrome
por: Niarchou, Maria, et al.
Publicado: (2014)

Psychiatric Disorders Associated with 22q11.2 Deletion Syndrome
por: Gambini, Orsola
Publicado: (2016)

Visual processing deficits in 22q11.2 Deletion Syndrome
por: Biria, Marjan, et al.
Publicado: (2017)

Clinical variability of chromosome 22q11.2 deletion syndrome
por: Boyarchuk, Oksana, et al.
Publicado: (2017)

22q11.2 Deletion Syndrome–Associated Parkinson's Disease
por: Boot, Erik, et al.
Publicado: (2018)

Dopaminergic neurons in chromosome 22q11.2 deletion syndrome
por: Inoue, Haruhisa
Publicado: (2021)

Deletion Syndrome 22q11.2: A Systematic Review
por: Cortés-Martín, Jonathan, et al.
Publicado: (2022)

Clinical management of psychosis in 22q11.2 deletion syndrome
por: Iftimovici, Anton, et al.
Publicado: (2022)

Reproductive Outcomes in Adults with 22q11.2 Deletion Syndrome
por: Palmer, Lisa D., et al.
Publicado: (2022)

Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome
por: Bassett, Anne S., et al.
Publicado: (2008)

Abnormalities in gray matter microstructure in young adults with 22q11.2 deletion syndrome
por: Kikinis, Zora, et al.
Publicado: (2018)

Detection of 21q11.2‐q22.11 deletions in a fetus by NIPT
por: Zheng, Yunyun, et al.
Publicado: (2019)

The internet is parents' main source of information about psychiatric manifestations of 22q11.2 deletion syndrome (22q11.2DS)()
por: van den Bree, Marianne B.M., et al.
Publicado: (2013)

Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management
por: Biggs, Sarah E., et al.
Publicado: (2023)

Hearing Loss in a Mouse Model of 22q11.2 Deletion Syndrome
por: Fuchs, Jennifer C., et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_hlrsd3mm0j91ppoqjebuql0506