Buchumschlag

Test performance and clinical utility of expanded non‐invasive prenatal test: Experience on 71,883 unselected routine cases from one single center

Fuente: Wiley Open Access

Gespeichert in:

Bibliographische Detailangaben
Hauptverfasser:	Monica Faieta, Rossella Falcone, Sara Duca, Elena Corsetti, Riccardo Giannico, Laura Gigante, Laura Diano, Graziella Calugi, Francesca Spinella, Francesca Pizzuti
Format:	Artículo Open Access
Veröffentlicht:	Wiley 2024
Schlagworte:	Prenatal Diagnosis
Online-Zugang:	Acceder al recurso
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge

Prevalence of corpus callosum pathology in an unselected population. Should assessment of the corpus callosum be included in the routine 20 weeks scan?
von: Mª Angeles Rodríguez, et al.
Veröffentlicht: (2024)

Use of cell‐free non‐invasive prenatal testing in pregnancies affected by placental mosaicism
von: Ida Charlotte Bay Lund, et al.
Veröffentlicht: (2024)

Associations and outcomes of prenatally detected rhombencephalosynapsis
von: Yada Kunpalin, et al.
Veröffentlicht: (2024)

Telegenetics to provide comprehensive prenatal diagnosis
von: April D. Adams, et al.
Veröffentlicht: (2024)

Improving prenatal diagnosis through standards and aggregation
von: Michael H. Duyzend, et al.
Veröffentlicht: (2024)

Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype
von: Natalie Burrill, et al.
Veröffentlicht: (2024)

Fetal bradycardia in open versus fetoscopic prenatal repair of spina bifida
von: Steven T. Papastefan, et al.
Veröffentlicht: (2024)

Patient experiences with prenatal cell‐free DNA screening in a safety net setting
von: Kirsten A. Riggan, et al.
Veröffentlicht: (2024)

Inconsistencies between prenatal diagnostic and genetic testing laboratories on variant validation of rare monogenic diseases
von: Liling Lin, et al.
Veröffentlicht: (2024)

Has the introduction of increased genetic prenatal testing affected rates of termination of pregnancy due to fetal abnormality?
von: Line Raaby, et al.
Veröffentlicht: (2024)

Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders
von: Christel Thauvin‐Robinet, et al.
Veröffentlicht: (2024)

Knowledge gaps and confidence in counseling about aneuploidy screening and testing: A survey of prenatal care clinicians
von: M. M. Thorsen, et al.
Veröffentlicht: (2024)

Perinatally Accessible Biomarkers of Complex Gastroschisis: Systematic Review and Individual Patient Data Meta‐Analysis
von: Tomohiro Arai, et al.
Veröffentlicht: (2026)

Unbalanced X;Y translocations carrying SRY in prenatal settings: Clinical, molecular, and cytogenetic analysis of three cases
von: Xijing Liu, et al.
Veröffentlicht: (2024)

Association of right aortic arch and agenesis of ductus arteriosus in prenatal tetralogy of Fallot spectrum and its clinical implications
von: Adeline Walter, et al.
Veröffentlicht: (2024)

The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease
von: Emily Zhao, et al.
Veröffentlicht: (2024)

The Fall Out of the 2017 European Medical Device Regulation for Tracheal Occlusion
von: Francesca Russo, et al.
Veröffentlicht: (2025)

Response to the correspondence on “Performance of single‐gene noninvasive prenatal testing for autosomal recessive conditions in a general population setting”
von: Julia Wynn, et al.
Veröffentlicht: (2024)

Pregnant women's informational needs prior to decisions about prenatal diagnosis for chromosomal anomalies—A Q methodological study
von: Ellen Ternby, et al.
Veröffentlicht: (2024)

A capture‐based method of prenatal cell‐free DNA screening for autosomal recessive non‐syndromic hearing loss
von: Qian Mu, et al.
Veröffentlicht: (2024)

The incremental yield of prenatal exome sequencing over chromosome microarray for congenital heart abnormalities: A systematic review and meta‐analysis
von: K. Reilly, et al.
Veröffentlicht: (2024)

Screening Positive for Rare Autosomal Aneuploidies Increases Frequency of Adverse Pregnancy Outcomes and Alters Clinical Management
von: Devika Chawla, et al.
Veröffentlicht: (2025)

Expanding the phenotypic spectrum of MPDZ gene variants: A case report with prenatally detected Dandy–Walker malformation and single ventricle heart
von: Anđela Stanković, et al.
Veröffentlicht: (2024)

Hydrops, Arthrogryposis, and Cerebellar Hypoplasia in a Fetus With a de Novo BICD2 Variant: Expanding the Prenatal Phenotype of SMALED2B
von: Francesca Romana Lepri, et al.
Veröffentlicht: (2025)

Obstetric imaging practice characteristics associated with prenatal detection of critical congenital heart disease in a rural US region over 20 years
von: Kelley C. McLean, et al.
Veröffentlicht: (2024)

Clinical experience of next generation sequencing based expanded carrier screening in high‐risk couples from a tertiary healthcare center in Pakistan
von: Fizza Akbar, et al.
Veröffentlicht: (2024)

High positive predictive value 22q11.2 microdeletion screening by prenatal cell‐free DNA testing that incorporates fetal fraction amplification
von: Carly Hammer, et al.
Veröffentlicht: (2024)

Management of fetal head and neck masses: Evaluation of prenatal factors associated with airway obstruction and decision for definitive airway and ex‐utero intrapartum treatment at birth
von: Nicholas Schmoke, et al.
Veröffentlicht: (2024)

Perspectives of pregnant women on broadening the scope of noninvasive prenatal testing from screening for foetal aneuploidies to prediction of adverse pregnancy outcomes: A qualitative study
von: Ellis C. Becking, et al.
Veröffentlicht: (2024)

Proposal for standardized prenatal assessment of fetal open dysraphisms by the European reference network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies (ITHACA) and eUROGEN
von: Lucie Guilbaud, et al.
Veröffentlicht: (2024)

Parental Management Choices and Discordant Ultrasound Findings in Referrals for Fetal Spina Bifida
von: Emma Van den Eede, et al.
Veröffentlicht: (2024)

Amniocentesis and Risk of Fetal Loss in Dichorionic‐Diamniotic Twin Pregnancy: A Case‐Control Study
von: Sofia Roero, et al.
Veröffentlicht: (2025)

The Role of Prenatal Ultrasound and Added Value of Post‐Mortem Radiographic Imaging With X‐Ray and CT in Suspected Fetal Skeletal Dysplasia
von: Katri Rajala, et al.
Veröffentlicht: (2024)

Improving the Performance of Prenatal Cell‐Free DNA Screening Through Size‐Selective Fetal DNA Enrichment in a Cohort of 71,986 General and High‐Risk Pregnancies
von: Liang Hu, et al.
Veröffentlicht: (2025)

Is there an increased risk of genetic abnormalities in fetuses with congenital heart disease in the setting of growth restriction?
von: Kathleen Gianforcaro, et al.
Veröffentlicht: (2024)

Advances and Challenges in Prenatal Detection and Genetic Diagnosis of Upper Limb Anomalies: Analysis of a South London and Kent Cohort
von: Federica Ruscitti, et al.
Veröffentlicht: (2024)

Prenatal Evaluation of Scrotal Masses: A Systematic Literature Review
von: Federica Romanzi, et al.
Veröffentlicht: (2025)

Cytogenetic and Microarray Analysis Follow‐Up of PGT‐A Mosaic and Sex Discrepant Embryos During Pregnancy: Absence of Confirmation and Follow‐Up Recommendations
von: Laura A. Kline, et al.
Veröffentlicht: (2026)

Cell‐Free DNA Results Indicating Mosaic Monosomy X of Likely Maternal Origin: Impact on Genetic Counseling Practices and Patient Experiences
von: Audrey McBride, et al.
Veröffentlicht: (2025)

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists
von: Victoria Ardiles‐Ruesjas, et al.
Veröffentlicht: (2026)