Objective: The utilization of non-invasive prenatal testing (NIPT) and chromosomal microarray (CMA) has significantly altered the options for testing following the diagnosis of an increased nuchal translucency (NT). This study defines the rates of utilization of diagnostic testing in the pre-NIPT, pre-CMA, and post-CMA eras.
Methods: We retrospectively examined NT scans performed in our department from January 2010 to December 2020 and identified all NTs ≥3.0 mm for analysis. We divided our data into three distinct periods (2010-2012, 2013-2016, and 2017-2020) corresponding to our institutional practice shifts in recommending and offering use of NIPT (2013) and CMA (2016), respectively.
Results: 689 patients with NT ≥ 3.0 mm met inclusion criteria in our study, of which 355 (51.5%) individuals underwent diagnostic testing and 334 (48.5%) did not. There was a significant decline in rates of diagnostic testing with NIPT (2013), which has returned to pre-NIPT levels with the availability of microarray.
Conclusions: Since the routine use of CMA (2016), the rates of diagnostic testing for increased NT have returned to pre-NIPT levels. This study validates data suggesting an initial decline in the rates of diagnostic testing following abnormal NT but suggests that the decline may be reversing in the post-CMA era due to a rise in rates of chorionic villus sampling.
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http://dx.doi.org/10.1002/pd.6255 | DOI Listing |
Sci Data
December 2024
Department of Pathology and Laboratory Medicine, Alpert Medical School, Brown University, Providence, RI, 02912, USA.
In the past several years, a few cervical Pap smear datasets have been published for use in clinical training. However, most publicly available datasets consist of pre-segmented single cell images, contain on-image annotations that must be manually edited out, or are prepared using the conventional Pap smear method. Multicellular liquid Pap image datasets are a more accurate reflection of current cervical screening techniques.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Northwestern Mesulam Center for Cognitive Neurology and Alzheimer's Disease, Chicago, Illinois, USA.
The Alzheimer's Association convened a Diagnostic Evaluation, Testing, Counseling and Disclosure Clinical Practice Guideline workgroup to help combat the major global health challenges surrounding the timely detection, accurate diagnosis, and appropriate disclosure of mild cognitive impairment (MCI) or dementia due to Alzheimer's disease (AD) or other diseases that cause these types of cognitive-behavioral disorders. The newly published clinical practice guidelines are proposed as a structured approach to evaluation. The purpose of the present article is to provide a clinical perspective on the use of neuropsychology within the new framework and practice guidelines outlined under the Diagnostic Evaluation, Testing, Counseling and Disclosure of Suspected Alzheimer's Disease and Related Disorders (DETeCD-ADRD) recommendations for primary care and specialty care.
View Article and Find Full Text PDFBMJ Open
December 2024
Graduate Institute of Sport, Leisure and Hospitality Management, National Taiwan Normal University, Taipei, Taiwan.
Objective: Phase angle (PhA) is a prognostic factor for predicting and monitoring geriatric syndromes. However, multiple factors associated with increased PhA values as an outcome remain unclear in the older population. This study aimed to examine the association of socio-demographic, anthropometric and behavioural factors with PhA among older Taiwanese adults.
View Article and Find Full Text PDFBMJ Open
December 2024
Vision and Eye Research Institute, School of Medicine, Anglia Ruskin University, Cambridge, UK.
Objective: This study aims to examine the reduction and subsequent recovery of routine digital screening (RDS) uptake in England from 2018 to 2022, exploring national, regional and individual Diabetic Eye Screening Programme (DESP) levels. The COVID-19 lockdown in most areas of England was from 26 March 2020 to 23 June 2020 (first national lockdown), 5 November 2020 to 2 December 2020 (second national lockdown) and 6 January 2021 to 8 March 2021 (third national lockdown).
Design: Retrospective data analysis.
Am J Kidney Dis
December 2024
Service de Néphrologie, Hémodialyse et Transplantation Rénale, Centre de référence MARHEA, CHRU Brest, Brest, France; Institut de Recherche Expérimentale et Clinique (IREC), UCLouvain, Brussels, Belgium. Electronic address:
Rationale & Objective: Monoallelic predicted Loss-of-Function (pLoF) variants in IFT140 have recently been associated with an autosomal dominant polycystic kidney disease (ADPKD)-like phenotype. This study sought to enhance the characterization of this phenotype.
Study Design: Case series.
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