Innovative method for reducing uninformative calls in non-invasive prenatal testing [PDF]
, 2018 Non-invasive prenatal testing or NIPT is currently among the top researched topic in obstetric care. While the performance of the current state-of-the-art NIPT solutions achieve high sensitivity and specificity, they still struggle with a considerable ...
Budis, Jaroslav +13 more
core +2 more sources
A Female Patient with Down Syndrome and Low-Penetrance Leber's Hereditary Optic Neuropathy. [PDF]
, 2014 We present the case of a 19-year-old female with a history of Down syndrome (DS) who was referred to our neuro-ophthalmology clinic for evaluation of Leber's hereditary optic neuropathy (LHON).
Frousiakis, Starleen E +3 more
core +3 more sources
Single umbilical artery: a continuous dilemma and challenge in obstetric management
Clinical and Experimental Obstetrics & Gynecology, 2021 Background: The single umbilical artery (SUA), an entity with almost unknown etiology, is still subject to discussion regarding its clinical significance, especially when it is an isolated discovery (iSUA).
Oana Sorina Tica +5 more
doaj +1 more source
Patient Perception of Negative Non-Invasive Prenatal Testing Results [PDF]
, 2016 Non-invasive prenatal testing (NIPT) uses cell-free fetal DNA to assess for fetal aneuploidy during pregnancy. NIPT has higher detection rates and positive predictive values than previous methods; however, NIPT is not diagnostic. Studies suggest patients
Wittman, Ann Theresa
core +2 more sources
Serum biochemical parameters in pregnant women with and without fetal chromosomal abnornalities
Фундаментальная и клиническая медицина, 2022 Aim. To analyse the levels of serum beta-human chorionic gonadotropin (β-hCG) and pregnancy-associated plasma protein A (PAPP-A) in pregnant women without fetal chromosomal abnormalities and with fetal trisomy 21 (Down syndrome) or 18 (Edwards syndrome ...
A. N. Volkov +4 more
doaj +1 more source
Prenatal ultrasound screening for fetal anomalies and outcomes in high-risk pregnancies due to maternal HIV infection : a retrospective study [PDF]
, 2013 Objective: To assess the prevalence of prenatal screening and of adverse outcome in high-risk pregnancies due to maternal HIV infection. Study design: The prevalence of prenatal screening in 330 pregnancies of HIV-positive women attending the ...
Buxmann, Horst +6 more
core +2 more sources
A Unified Framework for Statistical Inference and Power Analysis of Single and Comparative $$ {F}_{\beta } $$ Scores. [PDF]
Stat MedABSTRACT Machine learning and artificial intelligence are increasingly applied to medical diagnostics and clinical decision‐making. To evaluate model performance, the F1$$ {F}_1 $$ score and its generalized form, the Fβ$$ {F}_{\beta } $$ score, are widely used as they balance precision and sensitivity.
Hsu CY, Liu Q, Shyr Y.
europepmc +2 more sources
mSphere of Influence: Considering Complex Mutational Processes That Shape Microbial Virulence
mSphere, 2019 Matt Anderson works in the field of genetics and infectious disease, with a focus on the human fungal pathogen Candida albicans. In this mSphere of Influence article, he reflects on how two papers, “Gene Flow Contributes to Diversification of the Major ...
Matthew Zack Anderson
doaj +1 more source
Innovative Application of a Microlaryngeal Surgery Tube for difficult Airway Management in a Case of Down’s Syndrome [PDF]
Journal of Clinical and Diagnostic Research, 2016 An 11-year-old male child, known case of down’s syndrome with congenital oesophageal stricture was posted for oesophageal dilatation. Preoperative airway assessment revealed a high arched palate, receding mandible and Mallampati Score of 2.
Michell Gulabani +4 more
doaj +1 more source
Errors in chromosome segregation during oogenesis and early embryogenesis [PDF]
, 2010 Errors in chromosome segregation occurring during human oogenesis and early embryogenesis are very common. Meiotic chromosome development during oogenesis is subdivided into three distinct phases.
A Dyban +65 more
core +1 more source