Understanding the psychological impact of identifying carrier status on young adults: A qualitative study exploring peer reactions
Sign Up to like & getrecommendations! Published in 2024 at "Journal of Genetic Counseling"
DOI: 10.1002/jgc4.1903
Abstract: The benefits and harms of identifying carriers in childhood have long been debated with European Guidelines advising against this practice. Yet over a thousand carriers are identified via newborn bloodspot screening per year in the… read more here.
Keywords: young adults; carrier; carrier status; impact ... See more keywords
Mapping allele with resolved carrier status of Robertsonian and reciprocal translocation in human preimplantation embryos
Sign Up to like & getrecommendations! Published in 2019 at "Reproductive BioMedicine Online"
DOI: 10.1016/j.rbmo.2019.03.073
Abstract: Introduction Reciprocal translocations (RecT) and Robertsonian translocations (RobT) are among the most common chromosomal abnormalities that cause infertility and birth defects. Preimplantation genetic testing for aneuploidy using comprehensive chromosome screening for in vitro fertilization enables… read more here.
Keywords: translocation; embryos; carrier; carrier status ... See more keywords
Correlations between maternal hepatitis B virus carrier status and Down’s syndrome prenatal screening indicators and their effects on the screening results
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Obstetrics and Gynaecology"
DOI: 10.1080/01443615.2022.2109409
Abstract: Abstract The aim of this study was to determine the correlation between maternal hepatitis B virus (HBV) carrier status and pregnancy-associated serum screening indicators, as well as their implications on the prenatal screening results of… read more here.
Keywords: hbv carrier; carrier; hbv; carrier status ... See more keywords
Improved HUMARA for the Detection of X-Linked Agammaglobulinemia Carriers.
Sign Up to like & getrecommendations! Published in 2022 at "Genetic testing and molecular biomarkers"
DOI: 10.1089/gtmb.2021.0139
Abstract: Background: Fragment analysis of exon 1 of the human androgen receptor, known as HUMARA, is a polymerase chain reaction (PCR)-based method for detecting X-linked agammaglobulinemia (XLA) carriers. This method takes advantage of X-chromosome inactivation (XCI)… read more here.
Keywords: improved humara; humara detection; xci; carrier ... See more keywords
Newborn Genetic Screening Revealed Increased Levels of Biochemical Indicators in Carriers of Heterozygous Variants.
Sign Up to like & getrecommendations! Published in 2022 at "Genetic testing and molecular biomarkers"
DOI: 10.1089/gtmb.2022.0100
Abstract: Background: Conventional newborn screening (NBS) is usually based on biochemical methods to predict the risk of inborn errors of metabolism. Recent studies have applied next-generation sequencing in NBS and revealed much more information, including carrier… read more here.
Keywords: heterozygous variants; carrier status; carriers heterozygous; heterozygous carriers ... See more keywords
Beyond Carrier Status: CFTR Heterozygosity as an Overlooked Clinical Risk Factor for Pancreatitis
Sign Up to like & getrecommendations! Published in 2025 at "Clinical Genetics"
DOI: 10.1111/cge.14780
Abstract: This study assessed the effect of CFTR pathogenic variant status, detected during prenatal carrier screening, for the incidence and clinical recognition of cystic fibrosis‐related phenotypes. Data were queried from the Vanderbilt University Medical Center clinical… read more here.
Keywords: cftr; carrier; carrier status; pancreatitis ... See more keywords
Identifying hemophilia B carriers: Utility of aPTT, factor IX levels and ratios of factor IX to other Vitamin K dependent factors
Sign Up to like & getrecommendations! Published in 2024 at "Haemophilia"
DOI: 10.1111/hae.15068
Abstract: Diagnosing hemophilia B (HB) carrier status is important to manage bleeding in carriers and to prevent bleeding in potential offspring. Without a family history of hemophilia, diagnosing HB carrier status is challenging. Genetic testing is… read more here.
Keywords: identifying hemophilia; factor; carrier status; hemophilia ... See more keywords
Genetic analysis of carrier status in female members of Japanese hemophilia families
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Thrombosis and Haemostasis"
DOI: 10.1111/jth.15301
Abstract: Genetic characteristics and genetic carrier diagnosis in Japanese hemophilia female carriers have not been evaluated. read more here.
Keywords: carrier status; status female; analysis carrier; japanese hemophilia ... See more keywords
G256(P) What are the preferences for receiving additional and carrier status findings in genomics testing amongst families affected by rare conditions? Findings from the rare disease arm of the 100,000 genomes project at a specialised paediatric centre in the UK
Sign Up to like & getrecommendations! Published in 2019 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2019-rcpch.249
Abstract: Context Patients with certain rare diseases were invited to take part and have their genome sequenced alongside their relatives with the hope of finding the diagnosis as part of the 100,000 Genomes Project (100kGP). Apart… read more here.
Keywords: status findings; carrier status; additional carrier; genomic testing ... See more keywords
Impact of maternal hepatitis B carrier status on congenital abnormalities: a systematic review and meta-analysis
Sign Up to like & getrecommendations! Published in 2023 at "BMJ Open"
DOI: 10.1136/bmjopen-2022-066017
Abstract: Objectives This study aims to explore whether maternal hepatitis B carrier status is associated with an increased risk of congenital abnormalities. Design A systematic review and meta-analysis of observational studies. Data sources PubMed, Embase (Ovid),… read more here.
Keywords: carrier status; maternal hepatitis; congenital abnormalities;
Effect of Apolipoprotein E ɛ4 Carrier Status on Cognitive Response to Acetylcholinesterase Inhibitors in Patients with Alzheimer’s Disease: A Systematic Review and Meta-Analysis
Sign Up to like & getrecommendations! Published in 2018 at "Dementia and Geriatric Cognitive Disorders"
DOI: 10.1159/000490175
Abstract: Background: The apolipoprotein E ɛ4 (APOE ɛ4) genotype is the major genetic risk factor for Alzheimer’s disease (AD). However, its effect on an individual’s response to treatment is less well understood. Many studies have reported… read more here.
Keywords: alzheimer disease; analysis; carrier status; response ... See more keywords