Related Experiment Video

Updated: Mar 14, 2026

A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
07:24

A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy

2.0K

Sickle cell and cystic fibrosis carrier results

    Nursing Children and Young People
    |October 8, 2016
    PubMed

    Insights

    Newborn screening (NBS) identifies babies with genetic or congenital conditions before symptoms appear. Informed parental consent is mandatory in England for this vital public health program.

    Area of Science:

    • Public Health
    • Genetics
    • Neonatal Care

    Background:

    • Newborn screening (NBS) is a crucial public health initiative.
    • It aims to detect genetic and congenital conditions in infants before clinical manifestation.
    • The UK Newborn Screening Programme Centre oversees these critical early diagnostics.

    Purpose of the Study:

    • To outline the foundational principles of newborn screening.
    • To emphasize the requirement for informed parental consent in England.
    • To highlight the importance of early detection for infant health outcomes.

    Main Methods:

    • Review of established newborn screening protocols.
    • Analysis of informed consent procedures in the UK.
    • Examination of the role of NBS in early diagnosis.

    Main Results:

    • Newborn screening effectively identifies pre-symptomatic infants.
    • Informed consent is a mandatory prerequisite for screening in England.
    • Early identification facilitates timely intervention and management.

    Conclusions:

    • Newborn screening is essential for identifying at-risk infants.
    • Parental consent ensures ethical practice in neonatal diagnostics.
    • Early detection through NBS significantly improves health outcomes for newborns.

    More Related Videos

    Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study08:00

    Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study

    Published on: April 11, 2018

    11.2K
    Rectal Organoid Morphology Analysis ROMA: A Diagnostic Assay in Cystic Fibrosis07:56

    Rectal Organoid Morphology Analysis ROMA: A Diagnostic Assay in Cystic Fibrosis

    Published on: June 10, 2022

    3.3K

    Related Concept Videos

    Cystic Fibrosis: Pathogenesis01:23

    Cystic Fibrosis: Pathogenesis

    Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
    CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
    994
    Cystic Fibrosis: Management01:24

    Cystic Fibrosis: Management

    Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
    Sinus disease and chronic...
    601