Related Experiment Video

Updated: Jul 19, 2026

Forskolin-induced Swelling in Intestinal Organoids: An In Vitro Assay for Assessing Drug Response in Cystic Fibrosis Patients
07:04

Forskolin-induced Swelling in Intestinal Organoids: An In Vitro Assay for Assessing Drug Response in Cystic Fibrosis Patients

Published on: February 11, 2017

Satisfactory screening for cystic fibrosis with the BM meconium procedure

R T Evans, A J Little, A E Steel

    Journal of Clinical Pathology
    |August 1, 1981
    PubMed

    Insights

    The Boehringer Mannheim test screened 15,734 newborns for cystic fibrosis, identifying 7 confirmed cases. This neonatal screening method demonstrates high accuracy with an acceptable false-positive rate, ensuring no cases were missed.

    Area of Science:

    • Neonatal screening
    • Biochemical diagnostics
    • Genetic disease detection

    Background:

    • Cystic fibrosis (CF) is a significant genetic disorder requiring early diagnosis.
    • Newborn screening programs are crucial for timely intervention and improved outcomes.
    • The Boehringer Mannheim (BM) test is a diagnostic tool for CF.

    Purpose of the Study:

    • To evaluate the effectiveness and accuracy of the Boehringer Mannheim (BM) test for neonatal screening of cystic fibrosis.
    • To determine the false-positive rate and sensitivity of the BM test in a large neonatal cohort.

    Main Methods:

    • Centralized testing of 15,734 neonates using the Boehringer Mannheim (BM) test.
    • Follow-up of infants with both weak and strong positive BM test results.
    • Confirmation of disease in positive cases through subsequent diagnostic procedures.

    Main Results:

    • A total of 130 neonates had positive BM test results.
    • Seven of the 130 positive cases were confirmed to have cystic fibrosis.
    • A false-positive rate of 0.83% was observed and deemed acceptable.
    • No cases of cystic fibrosis were missed in the screened population.

    Conclusions:

    • The Boehringer Mannheim (BM) test is a reliable method for neonatal screening of cystic fibrosis.
    • The observed false-positive rate is acceptable for a population-based screening program.
    • Comprehensive follow-up of all positive BM test results, including weak positives, is essential for accurate diagnosis.

    More Related Videos

    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

    Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis05:56

    Implementation of Non-invasive Point of Care Transient Elastography for Evaluation of Liver Disease in Pediatric Populations with Cystic Fibrosis

    Published on: August 29, 2025

    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, but...
    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 sinusitis...
    Serum Laboratory Studies, Stool Test, Breath Test01:30

    Serum Laboratory Studies, Stool Test, Breath Test

    Gastrointestinal (GI) diagnostic studies are pivotal in confirming, ruling out, diagnosing, or staging various diseases, including cancers. Following diagnosis, allocating time for discussions with the patient and providing informational resources is crucial. Diagnostic assessments of the GI tract often occur in outpatient settings like endoscopy suites or GI labs. Preparation for these tests may include dietary restrictions, fasting, liquid bowel preparations, laxatives, enemas, and the...
    Endoscopic Procedures III: Video Capsule Endoscopy01:28

    Endoscopic Procedures III: Video Capsule Endoscopy

    Capsule endoscopy, or wireless or video capsule endoscopy, is a diagnostic procedure for examining the entire gastrointestinal tract. Patients swallow a capsule about the size of a vitamin tablet. The capsule is equipped with a transmitter, a battery, an LED light source, and a color video camera to capture images throughout the gastrointestinal tract. This procedure is particularly useful for diagnosing conditions such as Crohn's disease, ulcerative colitis, tumors, polyps, ulcers, unexplained...
    Urologic Endoscopic Procedure: Cystoscopic Examination01:28

    Urologic Endoscopic Procedure: Cystoscopic Examination

    Meaning of Cystoscopic Examination:Cystoscopy is an essential diagnostic tool in urology that is used to assess the structure and function of the genitourinary system. It provides a direct view of the urethra, bladder, and, in some cases, the ureteral openings. This procedure helps detect structural abnormalities, infections, cancers, and blockages in the urinary tract. There are two types of cystoscopy:Flexible cystoscopy is commonly performed in outpatient settings due to its less invasive...