scholarly journals Newborn Screening Saves Lives but Cannot Replace the Need for Clinical Vigilance

2018 ◽  
Vol 2018 ◽  
pp. 1-4 ◽  
Author(s):  
F. Neemuchwala ◽  
M. Taki ◽  
E. Secord ◽  
S. Z. Nasr
Keyword(s):  
Newborn Screening ◽  
False Negative ◽  
Delayed Diagnosis ◽  
Young Male ◽  
Lung Damage ◽  
Poor Growth ◽  
Negative Results ◽  
False Negative Results ◽  
Newborn Screen ◽  
Diffuse Lung

Newborn screening for cystic fibrosis (CF) enables early diagnosis and treatment leading to improved health outcomes for patients with CF. Although the sensitivity of newborn screening is high, false-negative results can still occur which can be misleading if clinicians are not aware of the clinical presentation of CF. We present a case of a young male with negative newborn screen diagnosed for CF. He was diagnosed at 3 years of age despite having symptoms indicative of CF since infancy. The delayed diagnosis resulted in diffuse lung damage and poor growth.

Difficulties in diagnosing vertebral osteomyelitis in a child

2021 ◽  
Vol 14 (1) ◽  
pp. e236037
Author(s):  
Jonathan Holzmann ◽  
Sunday Pam ◽  
Geoffrey Clark
Keyword(s):  
False Negative ◽  
Vertebral Osteomyelitis ◽  
Delayed Diagnosis ◽  
Abdominal Ultrasound ◽  
Clinical Suspicion ◽  
Thoracic Vertebrae ◽  
Negative Results ◽  
False Negative Results ◽  
The Face ◽  
Initial Imaging

Vertebral osteomyelitis is a rare diagnosis and often delayed diagnosis in children. This is a case of a child presenting with fever, back pain and raised C reactive protein who was found to have a Staphylococcus aureus (S.aureus) bacteraemia. Initial imaging with CT, MRI of the spine and abdominal ultrasound failed to demonstrate a vertebral osteomyelitis or identify another source of the bacteraemia. Due to the high clinical suspicion of a spinal source of the infection, second-line investigations were arranged. A bone scan identified an area of increase metabolic activity in the 12th thoracic vertebrae (T12) and subsequently a diagnosis was confirmed with a focused MRI of T12. This serves as an opportunity to discuss the diagnostic difficulty presented by paediatric vertebral osteomyelitis and more generally the need for clinicians to pursue their clinical suspicion in the face of false negative results to make an accurate and timely diagnosis.

scholarly journals P046 Cystic fibrosis newborn screening (CF NBS) in the Czech Republic: analysis of the false negative results

2019 ◽  
Vol 18 ◽  
pp. S70
Author(s):  
A. Holubová ◽  
R. Gaillyová ◽  
V. Skalická ◽  
H. Vinohradská ◽  
M. Hedelová ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Czech Republic ◽  
Newborn Screening ◽  
False Negative ◽  
The Czech Republic ◽  
Negative Results ◽  
False Negative Results

Neonatal Screening for Phenylketonuria

PEDIATRICS ◽  
1984 ◽  
Vol 73 (5) ◽  
pp. 739-740
Author(s):  
EDWARD R. B. MCCABE ◽  
LINDA MCCABE
Keyword(s):  
Newborn Screening ◽  
Neonatal Screening ◽  
False Negative ◽  
Negative Results ◽  
False Negative Results ◽  
Made In

In Reply.— The comments of Koch and Twelmeyer and of Berlow are appreciated as they allow us to reemphasize points made in our recent article1 on newborn screening for phenylketonuria (PKU) and permit us to address additional relevant issues. Koch and Twelmeyer have stated that "only two of the 26 countries reported false-negative results involving the Guthrie test" and therefore these false-negative results "could be treated as outliers" affecting "the conclusion reached as a result of this survey."

scholarly journals Clinical complications in children with false-negative results in cystic fibrosis newborn screening

2021 ◽  
Author(s):  
Katarzyna Zybert ◽  
Urszula Borawska-Kowalczyk ◽  
Lukasz Wozniacki ◽  
Malwina Dawidziuk ◽  
Mariusz Ołtarzewski ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
False Negative ◽  
Negative Results ◽  
Clinical Complications ◽  
False Negative Results

P020 False-negative results of the cystic fibrosis newborn screening in Russia

2020 ◽  
Vol 19 ◽  
pp. S60
Author(s):  
V. Sherman ◽  
E. Kondratyeva ◽  
S. Kutsev ◽  
M. Starinova ◽  
R. Budzinskiy ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
False Negative ◽  
Negative Results ◽  
False Negative Results

Identifying Non–Duchenne Muscular Dystrophy–Positive and False Negative Results in Prior Duchenne Muscular Dystrophy Newborn Screening Programs

2016 ◽  
Vol 73 (1) ◽  
pp. 111 ◽  
Author(s):  
Michele A. Gatheridge ◽  
Jennifer M. Kwon ◽  
Jerry M. Mendell ◽  
Günter Scheuerbrandt ◽  
Stuart J. Moat ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Newborn Screening ◽  
False Negative ◽  
Screening Programs ◽  
Negative Results ◽  
False Negative Results

Critical Evaluation of Impedance Phlebography for the Diagnosis of Deep Vein Thrombosis

1974 ◽  
Vol 31 (02) ◽  
pp. 273-278
Author(s):  
Kenneth K Wu ◽  
John C Hoak ◽  
Robert W Barnes ◽  
Stuart L Frankel
Keyword(s):  
Deep Vein Thrombosis ◽  
False Positive ◽  
False Negative ◽  
Critical Evaluation ◽  
Original Method ◽  
Vein Thrombosis ◽  
Negative Results ◽  
False Negative Results ◽  
Deep Vein ◽  
Positive Results

SummaryIn order to evaluate its daily variability and reliability, impedance phlebography was performed daily or on alternate days on 61 patients with deep vein thrombosis, of whom 47 also had 125I-fibrinogen uptake tests and 22 had radiographic venography. The results showed that impedance phlebography was highly variable and poorly reliable. False positive results were noted in 8 limbs (18%) and false negative results in 3 limbs (7%). Despite its being simple, rapid and noninvasive, its clinical usefulness is doubtful when performed according to the original method.

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