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

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."

Download Full-text

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

Case Reports in Pediatrics ◽

10.1155/2018/7217326 ◽

2018 ◽

Vol 2018 ◽

pp. 1-4 ◽

Cited By ~ 1

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.

Download Full-text

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

JAMA Neurology ◽

10.1001/jamaneurol.2015.3537 ◽

2016 ◽

Vol 73 (1) ◽

pp. 111 ◽

Cited By ~ 24

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

Download Full-text

The nitroblue tetrazolium test. An evaluation of the false-positive and false-negative results

Archives of Internal Medicine ◽

10.1001/archinte.133.3.432 ◽

1974 ◽

Vol 133 (3) ◽

pp. 432-436 ◽

Cited By ~ 1

Author(s):

M. E. Campos

Keyword(s):

False Positive ◽

False Negative ◽

Nitroblue Tetrazolium ◽

Negative Results ◽

False Negative Results ◽

Nitroblue Tetrazolium Test ◽

Tetrazolium Test

Download Full-text

False negative results of real time strain elastography in thyroid nodular disease

Ultraschall in der Medizin - European Journal of Ultrasound ◽

10.1055/s-0036-1587848 ◽

2016 ◽

Vol 37 (S 01) ◽

Author(s):

D Stoian ◽

M Craciunescu ◽

M Craina ◽

S Pantea ◽

F Varcus

Keyword(s):

Real Time ◽

False Negative ◽

Strain Elastography ◽

Negative Results ◽

False Negative Results

Download Full-text

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

Thrombosis and Haemostasis ◽

10.1055/s-0038-1649161 ◽

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.

Download Full-text