Parental Response to Repeat Testing of Infants with `False-Positive' Results in a Newborn Screening Program

PEDIATRICS ◽  
1984 ◽  
Vol 73 (2) ◽  
pp. 183-187
Author(s):  
James R. Sorenson ◽  
Harvey L. Levy ◽  
Thomas W. Mangione ◽  
Stephen J. Sepe
Keyword(s):  
Newborn Screening ◽  
Screening Program ◽  
Testing Procedure ◽  
Sufficient Information ◽  
Test Results ◽  
Initial Test ◽  
Newborn Screening Program ◽  
Repeat Testing ◽  
Repeat Test ◽  
Test Result

Forty-five percent of the parents of 60 infants being retested in a newborn screening program for metabolic disorders understood that their infant was undergoing retesting because the first test result was abnormal. Fifty-five percent had incorrect or incomplete information, believing that retesting was routine, or that mistakes had been made in the original testing procedure, or they report being told nothing specific about the testing. Parents who were aware that the initial test was abnormal were no more anxious or depressed while waiting for the repeat test results than other parents. At a second interview after learning the normal results of the repeat test, both those parents informed of the initial abnormal result as well as those not informed were less anxious and depressed. However, 36% of the parents of these normal infants reported concern about the health of their infant because of the repeat testing. This concern was not related to a parent's knowledge that the initial test result was abnormal, but was greater in parents reporting that they had not received sufficient information about the screening/testing process and its significance for the health of their infant.

Repeat Borderline or Negative Platelet Factor-4 ELISA May Yield Positive Results in Patients with Clinical Suspicion of Heparin-Induced Thrombocytopenia.

Blood ◽  
2005 ◽  
Vol 106 (11) ◽  
pp. 4014-4014
Author(s):  
Meredith A. Lakey ◽  
David W. Arndt ◽  
Marisa B. Marques
Keyword(s):  
Platelet Count ◽  
Positive Result ◽  
Platelet Factor 4 ◽  
Test Results ◽  
Initial Test ◽  
Platelet Factor ◽  
Heparin Induced Thrombocytopenia ◽  
Repeat Testing ◽  
Test Result ◽  
Elisa Result

Abstract Heparin-induced thrombocytopenia (HIT) is mediated by antibodies to heparin-platelet factor 4 (PF4) complexes which lead to platelet activation and aggregation with or without thrombosis. HIT diagnosis relies on clinical and serologic grounds. Although the detection of PF4 antibodies alone is not diagnostic of HIT without thrombocytopenia (relative or absolute) and/or thrombosis, a negative result does not exclude the diagnosis. Thus, it is expected that initially negative ELISAs may turn positive on repeat testing. We reviewed all PF4 ELISA (GTI Diagnostics, Waukesha, WI) assay reports generated at our institution from January 2003 to May 2005 in search of patients who had more than one test performed in this time-period. Of 1,128 tests performed, 181 (16%) were positive, 95 (8%) were borderline, and 852 (76%) were negative. Borderline results were considered those with an OD405 between 0.3 and 0.4 (cutoff value for positive) or two times that of the negative control of each run. No patients were evaluated using the serotonin-release assay. Nine of 70 patients (13%) with initially negative or borderline ELISAs had a positive result upon repeat testing from 2 to 63 days later (Table). All were inpatients, and 6 of 9 were from surgical specialties, mostly cardiac (5 of 6). Five of 8 patients (62.5%) with an initial positive PF4 ELISA result had either a negative or a borderline subsequent test from 7 to 225 days later (Table). The mean platelet count of the patients that had a nondiagnostic ELISA followed by a positive result was 98 x 109/L (N = 9) at the time of the initial test compared with 137 x 109/L at subsequent testing (p = 0.43 by paired Student’s t test). Of note, 2 patients had a normal platelet count when the ELISA result was positive. None had evidence of thrombosis. Borderline test results tended to be repeated sooner (mean of 16 days) than negative ones (mean of 21 days). We suspect that this difference reflects the clinicians’ high index of suspicion for HIT. Our findings suggest that in patients with a high pre-test probability for HIT (status post cardiac surgery with thrombocytopenia), there should be a low threshold for repeating an initial negative or borderline ELISA assay, thereby increasing detection and minimizing complications from this potentially fatal, yet common clinical entity. Test Results of the 78 Patients With Repeat HIT ELISAs. Initial Test Result Repeat Test Result Number of Patients (% of Total) Mean Number of Days Between Tests (Range) NA: Not applicable Negative Positive 7 (13) 17 (2–63) (N=56) Negative 45 (80) 26 (1–216) Borderline 4 (7) 22 (8–36) Borderline Positive 2 (14) 21.5 (10–33) (N=14) Negative 6 (43) 17.5 (3–42) Borderline 6 (43) 9 (1–23) Positive Positive 3 (37.5) 34 (4–88) (N=8) Negative 4 (50) 26 (7–80) Borderline 1 (12.5) 225 (NA) Total 78

scholarly journals Massachusetts’ Findings from Statewide Newborn Screening for Spinal Muscular Atrophy

2021 ◽  
Vol 7 (2) ◽  
pp. 26
Author(s):  
Jaime E. Hale ◽  
Basil T. Darras ◽  
Kathryn J. Swoboda ◽  
Elicia Estrella ◽  
Jin Yun Helen Chen ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Newborn Screening ◽  
New England ◽  
Screening Program ◽  
Muscular Atrophy ◽  
Treatment Options ◽  
Newborn Screening Program ◽  
Treatment Protocols ◽  
Screening Algorithm ◽  
New Treatment

Massachusetts began newborn screening (NBS) for Spinal Muscular Atrophy (SMA) following the availability of new treatment options. The New England Newborn Screening Program developed, validated, and implemented a screening algorithm for the detection of SMA-affected infants who show absent SMN1 Exon 7 by Real-Time™ quantitative PCR (qPCR). We screened 179,467 neonates and identified 9 SMA-affected infants, all of whom were referred to a specialist by day of life 6 (average and median 4 days of life). Another ten SMN1 hybrids were observed but never referred. The nine referred infants who were confirmed to have SMA were entered into treatment protocols. Early data show that some SMA-affected children have remained asymptomatic and are meeting developmental milestones and some have mild to moderate delays. The Massachusetts experience demonstrates that SMA NBS is feasible, can be implemented on a population basis, and helps engage infants for early treatment to maximize benefit.

scholarly journals Incidence and Interrelated Factors in Patients With Congenital Hypothyroidism as Detected by Newborn Screening in Guangxi, China

2015 ◽  
Vol 2 ◽  
pp. 2333794X1456719 ◽  
Author(s):  
Xin Fan ◽  
Shaoke Chen ◽  
Jiale Qian ◽  
Suren Sooranna ◽  
Jingi Luo ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Screening Program ◽  
Thyroid Stimulating Hormone ◽  
Who Guidelines ◽  
Newborn Screening Program ◽  
Study Results ◽  
Stimulating Hormone

Background. A newborn screening program (NSP) for congenital hypothyroidism (CH) was carried out in Guangxi in order to understand the incidence of CH and the factors interrelated to major types of CH in this region of China. Methods. During 2009 to 2013, data from 930 612 newborns attending NSP in Guangxi were collected. Patients were classified with either permanent CH (PCH) or transient CH (TCH) after 2 years of progressive study. Results. A total of 1210 patients were confirmed with CH with an incidence of 1/769, including 68 PCH and 126 TCH cases with incidences of 1/6673 and 1/3385, respectively. The frequency of thyroid stimulating hormone values greater than 5 mIU/L was 7.2%, which, based on WHO guidelines, suggests that the population was mildly iodine deficient. Conclusions. The incidence of CH was high in Guangxi. Approximately two thirds of CH patients were TCH, which may be due to a deficiency in iodine within the population.

APPROACHES TO SCREENING

PEDIATRICS ◽  
1989 ◽  
Vol 83 (5) ◽  
pp. 858-860
Author(s):  
Mary S. Harris ◽  
James R. Eckman
Keyword(s):  
Newborn Screening ◽  
Sickle Cell ◽  
Community Education ◽  
Sickle Cell Trait ◽  
Screening Program ◽  
Tertiary Care ◽  
The State ◽  
Public Health Department ◽  
Newborn Screening Program ◽  
Tertiary Care Centers

Georgia's newborn screening program for hemoglobinopathies has been evolving for more than 23 years. The program began in 1964 with the screening of infants at 6 months of age and progressed to the full-scale implementation of a statewide hemoglobinopathy newborn screening program in 1980. The program functions as a cooperative effort with several major components: two tertiary care centers, a community-based clinic, and the state public health department. The tertiary care centers consist of the Augusta Comprehensive Sickle Cell Center affiliated with the Medical College of Georgia and the Georgia Sickle Cell Center at Grady Hospital affiliated with Emory University School of Medicine. These two centers are responsible for patient care, education, and research. The community component consists of the Sickle Cell Foundation of Georgia, which is responsible for counceling clients with sickle cell trait, community education, and notification of parents of infants with normal test results. The state component consists of the Georgia Department of Human Resources, which is responsible for program administration and primary laboratory testing. The program components coordinate their services through a voluntary organization known as the Georgia Sickle Cell Task Force. The organization consists of representatives from agencies and organizations actively involved in the provision of services for patients with sickle cell disease. The members of this organization work together to ensure an efficient service network for education, testing, counseling, patient management, program monitoring, and evaluation. Georgia's screening program can best be described as a targeted, voluntary, mandatory screening program, which means that, unless the mother objects to having her infant tested on religious grounds, infants in 13 ethnic groups are automatically tested because they are considered at risk (African, Arabian, Central American, Greek, Maltese, Hispanic, Indian, Portuguese, Puerto Rican, Sardinian, Sicilian, South American, and Southern Asian).

scholarly journals Taiwan National Newborn Screening Program by Tandem Mass Spectrometry for Mucopolysaccharidoses Types I, II, and VI

2019 ◽  
Vol 205 ◽  
pp. 176-182 ◽  
Author(s):  
Min-Ju Chan ◽  
Hsuan-Chieh Liao ◽  
Michael H. Gelb ◽  
Chih-Kuang Chuang ◽  
Mei-Ying Liu ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Newborn Screening ◽  
Screening Program ◽  
Tandem Mass ◽  
Newborn Screening Program

scholarly journals Parental intentions to enroll children in a voluntary expanded newborn screening program

2016 ◽  
Vol 166 ◽  
pp. 17-24 ◽  
Author(s):  
Ryan S. Paquin ◽  
Holly L. Peay ◽  
Lisa M. Gehtland ◽  
Megan A. Lewis ◽  
Donald B. Bailey
Keyword(s):  
Newborn Screening ◽  
Screening Program ◽  
Newborn Screening Program ◽  
Expanded Newborn Screening
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