scholarly journals Reduction in Newborn Screening False Positive Results Following a New Collection Protocol: a Quality Improvement Project

2021 ◽  
Vol 26 (7) ◽  
pp. 723-727
Author(s):  
May Kamleh ◽  
Julia Muzzy Williamson ◽  
Kari Casas ◽  
Mohamed Mohamed
Keyword(s):  
Quality Improvement ◽  
Newborn Screening ◽  
False Positive ◽  
Improve Patient Care ◽  
False Positives ◽  
Sample Collection ◽  
Improvement Project ◽  
Period 2 ◽  
Amino Acid Profiles ◽  
Positive Results

OBJECTIVE Premature infants are known to have a higher rate of false positive newborn screening (NBS) results, with TPN as a contributing factor. The purpose of this quality improvement (QI) project is to reduce false positive NBS results via a TPN interruption protocol METHODS A multidisciplinary team reviewed the literature and developed a new NBS collection protocol, which was implemented in 2 periods. In period 1, TPN was interrupted for 4 hours before NBS sample collection and initiation of carnitine supplements was avoided. In period 2, TPN was interrupted for 6 hours for infants birth weight (BW) < 1000 g, carnitine supplementation continued to be avoided. The rates of false positives NBS results were compared pre- and post-interventions in periods 1 and 2. RESULTS Four hundred twelve neonates were evaluated prior to implementation of this QI project (July 2013–June 2014) and 414 during period 1 intervention (July 2014–June 2016). False positive results decreased from 20.6% to 11.4% (p < 0.001) among all BW categories following the 4-hour TPN interruption. The rate of false positives was further reduced among infants < 1000 g (p = 0.035) in period 2 (n = 112), including a significant reduction in false positive results with elevated amino acid profiles (p = 0.005). CONCLUSIONS The implementation of a strict NBS collection protocol reduced false positive NBS results, which potentially can improve patient care by reducing unnecessary laboratory draws, pain, and parental anxiety. Interruption of TPN for 6 hours was significant in reducing NBS false positive results in neonates < 1000 g.

scholarly journals Reducing False-Positive Results in Newborn Screening Using Machine Learning

2020 ◽  
Vol 6 (1) ◽  
pp. 16 ◽  
Author(s):  
Gang Peng ◽  
Yishuo Tang ◽  
Tina M. Cowan ◽  
Gregory M. Enns ◽  
Hongyu Zhao ◽  
...  
Keyword(s):  
Machine Learning ◽  
Random Forest ◽  
Newborn Screening ◽  
False Positive ◽  
Clinical Laboratory ◽  
False Positives ◽  
Complex Data ◽  
Interpretive Analysis ◽  
Chain Acyl ◽  
Positive Results

Newborn screening (NBS) for inborn metabolic disorders is a highly successful public health program that by design is accompanied by false-positive results. Here we trained a Random Forest machine learning classifier on screening data to improve prediction of true and false positives. Data included 39 metabolic analytes detected by tandem mass spectrometry and clinical variables such as gestational age and birth weight. Analytical performance was evaluated for a cohort of 2777 screen positives reported by the California NBS program, which consisted of 235 confirmed cases and 2542 false positives for one of four disorders: glutaric acidemia type 1 (GA-1), methylmalonic acidemia (MMA), ornithine transcarbamylase deficiency (OTCD), and very long-chain acyl-CoA dehydrogenase deficiency (VLCADD). Without changing the sensitivity to detect these disorders in screening, Random Forest-based analysis of all metabolites reduced the number of false positives for GA-1 by 89%, for MMA by 45%, for OTCD by 98%, and for VLCADD by 2%. All primary disease markers and previously reported analytes such as methionine for MMA and OTCD were among the top-ranked analytes. Random Forest’s ability to classify GA-1 false positives was found similar to results obtained using Clinical Laboratory Integrated Reports (CLIR). We developed an online Random Forest tool for interpretive analysis of increasingly complex data from newborn screening.

scholarly journals Reaching the summit of discharge summaries: a quality improvement project

2021 ◽  
Vol 10 (1) ◽  
pp. e001142
Author(s):  
Richard Thomas Richmond ◽  
Isobel Joy McFadzean ◽  
Pramodh Vallabhaneni
Keyword(s):  
Quality Improvement ◽  
Health And Safety ◽  
Improve Patient Care ◽  
Discharge Summary ◽  
Shop Floor ◽  
Junior Doctors ◽  
Improvement Project ◽  
Step Model ◽  
Assessment Unit ◽  
Discharge Summaries

BackgroundDischarge summaries need to be completed in a timely manner, to improve communication between primary and secondary care, and evidence suggests that delays in discharge summary completion can lead to patient harm.Following a hospital health and safety review due to the sheer backlog of notes in the doctor’s room and wards, urgent action had to be undertaken to improve the discharge summary completion process at our hospital’s paediatric assessment unit. It was felt that the process would best be carried out within a quality improvement (QI) project.MethodsKotter’s ‘eight-step model for change’ was implemented in this QI project with the aim to clear the existing backlog of pending discharge summaries and improve the timeliness of discharge summary completion from the hospital’s paediatric assessment unit. A minimum target of 10% improvement in the completion rate of discharge summaries was set as the primary goal of the project.ResultsFollowing the implementation of the QI processes, we were able to clear the backlog of discharge summaries within 9 months. We improved completion within 24 hours, from <10% to 84%, within 2 months. The success of our project lies in the sustainability of the change process; to date we have consistently achieved the target completion rates since the inception of the project. As a result of the project, we were able to modify the junior doctor rota to remove discharge summary duty slots and bolster workforce on the shop floor. This is still evident in November 2020, with consistently improved discharge summary rates.ConclusionQI projects when conducted successfully can be used to improve patient care, as well as reduce administrative burden on junior doctors. Our QI project is an example of how Kotter’s eight-step model for change can be applied to clinical practice.

scholarly journals Psychological Impact of NBS for CF

2020 ◽  
Vol 6 (2) ◽  
pp. 27 ◽  
Author(s):  
Jane Chudleigh ◽  
Holly Chinnery
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
Health Professionals ◽  
False Positive ◽  
Psychological Impact ◽  
Confirmatory Test ◽  
Test Results ◽  
Burden Of Care ◽  
Positive Results ◽  
Screening Result

Newborn screening for cystic fibrosis has resulted in diagnosis often before symptoms are recognised, leading to benefits including reduced disease severity, decreased burden of care, and lower costs. The psychological impact of this often unsought diagnosis on the parents of seemingly well children is less well understood. The time during which the screening result is communicated to families but before the confirmatory test results are available is recognised as a period of uncertainty and it is this uncertainty that can impact most on parents. Evidence suggests this may be mitigated against by ensuring the time between communication and confirmatory testing is minimized and health professionals involved in communicating positive newborn screening results and diagnostic results for cystic fibrosis to families are knowledgeable and able to provide appropriate reassurance. This is particularly important in the case of false positive results or when the child is given a Cystic Fibrosis Screen Positive, Inconclusive Diagnosis designation. However, to date, there are no formal mechanisms in place to support health professionals undertaking this challenging role, which would enable them to meet the expectations set out in specific guidance.

scholarly journals NeoSeq: a new method of genomic sequencing for newborn screening

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Huaiyan Wang ◽  
Yuqi Yang ◽  
Lingna Zhou ◽  
Yu Wang ◽  
Wei Long ◽  
...  
Keyword(s):  
Newborn Screening ◽  
False Positive ◽  
Disease Risk ◽  
Amplicon Sequencing ◽  
Dried Blood Spots ◽  
Inborn Errors ◽  
Screening Cost ◽  
Diagnostic Time ◽  
Significant Difference ◽  
Positive Results

Abstract Objective To explore the clinical application of NeoSeq in newborn screening. Methods Based on the results obtained from traditional newborn screening (NBS) with tandem mass spectrometry (TMS), three cohorts were recruited into the present study: 36 true positive cases (TPC), 60 false-positive cases (FPC), and 100 negative cases. The dried blood spots of the infants were analyzed with NeoSeq, which is based on multiplex PCR amplicon sequencing. Results Overall, the sensitivity of NeoSeq was 55.6% (20/36) in the detection of TPC. NeoSeq detected disease-related genes in 20 of 36 TPC infants, while it could not identify these genes in eight children. Five cases (3.1%) with disease risk were additionally found in the FPC and NC cohorts. There was a significant difference in the diagnostic time between the two methods—10 days for NeoSeq vs. 43 days for traditional NBS. Conclusions NeoSeq is an economic genomic screening test for newborn screening. It can detect most inborn errors of metabolism, reduce the rate of false positive results, shorten the porting cycles, and reduce the screening cost. However, it is still necessary to further optimize the panel design and add more clinically relevant genomic variants to increase its sensitivity.

Transnasal breath sample collection reduces false positive results of 13c-urea breath test due to urease activities in the mouth

2003 ◽  
Vol 124 (4) ◽  
pp. A176
Author(s):  
Yoshihisa Urita ◽  
Yoshinori Kikuchi ◽  
Kazuo Hike ◽  
Naotaka Torii ◽  
Eiko Kanda ◽  
...  
Keyword(s):  
False Positive ◽  
Breath Test ◽  
Urea Breath Test ◽  
Sample Collection ◽  
Breath Sample ◽  
13C Urea Breath Test ◽  
Positive Results

EVALUATION OF SCREENING TESTS FOR URINARY MUCOPOLYSACCHARIDES

PEDIATRICS ◽  
1973 ◽  
Vol 52 (1) ◽  
pp. 64-68
Author(s):  
Iraj Rezvani ◽  
P. J. Collipp ◽  
Angelo M. DiGeorge
Keyword(s):  
False Positive ◽  
Screening Test ◽  
False Positives ◽  
Spot Test ◽  
Screening Tests ◽  
Paper Test ◽  
Normal Children ◽  
Great Caution ◽  
Turbidity Test ◽  
Positive Results

A recently developed spot test, "MPS paper," has been added to other screening tests for urinary mucopolysaccharides. The effectiveness of this test has been compared to that of the cetytrimethylammonium bromide and the acid albumin gross turbidity tests in normal children and in patients with mucopolysaccharidoses. Although all these tests are effective in the detection of excessive mucopolysaccharides in urine, their excessive sensitivity yields many weak false-positives. We found "MPS paper" test to yield 34% false-positive tests, compared to 42% for cetytrimethylammonium bromide and 8% for the acid albumin gross turbidity test. We have concluded that the acid albumin gross turbidity is the most reliable screening test for detection of mucopolysaccharide disorders. "MPS paper" spot test has the advantage of being simple and practical, but weak positive results should be interpreted with great caution; it has the added disadvantage of being the most costly of the screening tests at the present time.

scholarly journals Rapid 2nd-Tier Test for Measurement of 3-OH-Propionic and Methylmalonic Acids on Dried Blood Spots: Reducing the False-Positive Rate for Propionylcarnitine during Expanded Newborn Screening by Liquid Chromatography–Tandem Mass Spectrometry

2007 ◽  
Vol 53 (7) ◽  
pp. 1364-1369 ◽  
Author(s):  
Giancarlo la Marca ◽  
Sabrina Malvagia ◽  
Elisabetta Pasquini ◽  
Marzia Innocenti ◽  
Maria Alice Donati ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Liquid Chromatography ◽  
Tandem Mass Spectrometry ◽  
Newborn Screening ◽  
False Positive ◽  
Tandem Mass ◽  
Blood Spots ◽  
Chromatography Tandem Mass Spectrometry ◽  
Liquid Chromatography Tandem Mass ◽  
Positive Results

Abstract Background: The expansion of newborn screening programs has increased the number of newborns diagnosed with inborn errors of metabolism in the presymptomatic phase, but it has also increased the number of costly, stress-producing false-positive results. Because propionylcarnitine (C3) is one of the analytes most frequently responsible for false-positive results, we aimed to develop a rapid liquid chromatography–tandem mass spectrometry (LC-MS/MS) method to identify free methylmalonic (MMA) and 3-OH propionic (3OH-PA) acids in blood spots. Methods: We studied newborn screening spots from 250 healthy controls; 124 from infants with abnormal C3, of whom only 5 (4%) were truly affected; 124 from infants with altered isolated methylmalonylcarnitine; and 4 from clinically diagnosed patients. Whole blood was eluted from a 3.2-mm dried blood spot by a CH3CN/H2O 7:3 and 5 mL/L formic. This extract was injected into a LC-MS/MS equipped with pneumatically assisted electrospray without derivatization. Total analysis time was 5 min per sample. Results: The assays were linear up to 3300 nmol/L for both metabolites. Intra- and interassay imprecision data were 3.6%–8% and 3.1%–6%, respectively, for MMA and 5.2%–20% and 3.6%–17% for 3OH-PA. Limit of detection and limit of quantitation were 1.95 and 4.2 μmol/L, respectively, for MMA and 8 and 10 μmol/L for 3OH-PA. The recoveries were 92.9%–106.1%. No deterioration was noted on the columns after 500 chromatographic runs. If the new method had been used as a 2nd-tier test for the 124 samples, only the 5 true positives would have been recalled for additional samples, and the positive predictive value would have been 100%. Conclusions: This method has the potential to markedly reduce false-positive results and the associated costs and anxiety. It may also be suitable for diagnosing and routinely monitoring blood spots for methylmalonic aciduria and propionic acidemia.

Sign in / Sign up

Export Citation Format

Share Document