scholarly journals Metabolic gestational age assessment in low resource settings: a validation protocol

2020 ◽  
Vol 4 ◽  
pp. 150
Author(s):  
A. Brianne Bota ◽  
Victoria Ward ◽  
Stephen Hawken ◽  
Lindsay A. Wilson ◽  
Monica Lamoureux ◽  
...  
Keyword(s):  
Preterm Birth ◽  
Newborn Screening ◽  
Gestational Age ◽  
Screening Program ◽  
Neonatal Morbidity ◽  
Dried Blood Spots ◽  
Primary Objective ◽  
Low Resource Settings ◽  
Low Resource ◽  
Age Estimates

Preterm birth is the leading global cause of neonatal morbidity and mortality. Reliable gestational age estimates are useful for quantifying population burdens of preterm birth and informing allocation of resources to address the problem. However, evaluating gestational age in low-resource settings can be challenging, particularly in places where access to ultrasound is limited. Our group has developed an algorithm using newborn screening analyte values derived from dried blood spots from newborns born in Ontario, Canada for estimating gestational age within one to two weeks. The primary objective of this study is to validate a program that derives gestational age estimates from dried blood spot samples (heel-prick or cord blood) collected from health and demographic surveillance sites and population representative health facilities in low-resource settings in Zambia, Kenya, Bangladesh and Zimbabwe. We will also pilot the use of an algorithm to identify birth percentiles based on gestational age estimates and weight to identify small for gestational age infants. Once collected from local sites, samples will be tested by the Newborn Screening Ontario laboratory at the Children’s Hospital of Eastern Ontario (CHEO) in Ottawa, Canada. Analyte values will be obtained through laboratory analysis for estimation of gestational age as well as screening for other diseases routinely conducted at Ontario’s newborn screening program. For select conditions, abnormal screening results will be reported back to the sites in real time to facilitate counseling and future clinical management. We will determine the accuracy of our existing algorithm for estimation of gestational age in these newborn samples. Results from this research hold the potential to create a feasible method to assess gestational age at birth in low- and middle-income countries where reliable estimation may be otherwise unavailable.

scholarly journals Metabolic gestational age assessment in low resource settings: a validation protocol

2021 ◽  
Vol 4 ◽  
pp. 150
Author(s):  
A. Brianne Bota ◽  
Victoria Ward ◽  
Stephen Hawken ◽  
Lindsay A. Wilson ◽  
Monica Lamoureux ◽  
...  
Keyword(s):  
Preterm Birth ◽  
Newborn Screening ◽  
Gestational Age ◽  
Screening Program ◽  
Neonatal Morbidity ◽  
Dried Blood Spots ◽  
Primary Objective ◽  
Low Resource Settings ◽  
Low Resource ◽  
Age Estimates

Preterm birth is the leading global cause of neonatal morbidity and mortality. Reliable gestational age estimates are useful for quantifying population burdens of preterm birth and informing allocation of resources to address the problem. However, evaluating gestational age in low-resource settings can be challenging, particularly in places where access to ultrasound is limited. Our group has developed an algorithm using newborn screening analyte values derived from dried blood spots from newborns born in Ontario, Canada for estimating gestational age within one to two weeks. The primary objective of this study is to validate a program that derives gestational age estimates from dried blood spot samples (heel-prick or cord blood) collected from health and demographic surveillance sites and population representative health facilities in low-resource settings in Zambia, Kenya, Bangladesh and Zimbabwe. We will also pilot the use of an algorithm to identify birth percentiles based on gestational age estimates and weight to identify small for gestational age infants. Once collected from local sites, samples will be tested by the Newborn Screening Ontario laboratory at the Children’s Hospital of Eastern Ontario (CHEO) in Ottawa, Canada. Analyte values will be obtained through laboratory analysis for estimation of gestational age as well as screening for other diseases routinely conducted at Ontario’s newborn screening program. For select conditions, abnormal screening results will be reported back to the sites in real time to facilitate counseling and future clinical management. We will determine the accuracy of our existing algorithm for estimation of gestational age in these newborn samples. Results from this research hold the potential to create a feasible method to assess gestational age at birth in low- and middle-income countries where reliable estimation may be otherwise unavailable.

scholarly journals Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses

2020 ◽  
Vol 6 (3) ◽  
pp. 51 ◽  
Author(s):  
Trine Tangeraas ◽  
Ingjerd Sæves ◽  
Claus Klingenberg ◽  
Jens Jørgensen ◽  
Erle Kristensen ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Screening Program ◽  
Good Health ◽  
Dried Blood Spots ◽  
Case Definitions ◽  
Inborn Errors ◽  
Disease Spectrum ◽  
Expanded Newborn Screening ◽  
Second Tier ◽  
Biochemical Testing

In 2012, the Norwegian newborn screening program (NBS) was expanded (eNBS) from screening for two diseases to that for 23 diseases (20 inborn errors of metabolism, IEMs) and again in 2018, to include a total of 25 conditions (21 IEMs). Between 1 March 2012 and 29 February 2020, 461,369 newborns were screened for 20 IEMs in addition to phenylketonuria (PKU). Excluding PKU, there were 75 true-positive (TP) (1:6151) and 107 (1:4311) false-positive IEM cases. Twenty-one percent of the TP cases were symptomatic at the time of the NBS results, but in two-thirds, the screening result directed the exact diagnosis. Eighty-two percent of the TP cases had good health outcomes, evaluated in 2020. The yearly positive predictive value was increased from 26% to 54% by the use of the Region 4 Stork post-analytical interpretive tool (R4S)/Collaborative Laboratory Integrated Reports 2.0 (CLIR), second-tier biochemical testing and genetic confirmation using DNA extracted from the original dried blood spots. The incidence of IEMs increased by 46% after eNBS was introduced, predominantly due to the finding of attenuated phenotypes. The next step is defining which newborns would truly benefit from screening at the milder end of the disease spectrum. This will require coordinated international collaboration, including proper case definitions and outcome studies.

scholarly journals Development and validation of a 2nd tier test for identification of purine nucleoside phosphorylase deficiency patients during expanded newborn screening by liquid chromatography-tandem mass spectrometry

2016 ◽  
Vol 54 (4) ◽  
Author(s):  
Giancarlo la Marca ◽  
Elisa Giocaliere ◽  
Sabrina Malvagia ◽  
Fabio Villanelli ◽  
Silvia Funghini ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Purine Nucleoside Phosphorylase ◽  
Screening Program ◽  
Dried Blood Spots ◽  
Purine Nucleoside ◽  
Validation Data ◽  
Nucleoside Phosphorylase ◽  
Liquid Chromatography Tandem Mass ◽  
Screening Efficiency ◽  
Purine Nucleoside Phosphorylase Deficiency

AbstractPurine nucleoside phosphorylase (PNP) deficiency has been recently introduced in the newborn screening program in Tuscany. In order to improve the PNP screening efficiency, we developed a 2nd tier test to quantify PNP primary markers deoxyguanosine (dGuo) and deoxyinosine (dIno).Dried blood spots (DBS) samples were extracted with 200 μL of methanol and 100 μL of water (by two steps). Internal standards were added at a final concentration of 10 μmol/L. After extraction, samples were analysed by LC-MS/MS. The chromatographic run was performed in gradient mode by using a Synergi Fusion column.The assay was linear over a concentration range of 0.05–50 μmol/L (RThe LC-MS/MS method can reliably measure dIno and dGuo in DBS for the diagnosis of PNP. Validation data confirm the present method is characterised by good reproducibility, accuracy and imprecision for the quantitation of dIno and dGuo. The assay also appears suitable for use in monitoring treatment of PNP patients.

scholarly journals Vaginal progesterone in prevention of preterm labour

2020 ◽  
Vol 8 (6) ◽  
pp. 449-454
Author(s):  
Dr. Prativa Sahoo ◽  
◽  
Dr. Nayan Kumar Patel ◽  
Dr. Ojaswini Patel ◽  
Dr. A.K Panigrahi ◽  
...  
Keyword(s):  
Preterm Birth ◽  
Pregnant Women ◽  
Preterm Labour ◽  
Previous History ◽  
Neonatal Morbidity ◽  
Primary Objective ◽  
Vaginal Progesterone ◽  
History Of ◽  
Secondary Objective

Introduction: Preterm birth, defined as childbirth occurring at less than 37 completed weeks or 259days of gestation since the first day of a woman’s last menstrual period, is one of the leading causesof neonatal morbidity and mortality. Across 184 countries, the rate of preterm birth ranges from 5%to 18% of babies born. Out of 27 million babies born every year (2018 data ) in India, 3.5 millionbabies born are premature. Recent literature review has shown that the use of Progesterone reducesrisk of preterm birth. But there is little information available regarding the role of Progesterone inpreventing preterm labour. Objectives: Primary objective of the study is to find out the incidence ofpreterm labour among pregnant women taking vaginal progesterone. Secondary objective istoassess the safety and efficacy of progesterone in feto-maternal outcome. Methods: This is a crosssectional study where100 prescriptions from IPD of Dept of O&G, VIMSAR, Burla of women who hadrecently undergone labour with singleton gestation and with previous history of preterm labour wereanalysed. Incidence of preterm labour among those taking and not taking vaginal progesterone werecompared. Results: There was decreased incidence of preterm labour as there is prolongation meanGestational age by 9.383 weeks among pregnant women taking vaginal progesterone. Conclusions:In the present study, women taking vaginal progesterone had significantly lowered incidencepreterm birth rate.

Dried Blood Spots Improve Access to HIV Diagnosis and Care for Infants in Low-Resource Settings

2005 ◽  
Vol 38 (5) ◽  
pp. 615-617 ◽  
Author(s):  
Gayle G Sherman ◽  
Gwynneth Stevens ◽  
Stephanie A Jones ◽  
Pamela Horsfield ◽  
Wendy S Stevens
Keyword(s):  
Dried Blood Spots ◽  
Hiv Diagnosis ◽  
Low Resource Settings ◽  
Low Resource ◽  
Blood Spots ◽  
Improve Access

scholarly journals Newborn Iodine Status Is Not Related to Congenital Hypothyroidism

2020 ◽  
Vol 150 (9) ◽  
pp. 2429-2434
Author(s):  
James L Mills ◽  
Elijah C Reische ◽  
Kurunthachalam Kannan ◽  
Chongjing Gao ◽  
Gary M Shaw ◽  
...  
Keyword(s):  
United States ◽  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Iodine Deficiency ◽  
Neonatal Intensive Care ◽  
Screening Program ◽  
Iodine Concentration ◽  
The United States ◽  
Dried Blood Spots ◽  
Iodine Status

ABSTRACT Background Severe iodine deficiency or excess during pregnancy can cause congenital hypothyroidism (CH). Iodine deficiency is common in pregnant women in the United States. Objectives We conducted a nested case–control study in a cohort of ∼2.5 million births in California to determine whether iodine status is related to CH in a US population. Methods Dried blood spots from 907 newborns with CH identified by newborn screening and 909 unaffected controls matched by month of birth were obtained from the California Newborn Screening Program to measure whole-blood iodine concentration. Iodine status was compared between cases and controls, and logistic regression was used to assess the association between CH status and blood iodine concentrations. Iodine status was also compared between cases and controls among infants treated in a neonatal intensive care unit (NICU) because CH has been reported in infants exposed to high levels of iodine in the NICU. Results Blood iodine concentrations did not differ significantly between cases (median: 20.0 ng/mL; IQR: 12.1–29.8 ng/mL) and controls (median: 20.3 ng/mL; IQR: 12.5–30.9 ng/mL; P = 0.59). Neither extremely high nor extremely low blood iodine concentrations (1st, 5th, 95th, and 99th percentiles of the distribution) were more common in cases. Among infants treated in NICUs, however, cases had significantly (P = 0.01) higher iodine (median: 22.7 ng/mL; IQR: 16.4–32.1 ng/mL) compared with controls (median: 17.3 ng/mL; IQR: 8.3–26.6 ng/mL). Conclusions CH cases did not have significantly higher or lower iodine in this population, which is reassuring given that maternal iodine deficiency is common in the United States. Among newborns in the NICU, CH cases had higher blood iodine concentrations compared with controls, suggesting that excess iodine exposure in the NICU could be causing CH. It may be beneficial to monitor iodine exposure from surgical procedures, imaging, and iodine-containing disinfectants and to consider non-iodine alternatives.

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