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The influence of maternal disease on metabolites measured as part of newborn screening.

ABSTRACT: Measurements of neonatal metabolites are commonly used in newborn screening (NBS) programs to detect inborn errors of metabolism. Variation in these metabolites, particularly in infants born preterm (<37 weeks gestation), can result from multiple etiologies. We sought to evaluate the impact of maternal complications of pregnancy and environmental stressors on NBS metabolites.We examined 49 metabolic biomarkers obtained from routine NBS in 452 infants born preterm for association with maternal environmental stressors and complications of pregnancy.Neonatal free carnitine (C0, p = 1.4 × 10(-7)), acetylcarnitine (C2, p = 2.7 × 10(-7)), octenoylcarnitine (C8:1, p = 5.2 × 10(-11)) and linoleoylcarnitine (C18:2, p = 9.1 × 10(-7)) were elevated in infants born to preeclamptic mothers. Similar elevations were observed in small for gestational age infants and in infants where labor was not initiated prior to delivery. When accounting for all three factors, associations remained strongest between acylcarnitines and preeclampsia.We observed that maternal conditions, particularly preeclampsia, influence NBS biomarkers. This is important for identifying maternal conditions that influence metabolites measured during routine NBS that are also markers of fetal growth and overall health.

SUBMITTER: Ryckman KK

PROVIDER: S-EPMC3753672 | biostudies-literature | 2013 Sep

REPOSITORIES: biostudies-literature

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The influence of maternal disease on metabolites measured as part of newborn screening.

Ryckman Kelli K KK Shchelochkov Oleg A OA Cook Daniel E DE Berberich Stanton L SL Copeland Sara S Dagle John M JM Murray Jeffrey C JC

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 20130502 14

<h4>Objective</h4>Measurements of neonatal metabolites are commonly used in newborn screening (NBS) programs to detect inborn errors of metabolism. Variation in these metabolites, particularly in infants born preterm (<37 weeks gestation), can result from multiple etiologies. We sought to evaluate the impact of maternal complications of pregnancy and environmental stressors on NBS metabolites.<h4>Methods</h4>We examined 49 metabolic biomarkers obtained from routine NBS in 452 infants born preter ...[more]

PMID: 23550828

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Project description:BackgroundSickle cell disease is highly prevalent in sub-Saharan Africa, where it accounts for substantial morbidity and mortality. Newborn screening is paramount for early diagnosis and enrolment of affected children into a comprehensive care programme. Up to now, this strategy has been greatly impaired in resource-poor countries, because screening methods are technologically and financially intensive; affordable, reliable, and accurate methods are needed. We aimed to test the feasibility of implementing a sickle cell disease screening programme using innovative point-of-care test devices into existing immunisation programmes in primary health-care settings.MethodsBuilding on a routine immunisation programme and using existing facilities and staff, we did a prospective feasibility study at five primary health-care centres within Gwagwalada Area Council, Abuja, Nigeria. We systematically screened for sickle cell disease consecutive newborn babies and infants younger than 9 months who presented to immunisation clinics at these five centres, using an ELISA-based point-of care test (HemoTypeSC). A subgroup of consecutive babies who presented to immunisation clinics at the primary health-care centres, whose mothers gave consent, were tested by the HemoTypeSC point-of-care test alongside a different immunoassay-based point-of-care test (SickleSCAN) and the gold standard test, high-performance liquid chromatography (HPLC).FindingsBetween July 14, 2017, and Sept 3, 2019, 3603 newborn babies and infants who presented for immunisation were screened for sickle cell disease at five primary health-care centres using the ELISA-based point-of-care test. We identified 51 (1%) children with sickle cell anaemia (HbSS), four (<1%) heterozygous for HbS and HbC (HbSC), 740 (21%) with sickle cell trait (HbAS), 34 (1%) heterozygous for HbA and HbC (HbAC), and 2774 (77%) with normal haemoglobin (HbAA). Of the 55 babies and infants with confirmed sickle cell disease, 41 (75%) were enrolled into a programme for free folic acid and penicillin, of whom 36 (88%) completed three visits over 9 months (median follow-up 226 days [IQR 198-357]). The head-to-head comparison between the two point-of-care tests and HPLC showed concordance between the three testing methods in screening 313 newborn babies, with a specificity of 100% with HemoTypeSC, 100% with SickleSCAN, and 100% by HPLC, and a sensitivity of 100% with HemoTypeSC, 100% with SickleSCAN, and 100% by HPLC.InterpretationOur pilot study shows that the integration of newborn screening into existing primary health-care immunisation programmes is feasible and can rapidly be implemented with limited resources. Point-of-care tests are reliable and accurate in newborn screening for sickle cell disease. This feasibility study bodes well for the care of patients with sickle cell disease in resource-poor countries.FundingDoris Duke Charitable Foundation, Imperial College London Wellcome Trust Centre for Global Health Research, and Richard and Susan Kiphart Family Foundation.

Project description:IntroductionThe community score card (CSC) is a participatory monitoring and evaluation tool that has been employed to strengthen the mutual accountability of health system and community actors. In this paper we describe the influence of the CSC on selected maternal and newborn service delivery and utilization indicators.MethodsThis was a mixed methods study that used both quantitative and qualitative data collection methods. It was implemented in five sub-counties and one town council in Kibuku district in Uganda. Data was collected through 17 key informant interviews and 10 focus group discussions as well as CSC scoring and stakeholder meeting reports. The repeated measures ANOVA test was used to test for statistical significance. Qualitative data was analyzed manually using content analysis. The analysis about the change pathways was guided by the Wild and Harris dimensions of change framework.ResultsThere was an overall improvement in the common indicators across sub-counties in the project area between the 1st and 5th round scores. Almost all the red scores had changed to green or yellow by round five except for availability of drugs and mothers attending Antenatal care (ANC) in the first trimester. There were statistically significant differences in mean scores for men escorting their wives for ante natal care (ANC) (F(4,20) = 5.45, P = 0.01), availability of midwives (F(4,16) =5.77, P < 0.01), availability of delivery beds (F(4,12) =9.00, P < 0.01) and mothers delivering from traditional birth attendants (TBAs), F(4,16) = 3.86, p = 0.02). The qualitative findings suggest that strengthening of citizens' demand, availability of resources through collaborative problem solving, increased awareness about targeted maternal health services and increased top down performance pressure contributed to positive changes as perceived by community members and their leaders.Conclusions and recommendationsThe community score cards created opportunities for community leaders and communities to work together to identify innovative ways of dealing with the health service delivery and utilization challenges that they face. Local leaders should encourage the availability of safe spaces for dialogue between communities, health workers and leaders where performance and utilization challenges can be identified and solutions proposed and implemented jointly.

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The influence of maternal disease on metabolites measured as part of newborn screening.

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The influence of maternal disease on metabolites measured as part of newborn screening.

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