Introduction of Universal Newborn Screening for Sickle Cell Disease in Germany—A Brief Narrative Review

Lobitz, Stephan; Kunz, Joachim; Cario, Holger; Hakimeh, Dani; Jarisch, Andrea; Kulozik, Andreas E.; Oevermann, Lena; Grosse, Regine

doi:10.3390/ijns7010007

Cited by 7 publications

(10 citation statements)

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“…In the USA, where universal NBS for SCD (ie, testing newborn babies within the first few weeks after birth) has existed in all 50 states since 2006, NBS is largely acknowledged to be among the most important factors leading to high rates (well over 90%) of survival into adulthood 5 10 11. Universal screening for SCD now constitutes national policy in the USA, Brazil, UK, Germany, Spain, the Netherlands and Malta;12–15 longstanding NBS programmes have also been in place in other parts of Europe, Jamaica, Ghana and Canada 13 16 17. Targeted screening of newborns (eg, according to ancestry) is implemented in some regions but has been shown to be less effective compared with universal screening at identifying infants with disease and preventing deaths 18…”

Section: Introductionmentioning

confidence: 99%

Enablers and barriers to newborn screening for sickle cell disease in Africa: results from a qualitative study involving programmes in six countries

et al. 2022

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ObjectivesGiven the fundamental role of newborn bloodspot screening (NBS) to enable prompt diagnosis and optimal clinical management of individuals with sickle cell disease (SCD), we sought to systematically assess enablers and barriers to implementation of NBS programmes for SCD in Africa using established qualitative research methods.SettingChildbirth centres and NBS laboratories from six countries in East, West and Southern Africa.ParticipantsEight programme leaders involved with establishing and operating NBS programmes for SCD in Angola, Democratic Republic of Congo, Ghana, Liberia, Nigeria and Tanzania.Primary and secondary outcome measuresData obtained through a structured, phased interview approach were analysed using a combination of inductive and deductive codes and used to determine primary themes related to the implementation and sustainability of SCD NBS programmes.ResultsFour primary themes emerged from the analysis relating to governance (eg, pragmatic considerations when deploying overcommitted clinical staff to perform NBS), technical (eg, design and execution of operational processes), cultural (eg, variability of knowledge and perceptions of community-based staff) and financial (eg, issues that can arise when external funding may effectively preclude government inputs) aspects. Key learnings included perceived factors that contribute to long-term NBS programme sustainability.ConclusionsThe establishment of enduring NBS programmes is a proven approach to improving the health of populations with SCD. Organising such programmes in Africa is feasible, but initial implementation does not assure sustainability. Our analysis suggests that future programmes should prioritise government partner participation and funding from the earliest stages of programme development.

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Section: Introductionmentioning

confidence: 99%

Enablers and barriers to newborn screening for sickle cell disease in Africa: results from a qualitative study involving programmes in six countries

et al. 2022

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“…For SCD an estimated birth prevalence of 1:5000–1:7500 for Germany is currently being assumed. These numbers are based on a supportive publication analyzing health insurance data and data collected in four pilot studies conducted in metropolitan areas in Germany past 2012 5 . Data addressing the birth prevalence of thalassemic syndromes in Germany, however, are less clear.…”

Section: Introductionmentioning

confidence: 99%

Screening and diagnosis of hemoglobinopathies in Germany: Current state and future perspectives

Aramayo-Singelmann

Halimeh

Proske

et al. 2022

Sci Rep

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This monocentric study conducted at the Pediatric and Adult Hemoglobinopathy Outpatient Units of the University Hospital of Essen summarizes the results of hemoglobinopathies diagnosed between August 2018 and September 2021, prior to the introduction of a general newborn screening (NBS) for SCD in Germany (October 2021). In total, 339 patients (pts.), 182 pediatric [50.5% males (92/182)] and 157 adult pts. [75.8% females (119/157)] were diagnosed by molecular analysis. The most common (parental) descent among affected pts. were the Middle Eastern and North African/Turkey (Turkey: 19.8%, Syria: 11.8%, and Iraq: 5.9%), and the sub-Saharan African region (21.3%). Median age at diagnosis in pediatric carriers [N = 157; 54.1% males (85/157)] was 6.2 yrs. (range 1 (months) mos.–17.8 yrs.) and 31 yrs. (range 18–65 yrs.) in adults [N = 53; 75.2% females (115/153)]. Median age at diagnosis of homozygous or compound-heterozygous disease in pediatric pts. (72% (18/25) females) was 3.7 yrs., range 4 mos.–17 yrs. (HbSS (N = 13): 2.5 yrs., range 5 mos.–7.8 yrs.; HbS/C disease (N = 5): 8 yrs., range 1–8 yrs.; homozygous/compound heterozygous β-thalassemia (N = 5): 8 yrs., range 3–13 yrs.), in contrast to HbH disease (N = 5): 18 yrs. (median), range 12–40 yrs. Hemoglobinopathies represent a relevant health problem in Germany due to immigration and late diagnosis of second/third generation migrants. SCD-NBS will accelerate diagnosis and might result in reduction of disease-associated morbidity. However, diagnosis of carriers and/or disease-states (i.e. thalassemic syndromes) in newly immigrated and undiagnosed patients will further be delayed. A first major step has been taken, but further steps are required.

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“…SCD is a major cause of childhood morbidity and mortality in these areas. [1][2][3] Though, timely access to penicillin antibiotic therapy and pneumococcal vaccination significantly reduce the number of lifelong vaso-occlusive events. [4][5][6][7] This therapeutic benefit supports the implementation of newborn screening (NBS) for SCD in Western European countries.…”

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confidence: 99%

“…[4][5][6][7] This therapeutic benefit supports the implementation of newborn screening (NBS) for SCD in Western European countries. [1][2]4 In the 90s, Portugal tried to implement a screening program for SCD, carrying out a pilot study centred on a maternity hospital in Lisbon. 2,5 The low number of identified carriers at the time and the lack of identification of any patient affected with SCD hindered the expansion of screening to the rest of the country.…”

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confidence: 99%

“…2,4 In Western European countries, NBS for SCD is either universal (UK, Spain) or restricted to regions with a high population of immigrant minorities (France, Belgium). [1][2][3][4] Error-prone selective screenings have the disadvantage of needing to discriminate the ethnicity of the parents and the possibility of missing affected children because of incorrect selection. 2,4 In addition, although parents provide consent for screening, no protocol exists for parents who refuse to participate.…”

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confidence: 99%

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National newborn screening for sickle cell disease and communication of carrier status

Rocha¹,

Vilarinho²,

Louro³

2023

RPMGF

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Portugal is currently implementing a pilot project to screen for sickle cell disease during national newborn screening. This project started in the region of Lisbon and the Tagus valley where there is a higher frequency of African population. Anticipating the expansion of this screening to the rest of the national territory, a question arises: how to deal with cases of identified sickle cell trait carriers?

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Introduction of Universal Newborn Screening for Sickle Cell Disease in Germany—A Brief Narrative Review

Abstract: Sickle cell disease (SCD) is a severe non-malignant disorder of hemoglobin and is inherited in an autosomal-recessive manner [...]

Cited by 7 publications

References 10 publications

Enablers and barriers to newborn screening for sickle cell disease in Africa: results from a qualitative study involving programmes in six countries

Enablers and barriers to newborn screening for sickle cell disease in Africa: results from a qualitative study involving programmes in six countries

Screening and diagnosis of hemoglobinopathies in Germany: Current state and future perspectives

National newborn screening for sickle cell disease and communication of carrier status

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