| Title |
High incidence of maternal vitamin B12 deficiency detected by newborn screening: first results from a study for the evaluation of 26 additional target disorders for the German newborn screening panel
|
|---|---|
| Published in |
World Journal of Pediatrics, June 2018
|
| DOI | 10.1007/s12519-018-0159-1 |
| Pubmed ID | |
| Authors |
Gwendolyn Gramer, Junmin Fang-Hoffmann, Patrik Feyh, Glynis Klinke, Peter Monostori, Jürgen G. Okun, Georg F. Hoffmann |
| Abstract |
Newborn screening (NBS) in Germany currently includes 15 target disorders. Recent diagnostic improvements suggest an extension of the screening panel. Since August 2016, a prospective study evaluating 26 additional target disorders (25 metabolic disorders and vitamin B12-deficiency) in addition to the German screening panel is performed at the Newborn Screening Center Heidelberg. First-tier results from tandem-MS screening are complemented by second-tier strategies for 15 of the additional target disorders. NBS results of seven patients diagnosed symptomatically with one of the additional target disorders by selective screening since August 2016 are retrospectively evaluated. Over a 13-month period, 68,418 children participated in the study. Second-tier analyses were performed in 5.4% of samples. Only 59 (0.1%) of study participants had abnormal screening results for one of the additional target disorders. Target disorders from the study panel were confirmed in 12 children: 1 3-hydroxy-3-methylglutaryl coenzyme A (CoA)-lyase deficiency, 1 citrullinemia type I, 1 multiple acyl-CoA dehydrogenase-deficiency, 1 methylenetetrahydrofolate reductase-deficiency, and 8 children with maternal vitamin B12-deficiency. In addition, six of seven patients diagnosed symptomatically outside the study with one of the target disorders would have been identified by the study strategy in their NBS sample. Within 13 months, the study "Newborn Screening 2020" identified additional 12 children with treatable conditions while only marginally increasing the recall rate by 0.1%. Maternal vitamin B12-deficiency was the most frequent finding. Even more children could benefit from screening for the additional target disorders by extending the NBS panel for Germany and/or other countries. |
X Demographics
The data shown below were collected from the profiles of 14 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 3 | 21% |
| United Kingdom | 2 | 14% |
| Netherlands | 1 | 7% |
| Unknown | 8 | 57% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 13 | 93% |
| Practitioners (doctors, other healthcare professionals) | 1 | 7% |
Mendeley readers
The data shown below were compiled from readership statistics for 20 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 20 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Postgraduate | 4 | 20% |
| Student > Master | 3 | 15% |
| Student > Ph. D. Student | 3 | 15% |
| Other | 2 | 10% |
| Researcher | 2 | 10% |
| Other | 2 | 10% |
| Unknown | 4 | 20% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 7 | 35% |
| Nursing and Health Professions | 3 | 15% |
| Agricultural and Biological Sciences | 2 | 10% |
| Psychology | 2 | 10% |
| Chemistry | 1 | 5% |
| Other | 0 | 0% |
| Unknown | 5 | 25% |
Attention Score in Context
This research output has an Altmetric Attention Score of 9. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 31 October 2022.
All research outputs
#4,029,895
of 24,716,872 outputs
Outputs from World Journal of Pediatrics
#54
of 645 outputs
Outputs of similar age
#73,255
of 334,222 outputs
Outputs of similar age from World Journal of Pediatrics
#2
of 11 outputs
Altmetric has tracked 24,716,872 research outputs across all sources so far. Compared to these this one has done well and is in the 83rd percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 645 research outputs from this source. They receive a mean Attention Score of 4.4. This one has done particularly well, scoring higher than 92% of its peers.
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We're also able to compare this research output to 11 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 90% of its contemporaries.