Critical congenital heart defects (CCHDs) are potentially life-threatening malformations that remain a significant cause of neonatal mortality and morbidity. Failure to diagnose these conditions ...shortly after birth may result in acute cardiovascular collapse and death. The identification of CCHDs by routine newborn clinical examination is routine in many countries, but consistently misses over a third of cases, and, although antenatal ultrasound screening can be very effective in early diagnosis, the provision and accuracy of ultrasound screening is highly variable. As most CCHDs present with mild cyanosis (hypoxaemia), which is frequently clinically undetectable, pulse oximetry is a rapid, simple, painless method of accurately identifying hypoxaemia, which has gained popularity as a screen for CCHD. This Special Issue of the International Journal of Neonatal Screening, devoted to "Neonatal Screening for Critical Congenital Heart Defects (CCHDs)", will consider the evidence for CCHD screening with pulse oximetry, the acceptability and cost-effectiveness of this intervention, the additional non-cardiac conditions which it may also identify, and international experiences of introducing CCHD screening across the globe.
ZusammenfassungDas Neugeborenen-Screening aus Trockenblut (Newborn Blood Spot Screening, NBS) ist eine seit vielen Jahren etablierte hocheffektive Maßnahme der Sekundärprävention. Aufgrund der ...Entwicklung neuer diagnostischer und therapeutischer Möglichkeiten für seltene angeborene Krankheiten ist davon auszugehen, dass in Zukunft weitere Zielkrankheiten in das NBS aufgenommen werden. Vor diesem Hintergrund wurde im Auftrag des GKV-Spitzenverbandes ein Konzept für die Weiterentwicklung des NBS entwickelt. Als Grundlage hierfür dienten eine systematische Literaturrecherche und die Erhebung des Status quo in Deutschland anhand von quantitativen und qualitativen Methoden.Entscheidend für den Erfolg des NBS ist, dass möglichst alle von einer Zielkrankheit betroffenen Neugeborenen frühzeitig diagnostiziert und behandelt werden und der bei jedem Screening zu erwartende Schaden (z. B. durch falsch-positive Befunde) möglichst gering gehalten wird. Hierfür ist die Organisation des Screenings im Sinne eines integrierten Programms durch eine zentrale Koordination mit standardisierten Strukturen, kontinuierlichem Qualitätsmanagement und einer datenschutzkonformen Digitalisierung erforderlich.Obwohl das NBS in Deutschland insgesamt erfolgreich umgesetzt wird, zeigen sich im Rahmen des hier vorgestellten Forschungsprojekts auch Schwächen und Handlungsbedarf. Erarbeitete Vorschläge und Empfehlungen wurden in einem Konzeptpapier festgehalten, das Ansätze für eine dem aktuellen Forschungsstand entsprechende Weiterentwicklung des NBS aufzeigt und dabei sich ändernde Anforderungen an die Infrastruktur und Prozesse im Gesundheitssystem berücksichtigt. In diesem Übersichtsartikel werden Herausforderungen, aktueller Stand und Lösungsansätze zu zentralen Themenfeldern des Konzeptpapiers zusammenfassend dargestellt.
Screening drugs on patient biopsies from solid tumours has immense potential, but is challenging due to the small amount of available material. To address this, we present here a plug-based ...microfluidics platform for functional screening of drug combinations. Integrated Braille valves allow changing the plug composition on demand and enable collecting >1200 data points (56 different conditions with at least 20 replicates each) per biopsy. After deriving and validating efficient and specific drug combinations for two genetically different pancreatic cancer cell lines and xenograft mouse models, we additionally screen live cells from human solid tumours with no need for ex vivo culturing steps, and obtain highly specific sensitivity profiles. The entire workflow can be completed within 48 h at assay costs of less than US$ 150 per patient. We believe this can pave the way for rapid determination of optimal personalized cancer therapies.
Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies is a Special Issue of the International Journal of Neonatal Screening. Sickle cell disease is one of the most common inherited ...blood disorders, with a huge impact on health care systems due to high morbidity and high mortality associated with the undiagnosed disease. Newborn screening helps to make the diagnosis early and to prevent fatal complications and diagnostic odysseys. This book gives an overview of diagnostic standards in newborn screening for sickle cell disease and examples of existing newborn screening programs.
Background
Cancer‐related deaths over the next decade are expected to increase due to cancer screening deficits associated with the coronavirus disease 2019 (COVID‐19) pandemic. Although national ...deficits have been quantified, a structured response to identifying and addressing local deficits has not been widely available. The objectives of this report are to share preliminary data on monthly screening deficits in breast, colorectal, lung, and cervical cancers across diverse settings and to provide online materials from a national quality improvement (QI) study to help other institutions to address local screening deficits.
Methods
This prospective, national QI study on Return‐to‐Screening enrolled 748 accredited cancer programs in the United States from April through June 2021. Local prepandemic and pandemic monthly screening test volumes (MTVs) were used to calculate the relative percent change in MTV to describe the monthly screening gap.
Results
The majority of facilities reported monthly screening deficits (colorectal cancer, 80.6% n = 104/129; cervical cancer, 69.0% n = 20/29; breast cancer, 55.3% n = 241/436; lung cancer, 44.6% n = 98/220). Overall, the median relative percent change in MTV ranged from –17.7% for colorectal cancer (interquartile range IQR, –33.6% to –2.8%), –6.8% for cervical cancer (IQR, –29.4% to 1.7%), –1.6% for breast cancer (IQR, –9.6% to 7.0%), and 1.2% for lung cancer (IQR, –16.9% to 19.0%). Geographic differences were not observed. There were statistically significant differences in the percent change in MTV between institution types for colorectal cancer screening (P = .02).
Conclusion
Cancer screening is still in need of urgent attention, and the screening resources made available online may help facilities to close critical gaps and address screenings missed in 2020.
Lay Summary
Question: How can the effects of the coronavirus disease 2019 pandemic on cancer screening be mitigated?
Findings: When national resources were provided, including methods to calculate local screening deficits, 748 cancer programs promptly enrolled in a national Return‐to‐Screening study, and the majority identified local screening deficits, most notably in colorectal cancer. Using these results, 814 quality improvement projects were initiated with the potential to add 70,000 screening tests in 2021.
Meaning: Cancer screening is still in need of urgent attention, and the online resources that we provide may help to close critical screening deficits.
A national Return‐to‐Screening quality improvement study including 748 cancer facilities has found that the majority have local screening deficits due to the COVID‐19 pandemic, most notably in colorectal cancer. Cancer screening is still in need of urgent attention, and the screening resources made available online may help to close critical gaps and address screenings missed in 2020.
PRAGMATIC INTEGRATED TRIALS IN SCREENING Taylor-Phillips, S; Jenkinson, D; Clarke, A ...
Journal of epidemiology and community health (1979),
09/2017, Letnik:
71
Journal Article
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