Radiographers' experience of preventing patient safety incidents in the context of radiological examinations.

AIM: To describe factors that prevent patient safety incidents in connection with the radiological examination from the radiographer's perspective. BACKGROUND: Radiology plays an important role in the care chain and involves diagnostic examinations and treatments using various radiation sources and different techniques. Risks for patient safety incidents exist in every phase of a radiological examination. Appropriate use of medical imaging requires a multidisciplinary approach involving staff of different categories to meet the medical objectives and the patient's care needs. In accordance with a Safety-II approach, it is therefore important to understand why things go right and ensure that they do by supporting the conditions for right things to happen. DESIGN: A qualitative study with a descriptive design. METHODS: Semi-structured interviews were conducted with 17 radiographers. The data were analysed using theoretical thematic analysis based on the Systems Engineering Initiative for Patient Safety model. RESULTS: The analysis yielded 20 sub-themes, which describe different success factors contributing to patient safety. CONCLUSION: Proactive work should focus on collaboration and sharing the necessary knowledge, internally and externally, for care in connection with the radiological examination. The radiological and peri-radiographic knowledge should include monitoring the patient's safety needs before, during and after the radiological examination. The referring clinician has a central role in writing relevant referrals and the radiographer's competence is crucial in monitoring the patient's safety needs. A good patient safety culture is required and working with standards is important.

Radiographers' experience of risks for patient safety incidents in the radiology department.

AIMS AND OBJECTIVES: To describe potential risks for patient safety incidents in the radiology department from a radiographer's perspective. BACKGROUND: A radiology department is a high-tech environment with high communication activity between different healthcare systems in combination with a large patient flow. Risks for patient safety incidents exist in every phase of a radiological examination. Due to the nature of the activity, a radiology department needs to have its own range of measures to prevent risks linked to radiology. DESIGN: A qualitative descriptive design. METHODS: Semi-structured interviews were carried out with 17 radiographers during the period September 2015 to February 2016. The data were analysed using conventional content analysis. This study followed the COREQ checklist criteria for the reporting of qualitative research. RESULTS: The analysis yielded 20 different patient safety incidents that could result in the following six types of healthcare-associated harm: Patients could be exposed to unnecessary radiation; patients could receive an inaccurate diagnosis; patients could incur drug-induced damage; patients could suffer direct physical injury; or, their examination and treatment could be delayed or not carried out; or, their general health condition could deteriorate. CONCLUSION: Lack of communication and knowledge, both internally and externally, can increase risks for patient safety incidents. The study describes a complex chain of activities that represent risks in the radiology department. It needs to be pointed out that it is not always the activities in the radiology department that cause the harm. RELEVANCE TO CLINICAL PRACTICE: To carry out preventive patient safety work, a comprehensive analysis of the entire care chain is required. Patient safety work should also focus on improvement in communication both internally, within the radiology department, and externally. Standardised methodological guidelines, consistent prescriptions of method from the radiologist and a good working environment are internal success factors for patient safety at the radiology department.

Treatment for retinopathy of prematurity in Sweden 2008-2021: Reduced gestational age of treated infants and remaining differences in treatment type and recurrence rates between hospitals.

PURPOSE: This study aimed to investigate various aspects of treatment for retinopathy of prematurity (ROP) in Sweden over the past 14 years, nationally and at a hospital level. METHODS: Data on screening and treatment for ROP in infants born in Sweden from 2008 to 2021 were extracted from the national ROP register, SWEDROP. During this period, Swedish screening guidelines were reduced from gestational age (GA) < 32 weeks to <31 weeks in 2012 and to <30 weeks in 2020. RESULTS: Altogether, 10 959 infants were screened and 600 infants treated for ROP during the study period. Parallel to changed guidelines, the number of screened infants decreased (p < 0.000) and the incidence of ROP and frequency of treatment increased (p < 0.001), while both remained similar in infants with a GA below 30 weeks. Among treated infants, GA and BW were reduced over the years (p < 0.001). Laser treatment (85.2% of primary treatments) became less common and anti-VEGF injections (13.6%) became more common over time (p < 0.001). Altogether 16 eyes were treated with the encircling band and 13 with vitrectomy. The total frequency of retreatment (32.7% of treated eyes) remained similar over time but was more common after primary anti-VEGF injection (67.7%) than laser treatment (27.2%). There were differences between the seven university hospitals regarding type of treatment and number of retreatments (p < 0.001). CONCLUSION: The frequency of treatment and retreatment for ROP remained similar over time, but the type of treatment changed and anti-VEGF injections became more common. Differences between treating hospitals emphasize the importance of centralizing the most severe cases.

Ophthalmological outcome of 6.5 years children treated for retinopathy of prematurity: a Swedish register study.

AIMS: To determine the ophthalmological outcome at 6.5 years of age in children treated for retinopathy of prematurity (ROP), and registered in the national Swedish National Register for ROP register. METHODS: Data on ROP, treatment and ophthalmological outcome were retrieved from the register. Visual acuity (VA), refractive errors and strabismus, together with visual impairment (VI) and any significant eye problem, defined as VA >0.5 logarithm of the minimal angle of resolution (logMAR) and/or strabismus and/or any refractive error were analysed. Risk factors such as sex, gestational age (GA), birth weight SD score, number of treatments and retreatments, postnatal age and postmenstrual age at first treatment were analysed. RESULTS: Follow-up data were available in 232 of 270 children born between 2007 and 2014 who had been treated for ROP. VI (VA >0.5 logMAR) was found in 32 (14%), strabismus in 82 (38%), refractive errors in 114 (52%) and significant eye problem in 143 (65%) children. Retreatment was a risk factor for VI and refractive errors. Male sex and neonatal brain lesion were risk factors for strabismus. An additional week of GA at birth reduced the risk for refractive errors, strabismus and significant eye problems. CONCLUSION: The results of the present study revealed a high number of eye problems in children treated for ROP, emphasising the need for long-term follow-up. Retreatment of ROP was a risk factor for VI, and emphasises the importance of an accurate first treatment for the long-term ophthalmological outcome.

Validation of DIGIROP models and decision support tool for prediction of treatment for retinopathy of prematurity on a contemporary Swedish cohort.

BACKGROUND/AIMS: Retinopathy of prematurity (ROP) is currently diagnosed through repeated eye examinations to find the low percentage of infants that fulfil treatment criteria to reduce vision loss. A prediction model for severe ROP requiring treatment that might sensitively and specifically identify infants that develop severe ROP, DIGIROP-Birth, was developed using birth characteristics. DIGIROP-Screen additionally incorporates first signs of ROP in different models over time. The aim was to validate DIGIROP-Birth, DIGIROP-Screen and their decision support tool on a contemporary Swedish cohort. METHODS: Data were retrieved from the Swedish national registry for ROP (2018-2019) and two Swedish regions (2020), including 1082 infants born at gestational age (GA) 24 to <31 weeks. The predictors were GA at birth, sex, standardised birth weight and age at the first sign of ROP. The outcome was ROP treatment. Sensitivity, specificity and area under the receiver operating characteristic curve (AUC) with 95% CI were described. RESULTS: For DIGIROP-Birth, the AUC was 0.93 (95% CI 0.90 to 0.95); for DIGIROP-Screen, it ranged between 0.93 and 0.97. The specificity was 49.9% (95% CI 46.7 to 53.0) and the sensitivity was 96.5% (95% CI 87.9 to 99.6) for the tool applied at birth. For DIGIROP-Screen, the cumulative specificity ranged between 50.0% and 78.7%. One infant with Beckwith-Wiedemann syndrome who fulfilled criteria for ROP treatment and had no missed/incomplete examinations was incorrectly flagged as not needing screening. CONCLUSIONS: DIGIROP-Birth and DIGIROP-Screen showed high predictive ability in a contemporary Swedish cohort. At birth, 50% of the infants born at 24 to <31 weeks of gestation were predicted to have low risk of severe ROP and could potentially be released from ROP screening examinations. All routinely screened treated infants, excluding those screened for clinical indications of severe illness, were correctly flagged as needing ROP screening.

Prognostic Value of Parenteral Nutrition Duration on Risk of Retinopathy of Prematurity: Development and Validation of the Revised DIGIROP Clinical Decision Support Tool.

Importance: The prognostic impact of parenteral nutrition duration (PND) on retinopathy of prematurity (ROP) is not well studied. Safe prediction models can help optimize ROP screening by effectively discriminating high-risk from low-risk infants. Objective: To evaluate the prognostic value of PND on ROP; to update and validate the Digital ROP (DIGIROP) 2.0 birth into prescreen and screen prediction models to include all ROP-screened infants regardless of gestational age (GA) and incorporate PND; and to compare the DIGIROP model with the Weight, IGF-1, Neonatal, and ROP (WINROP) and Postnatal Growth and ROP (G-ROP) models. Design, Setting, and Participants: This retrospective study included 11 139 prematurely born infants from 2007 to 2020 from the Swedish National Registry for ROP. Extended Poisson and logistic models were applied. Data were analyzed from August 2022 to February 2023. Main Outcomes and Measures: Any ROP and ROP requiring treatment were studied in relation to PND. ROP treatment was the outcome in DIGIROP models. Sensitivity, specificity, area under the receiver operating characteristic curve, and adjusted OR (aOR) with 95% CI were the main measures. Internal and external validations were performed. Results: Of 11 139 screened infants, 5071 (45.5%) were girls, and the mean (SD) gestational age was 28.5 (2.4) weeks. ROP developed in 3179 infants (29%), treatment was given in 599 (5%), 7228 (65%) had PND less than 14 days, 2308 (21%) had PND for 14 days or more, and 1603 (14%) had unknown PND. PND was significantly correlated with ROP severity (Spearman r = 0.45; P < .001). Infants with 14 days or more of PND vs less than 14 days had faster progression from any ROP to ROP treatment (adjusted mean difference, -0.9 weeks; 95% CI, -1.5 to -0.3; P = .004). Infants with PND for 14 days or more vs less than 14 days had higher odds of any ROP (aOR, 1.84; 95% CI, 1.62-2.10; P < .001) and of severe ROP requiring treatment (aOR, 2.20; 95% CI, 1.73-2.80; P < .001). Among all 11 139 infants, the DIGIROP 2.0 models had 100% sensitivity (95% CI, 99.4-100). The specificity was 46.6% (95% CI, 45.6-47.5) for the prescreen model and 76.9% (95% CI, 76.1-77.7) for the screen model. G-ROP as well as the DIGIROP 2.0 prescreen and screen models showed 100% sensitivity on a validation subset (G-ROP: sensitivity, 100%; 95% CI, 93-100; DIGIROP prescreen: sensitivity, 100%; 95% CI, 93-100; DIGIROP screen: sensitivity, 100%; 95% CI, 93-100), whereas WINROP showed 89% sensitivity (95% CI, 77-96). Specificity for each prediction model was 29% (95% CI, 22-36) for G-ROP, 38% (95% CI, 32-46) for DIGIROP prescreen, 53% (95% CI, 46-60) for DIGIROP screen at 10 weeks, and 46% (95% CI, 39-53) for WINROP. Conclusion and Relevance: Based on more than 11 000 ROP-screened infants born in Sweden, PND of 14 days or more corresponded to a significantly higher risk of having any ROP and receiving ROP treatment. These findings provide evidence to support consideration of using the updated DIGIROP 2.0 models instead of the WINROP or G-ROP models in the management of ROP.

Development and validation of a new clinical decision support tool to optimize screening for retinopathy of prematurity.

BACKGROUND/AIMS: Prematurely born infants undergo costly, stressful eye examinations to uncover the small fraction with retinopathy of prematurity (ROP) that needs treatment to prevent blindness. The aim was to develop a prediction tool (DIGIROP-Screen) with 100% sensitivity and high specificity to safely reduce screening of those infants not needing treatment. DIGIROP-Screen was compared with four other ROP models based on longitudinal weights. METHODS: Data, including infants born at 24-30 weeks of gestational age (GA), for DIGIROP-Screen development (DevGroup, N=6991) originate from the Swedish National Registry for ROP. Three international cohorts comprised the external validation groups (ValGroups, N=1241). Multivariable logistic regressions, over postnatal ages (PNAs) 6-14 weeks, were validated. Predictors were birth characteristics, status and age at first diagnosed ROP and essential interactions. RESULTS: ROP treatment was required in 287 (4.1%)/6991 infants in DevGroup and 49 (3.9%)/1241 in ValGroups. To allow 100% sensitivity in DevGroup, specificity at birth was 53.1% and cumulatively 60.5% at PNA 8 weeks. Applying the same cut-offs in ValGroups, specificities were similar (46.3% and 53.5%). One infant with severe malformations in ValGroups was incorrectly classified as not needing screening. For all other infants, at PNA 6-14 weeks, sensitivity was 100%. In other published models, sensitivity ranged from 88.5% to 100% and specificity ranged from 9.6% to 45.2%. CONCLUSIONS: DIGIROP-Screen, a clinical decision support tool using readily available birth and ROP screening data for infants born GA 24-30 weeks, in the European and North American populations tested can safely identify infants not needing ROP screening. DIGIROP-Screen had equal or higher sensitivity and specificity compared with other models. DIGIROP-Screen should be tested in any new cohort for validation and if not validated it can be modified using the same statistical approaches applied to a specific clinical setting.

High rate and large intercentre variability in retreatment of retinopathy of prematurity in infants born <24 gestational weeks.

OBJECTIVE: Prematurity is a major risk factor for retinopathy of prematurity (ROP). We aimed to elucidate ROP prevalence, treatment and retreatment in infants born before 24 gestational age (GA) weeks in a Swedish cohort. METHODS AND ANALYSIS: Infants with completed ROP screening, born at <24 GA weeks, 2007-2018 in Sweden were included. Data of GA, birth weight (BW), sex, neonatal morbidities, maximal ROP stage, aggressive posterior ROP (APROP), ROP treatments, treatment modality and treatment centre were retrieved. RESULTS: In total, 399 infants, with a mean GA of 23.2 weeks (range 21.9-23.9) and a mean BW of 567 g (range 340-874), were included. ROP was detected in 365 (91.5%) infants, 173 (43.4%) were treated for ROP and 68 of 173 (39.3%) were treated more than once. As the first treatment, 142 (82.0%) received laser and 29 (16.1%) received intravitreal injection of antivascular endothelial growth factor (anti-VEGF). Retreatment was performed after first laser in 46 of 142 (32.4%) and in 20 of 29 (69.0%) after first anti-VEGF treatment. Retreatment rate was not associated with GA, BW or sex but with APROP, treatment method (anti-VEGF) and treatment centre where the laser was performed (p<0.001). Twenty eyes progressed to retinal detachment, and two infants developed unilateral endophthalmitis after anti-VEGF treatment. CONCLUSION: Infants, born at <24 weeks' GA, had high rates of treatment-warranting ROP and retreatments. Treatment centre highly influenced the retreatment rate after laser indicating that laser treatment could be improved in some settings.

New modifications of Swedish ROP guidelines based on 10-year data from the SWEDROP register.

BACKGROUND/AIMS: During the last decade, improved neonatal care has resulted in increased survival of the most immature infants and improved health of more mature infants. We hypothesise that this has affected incidence and treatment of retinopathy of prematurity (ROP), enabling guidelines for screening to be modified. METHODS: In Sweden, all infants with gestational age (GA) at birth ≤30 weeks are screened for ROP. Results are registered in a web-based register, Swedish National ROP Register, with a coverage rate of 97%. Incidence of ROP and frequency of treatment, aspects on natural course of ROP and number of examinations, are calculated in relation to GA at birth in infants born during 2008-2017. RESULTS: Of 7249 infants, 31.9% (2310) had ROP and 6.1% (440) were treated. No infant with GA 30 weeks was treated. Incidence of ROP remained similar, but frequency of treatment increased (p=0.023). Over time, GA and birth weight were reduced in infants with ROP and with treated ROP. In the most immature infants, postmenstrual age was lower and postnatal age was higher when any ROP and stage 3 ROP were first detected (p<0.001). At treatment, postmenstrual but not postnatal age of the infant was associated with GA (p<0.001). During the 10-year period, 46 038 examinations were performed. CONCLUSION: Modification of Swedish guidelines is proposed, including only infants with a GA of <30 weeks and postponing the first examination with 1 week in infants with GA 26-29 weeks. This would spare many infants from stressful examinations and reduce eye examinations with at least 20%.

Prevalence of Severe Visual Disability Among Preterm Children With Retinopathy of Prematurity and Association With Adherence to Best Practice Guidelines.

Importance: Retinopathy of prematurity (ROP) can cause severe visual disability even in high-resource settings. A better understanding of the prevalence and processes leading to ROP-induced severe visual impairment may help health care professionals design preventive measures. Objectives: To determine the prevalence of severe visual disability among children born preterm in Sweden, evaluate adherence to best practice, and determine the health system's structural capacity. Design, Setting, and Participants: Population-based, nationwide cohort study of 1 310 227 children born between January 1, 2004, and December 31, 2015, in Sweden, of whom 17 588 (1.3%) were born very preterm (<32 weeks of gestation). Children born preterm with a verified diagnosis of severe visual disability had their medical records reviewed for evaluation of ROP screening, diagnosis, and treatment. In addition, a questionnaire on structural capacity was sent to all ophthalmology departments. Exposures: Stages 4 and 5 ROP. Main Outcomes and Measures: The primary outcome was prevalence of severe visual disability (visual acuity ≤20/200 for both eyes) associated with ROP stages 4 and 5. Secondary outcomes included adherence to national ROP guidelines using a predefined protocol with 15 key performance indicators for screening, diagnosis, and treatment; assessment of whether visual disability was deemed avoidable; and examination of structural capacity, including information on equipment and facilities, staffing, and patients. Results: Seventeen children (10 boys; mean [range] birth weight, 756 [454-1900] g; mean [range] gestational age, 25 [22-33] weeks) became severely visually disabled because of ROP, corresponding to a prevalence of 1 in 1000 very preterm infants (<32 weeks of gestational age) and 1 in 77 000 for all live births. Severe visual impairment was considered potentially avoidable in 11 of 17 affected children (65%) owing to untimely or no screening, missed diagnosis, or untimely and suboptimal treatment. Large variations in infrastructure (facilities, guidelines, staffing, and annual patient numbers) were also identified as potential contributors to these findings. Conclusions and Relevance: Retinopathy of prematurity still causes severe visual disability in Sweden, resulting in 1 affected infant per 1000 very preterm births. In most of these infants, noncompliance with best practice was identified, indicating that a significant proportion could have been avoided.

Increased frequency of retinopathy of prematurity over the last decade and significant regional differences.

PURPOSE: Retinopathy of prematurity (ROP) causes childhood blindness globally in prematurely born infants. Although increased levels of oxygen supply lead to increased survival and reduced frequency of cerebral palsy, increased incidence of ROP is reported. METHODS: With the help of a Swedish register for ROP, SWEDROP, national and regional incidences of ROP and frequencies of treatment were evaluated from 2008 to 2015 (n = 5734), as well as before and after targets of provided oxygen changed from 85-89% to 91-95% in 2014. RESULTS: Retinopathy of prematurity (ROP) was found in 31.9% (1829/5734) of all infants with a gestational age (GA) of <31 weeks at birth and 5.7% of the infants (329/5734) had been treated for ROP. Analyses of the national data revealed an increased incidence of ROP during the 8-year study period (p = 0.003), but there was no significant increase in the frequency of treatment. There were significant differences between the seven health regions of Sweden, regarding both incidence of ROP and frequency of treatment (p < 0.001). Comparison of regional data before and after the new oxygen targets revealed a significant increase in treated ROP in one region [OR: 2.24 (CI: 1.11-4.49), p = 0.024] and a borderline increase in one other [OR: 3.08 (CI: 0.99-9.60), p = 0.052]. CONCLUSION: The Swedish national ROP register revealed an increased incidence of ROP during an 8-year period and significant regional differences regarding the incidence of ROP and frequency of treatment.

Aggressive Posterior Retinopathy of Prematurity Is Associated with Multiple Infectious Episodes and Thrombocytopenia.

BACKGROUND: The most severe form of rapidly progressing retinopathy of prematurity (ROP) is termed aggressive posterior ROP (APROP). APROP frequently causes severe visual impairment in affected preterm infants despite timely and appropriate laser treatment. OBJECTIVES: We investigated the postnatal characteristics associated with APROP development in a national Swedish cohort. METHODS: This retrospective, 1:1 matched case-control study included all infants that developed APROP in zone 1 (n = 9) between 2008 and 2012. Control infants, matched for gestational age and birth weight, developed ROP no worse than stage 2 (n = 9). We retrieved data from medical records on infant birth characteristics, postnatal morbidities, and blood analyses from birth to the first ROP treatment. Infectious episodes included sepsis, C-reactive protein ≥10 mg/l, and other clinical signs of infection that required antibiotic treatment. A platelet count <100 × 109/l was considered to be thrombocytopenia. RESULTS: All APROP cases postnatally developed at least two infectious episodes, one in the first month and one around the time of ROP diagnosis. All APROP cases exhibited thrombocytopenia in the first month, and 6/9 exhibited thrombocytopenia around the time of ROP diagnosis. Compared to the controls, APROP cases more frequently developed necrotizing enterocolitis (8/9 vs. 1/9; p < 0.01) and sepsis (9/9 vs. 3/9; p < 0.01), and they had significantly lower median platelet counts (90 × 109/l, range 4-459, vs. 158 × 109/l, range 20-500; p < 0.001). CONCLUSION: Multiple infectious episodes and thrombocytopenia, particularly around the time of ROP diagnosis, were associated with APROP development.

Five years of treatment for retinopathy of prematurity in Sweden: results from SWEDROP, a national quality register.

BACKGROUND/AIMS: Retinopathy of prematurity (ROP) is a sight-threatening disease, requiring efficient screening and treatment. The present study aims to describe various aspects on treatment for ROP in Sweden. METHODS: Data on treatment for ROP in infants born in 2008-2012 were extracted from Swedish national register for retinopathy of prematurity, a web-based national register. RESULTS: During 2008-2012, 3488 infants with a gestational age (GA) at birth of <31 weeks had been screened for ROP in Sweden. Altogether, 30.3% (1057/3488) of the infants developed ROP and 5.2% (181/3488) were treated. Type 1 ROP was found in at least one eye in 83.2% (149/179) of the treated infants. One third of the eyes (32.2% right, 29.9% left eyes) were treated more than once. Laser was the only treatment in 90% of the eyes. Mean number of laser spots at first laser session was 1177 and 1386 in right and left eyes, respectively. Number of laser spots correlated negatively with GA at birth (p=0.01). There was no change in frequency of treatment or number of laser spots during the 5-year period. Anti-vascular endothelial growth factor injections were performed in 28 eyes, encircling band was used in five eyes and vitrectomies were performed in seven eyes. Twenty-six retinal surgeons performed 9.4 (range 1-37) treatment sessions in the 181 infants. CONCLUSIONS: The present study reveals similar incidences of ROP and frequencies of treatment during the 5-year study period. Many surgeons were involved in treatment of a rather limited number of infants. The results call for national discussions on organisation of ROP treatment.

Evaluation of new guidelines for ROP screening in Sweden using SWEDROP - a national quality register.

PURPOSE: To investigate whether recent Swedish guidelines for Retinopathy of Prematurity (ROP) screening, that is, a gestational age (GA) at birth of <31 weeks (w), are applicable in a new national cohort of prematurely born infants. METHODS: SWEDROP is a national register for ROP, initiated in 2006. The present paper reports on data from the register on various aspects of screening for ROP in infants born between 2010 and 2011 and compares the results with those for a previously published cohort born between 2008 and 2009. RESULTS: During the study period, 1744 infants were screened for ROP. Mean GA was 28.4 w (22-31), and mean birth weight was 1239 g (382-2615). Screening started at postnatal age (PNA) 5.4 w (0.4-13.3) and postmenstrual age (PMA) 33.8 w (24.9-50.1) Mean number of examinations was 5.4 per infant (1-38). Mild (stages 1-2) and severe (≥ stage 3) ROP was found in 15.4% and 8.7%, respectively. Treatment was performed in 4.2% (73/1744) of the infants, but in none with a GA of 30 weeks or more. The first treatment was performed at a mean PNA and PMA of 12.7 w (7.7-25.4) and 37.4 w (32.1-51.4), respectively. CONCLUSIONS: Recently introduced new guidelines for ROP screening in Sweden remain applicable. Reassuringly, in infants born between 2010 and 2011, incidence of ROP, frequency and timing of treatment, frequency and timing of examinations and national coverage of ROP screening remained almost identical to those for a previous cohort from 2008 to 2009. The two SWEDROP cohorts provide a basis for discussion among Swedish ophthalmologists and neonatologists on the question of further lowering the upper screening limit with 1 week.

Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment.

Several cases with microscopically visible, terminal 6p deletions have been described, and a distinct clinical phenotype has emerged, including developmental delay, congenital heart malformations, ocular abnormalities, hearing loss and a characteristic facial appearance. We report a patient with a submicroscopic 6p deletion, detected by subtelomeric screening using fluorescence in situ hybridisation. This girl presented with typical facial dysmorphic features, hearing impairment, malformation of the anterior eye segment, an ASD and severe language impairment. However, her cognitive functions were within the normal range. Detailed FISH analysis with 20 BAC probes covering the distal 6p25 region estimated the size of the terminal deletion to 2.1 Mb, and thus this case narrows down the critical region for the 6p phenotype. The forkhead transcription factor gene FOXC1, involved in a spectrum of anterior eye chamber disorders, is deleted in this patient, together with several characterised and putative genes with yet unknown function.

Regional differences in screening for retinopathy of prematurity in infants born before 27 weeks of gestation in Sweden--the EXPRESS study.

PURPOSE: The primary aim was to analyse regional incidences of retinopathy of prematurity (ROP) and frequencies of treatment and their relation to perinatal risk factors during a 3-year period. A secondary aim was to study adherence to the study screening protocol in the different regions. METHODS: A population-based study of neonatal morbidity in extremely preterm infants in Sweden (EXPRESS) was performed during 2004-2007. Screening for ROP was to start at postnatal age 5 weeks and to continue weekly until the retina was completely vascularized or until regression of ROP. Logistic regression analyses were used for evaluation of differences in incidence of Any ROP, ROP 3 or more and ROP Type 1 between the seven regions of the country. RESULTS: The regional incidence of ROP varied between 54% and 92% for Any ROP, between 25% and 43% for ROP stage 3 or more and between 8% and 23% of infants with ROP Type 1, all of whom were treated. There was no significant difference between the regions regarding ROP Type 1, even when adjusting for known risk factors for ROP. CONCLUSION: The heterogeneity between the regions regarding the incidence of ROP was reduced with increasing severity of ROP, and there was no heterogeneity regarding frequency of treatment for ROP, which is the most important issue for the children. We cannot exclude observer bias regarding mild ROP and ROP stage 3 in this study.

Swedish national register for retinopathy of prematurity (SWEDROP) and the evaluation of screening in Sweden.

OBJECTIVES: To evaluate screening for retinopathy of prematurity (ROP) in Sweden and to investigate possible modifications of the present screening guidelines. METHODS: Infants in Sweden with a gestational age (GA) of 31 weeks + 6 days or less are screened for ROP. Data from the Swedish national register for ROP (SWEDROP) during 2008 and 2009 were extracted and compared with a national perinatal quality register. RESULTS: In SWEDROP, there were 1791 infants born before a GA of 32 weeks from January 1, 2008, through December 31, 2009. Another 70 infants were registered in the perinatal quality register but not in SWEDROP (dropout rate, 3.8% [70 of 1861 infants]). Seven infants died before termination of screening. In the final study cohort (1784 infants), 15.6% had mild ROP and 8.5% had severe ROP. Treatment was performed in 4.4% of the infants, none of whom had a GA at birth of more than 28 weeks. Nine infants with a GA of more than 28 weeks at birth developed stage 3 ROP, which regressed spontaneously. The total number of examinations was 9286 (964 in infants with a GA of 31 weeks), and the mean (range) number of examinations of each infant was 5.2 (1-30). CONCLUSIONS: The SWEDROP, a quality register for ROP, has a national coverage (ie, participation) of 96%. Data from 2008 to 2009 show that it seems possible to reduce the upper limit for screening in Sweden by 1 week, including only infants with a GA of 30 weeks + 6 days or less. However, such a change should be combined with a strong recommendation to neonatologists to refer also severely ill and more "mature" infants.

Screening for retinopathy of prematurity in infants born before 27 weeks' gestation in Sweden.

OBJECTIVE: To analyze screening for retinopathy of prematurity (ROP) during a 3-year period in a national cohort of infants born before 27 weeks' gestation. METHODS: A national prospective study of neonatal morbidity in extremely preterm infants was performed in Sweden between April 1, 2004, and March 31, 2007. Screening for ROP was to start in the fifth postnatal week and to continue weekly until complete vascularization of the retina or until regression of ROP. RESULTS: The first eye examination was performed no later than the sixth postnatal week in 84.8% of 506 infants, and the last examination was performed at postmenstrual age (PMA) of 38 weeks or later in 96.2% of infants. The mean and median numbers of days between examinations in the total cohort were 8.6 and 7.9 days, respectively (range, 1-27.8 days), and the mean and median numbers of examinations were 12 and 10, respectively. Most infants were treated during a limited period (eg, at PMA of 39 weeks, 75.0% of infants had been treated). CONCLUSIONS: The objective of screening for ROP is timely detection of ROP before reaching treatment of criteria, ie, type 1 ROP, according to the Early Treatment for ROP recommendations. In our population of infants born before 27 weeks' gestation, the first examination could safely be postponed until PMA of 31 weeks because the onset of ROP stage 3 did not occur before then and criteria for treatment were not reached before PMA of 32 weeks. Gestational age at birth and PMA at the time of examination should be considered when deciding when and where the next examination should be performed.

Treatment for retinopathy of prematurity in infants born before 27 weeks of gestation in Sweden.

AIMS: To study various aspects of treatment for retinopathy of prematurity (ROP) in a Swedish population of extremely preterm infants born before 27 weeks of gestation. METHODS: A national, prospective and population-based study was performed in Sweden from 1 April 2004 to 31 March 2007. The criteria for the treatment of ROP accorded with the recommendations of the Early Treatment for Retinopathy of Prematurity Cooperative Group. RESULTS: Twenty per cent of the infants (99/506) were treated for ROP. The likelihood of reaching treatment criteria nearly doubled for each week of reduction in gestational age at birth. The first treatment was performed at an earlier postmenstrual age in the most immature infants. One third of the infants had more than one session of laser treatment. CONCLUSIONS: A high percentage of these extremely preterm infants required treatment for ROP. The likelihood of reaching treatment criteria increased with a decline in gestational age at birth. Although only a few infants progressed to ROP stages 4 and 5, the findings of this study indicate a potential for improvement in the treatment routines, both regarding the timing and number of laser spots at the first treatment.