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Perimetry is important in the management of children with glaucoma, but there is limited evidence-based guidance on its use. We report an expert consensus-based study to update guidance and identify areas requiring further research.

Experts were invited to participate in a modified Delphi consensus process. Panel selection was based on clinical experience of managing children with glaucoma and UK-based training to minimise diversity of view due to healthcare setting. Questionnaires were delivered electronically, and analysed to establish ‘agreement’. Divergence of opinions was investigated and resolved where possible through further iterations.

7/9 experts invited agreed to participate. Consensus (≥5/7 (71%) in agreement) was achieved for 21/26 (80.8%) items in 2 rounds, generating recommendations to start perimetry from approximately 7 years of age (IQR 6.75-7.25), and use qualitative methods in conjunction with automated reliability indices to assess test quality. There was a lack of agreement about dn individuals’ lifetime, highlighting the need for further research.

To report the prevalence of posterior vitreous attachment (PVA) in patients with idiopathic epiretinal membrane (iERM) and to determine associated preoperative predictive factors.

Retrospective observational case series of 408 eyes who underwent surgery for iERM without vitreomacular traction. The status of the posterior hyaloid was assessed intraoperatively. Predictive factors were analysed using univariate and multivariate logistic regression. We also evaluated the effect of PVA on the anatomical and functional outcomes of surgery.

Eighty-two (20.1%) eyes were found to have an undetached posterior hyaloid during vitrectomy. In multivariate analysis, axial length (AL) and lens status were strongly associated with the posterior vitreous status (p = 0.031 and p = 0.048). The odds of having a PVA decreased by a factor 0.81 per mm of AL (95% CI, 0.66-1.00). Phakic eyes had a 2.88-fold increased risk of exhibiting PVA compared to those with previous cataract extraction (95% CI, 1.10-7.52). The presence of PVA did not have any effect on postoperative anatomical and functional outcomes. In contrast, we found that eyes with shorter axial length, low preoperative visual acuity and disruption of the ellipsoid zone exhibited worse visual recovery (p = 0.006, p < 0.001 and p = 0.037).

PVA was observed in 20.1% of eyes undergoing vitrectomy for iERM. Shorter AL and phakic status were strong predictive factors of PVA in those eyes. see more However, the morphological features and the surgical prognosis of iERMs with PVA did not differ from those with posterior vitreous detachment.

PVA was observed in 20.1% of eyes undergoing vitrectomy for iERM. Shorter AL and phakic status were strong predictive factors of PVA in those eyes. However, the morphological features and the surgical prognosis of iERMs with PVA did not differ from those with posterior vitreous detachment.

Of 86,902 prenatal genome-wide cell-free DNA (cfDNA) screening tests, 4,121 were positive for a chromosome abnormality. This study examines 490 cases screen-positive for one or more subchromosomal copy-number variants (CNV) from genome-wide cfDNA screening.

Cases positive for one or more subchromosomal CNV from genome-wide cfDNA screening and diagnostic outcomes were compiled. Diagnostic testing trends were analyzed, positive predictive values (PPVs) were calculated, and the type of chromosomal abnormalities ultimately confirmed by diagnostic testing were described.

CNVs were identified in 0.56% of screened specimens. Of the 490 cases screen-positive for one or more CNV, diagnostic outcomes were available for 244 cases (50%). The overall PPV among the cases with diagnostic outcomes was 74.2% (95% CI 68.1-79.5%) and 71.8% (95% CI 65.5-77.4%) for “fetal-only” events. Overall, isolated CNVs showed a lower PPV of 61.0% (95% CI 52.5-68.8%) compared to complex CNVs at 93.9% (95% CI 86.6-97.5%). Isolated deletions/duplications and unbalanced structural rearrangements were the most common diagnostic outcomes when isolated and complex CNVs were identified by cfDNA screening, respectively.

Genome-wide cfDNA screening identifies chromosomal abnormalities beyond the scope of traditional cfDNA screening, and the overall PPV associated with subchromosomal CNVs in cases with diagnostic outcomes was >70%.

70%.Preconception carrier screening offers couples the possibility to receive information about the risk of having a child with a recessive disorder. Since 2016, an expanded carrier screening (ECS) test for 50 severe autosomal recessive disorders has been available at Amsterdam Medical Center, a Dutch university hospital. This mixed-methods study evaluated the experiences of couples that participated in the carrier screening offer, including high-risk participants, as well as participants with a general population risk. All participants received genetic counselling, and pre- (n = 132) and post-test (n = 86) questionnaires and semi-structured interviews (n = 16) were administered. The most important reason to have ECS was to spare a future child a life with a severe disorder (47%). The majority of survey respondents made an informed decision (86%), as assessed by the Multidimensional Measure of Informed Choice. Among the 86 respondents, 27 individual carriers and no new carrier couples were identified. Turn-around time of the test results was considered too long and costs were perceived as too high. Overall, mean levels of anxiety were not clinically elevated. High-risk respondents (n = 89) and pregnant respondents (n = 13) experienced higher levels of anxiety before testing, which decreased after receiving the test result. Although not clinically significant, distress was on average higher for carriers compared to non-carriers (p  less then  0.0001). All respondents would opt for the test again, and 80.2% would recommend it to others. The results suggest that ECS should ideally be offered before pregnancy, to minimise anxiety. This study could inform current and future implementation initiatives of preconception ECS.