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Aim/background: Patient-reported outcome measurement instruments are important tools in understanding a breast reconstruction's impact on the patients' quality of life. A psychometric validation is essential before applying a patient-reported outcome measurement instrument in clinical practice and research. The BREAST-Q is a specific, validated questionnaire for breast surgery outcomes that has been translated from English to Danish. It consists of 167 items in 7 pre-operative scales and 15 post-operative scales. This validation study aims to validate the Danish BREAST-Q reconstruction module., Material and Methods: Eligible women were included from January 2019 to June 2020. Multiple-item scales with summated scores and more than 40 complete responses were eligible for psychometric validation, and psychometric analyses examined reliability and validity using Rasch Analyses and Classical Test Theory. Measurements included test for local response dependence, item fit, differential item functioning, and more. Clinical validity was assessed using known-groups hypotheses., Results: We obtained 115 and 201 complete responses pre-and postoperatively, respectively. We validated 120 items in four preoperative and nine postoperative scales. The Rasch analyses disclosed evidence of local response dependence in eight scales. Chronbach's α ranged 0.81-0.95 after adjustment. Item fit was evaluated using item-restscore correlations and showed good fit in 98 % of items. Differential Item Functioning was found in four items but had very little effect on the model. Clinical validity was supported by the know-group analyses., Discussion/conclusion: The Danish BREAST-Q reconstruction module has good acceptability, feasibility and validity, and adequate reliability. The results support the use in a Danish population., Competing Interests: Conflict of interests The authors have no conflict of interests., (Copyright © 2025 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Assisted reproductive technology (ART) has experienced dramatic progress over the last 30 years, and gamete donation is routine in fertility clinics. Major advances in genetic diagnostics are part of this development due to the ability to analyze multiple genes or whole genomes fast and to an affordable prize. This requires knowledge and capability to evaluate genetic variants correctly in a clinical setting. Here we report a Menkes disease case, born after ART, where genetic screening and variant scoring failed to identify an egg donor as carrier of this fatal X-linked disorder. The gene variant is a deletion of a single base pair leading to a frameshift and premature termination of the protein, predicted to result in no or severely diminished function. The variant would be classified as likely pathogenic (class 4) and should be readily detectable by molecular genetic screening techniques. We wish to highlight this case to prevent future similar cases. IVI Igenomix has developed and embarked on an ambitious screening program to detect and prevent a large number of inherited severe childhood disorders in ART pregnancies. The company has recently achieved ISO 15189 certification with competence to evaluate and deliver timely, accurate, and reliable results. Failure to identify a pathogenic variant in the ATP7A gene leading to birth of two boys with Menkes disease invokes the required procedures to screen and detect disease-causing gene variants. This calls for ethical and legal considerations in ART diagnostics to prevent fatal errors like the present., (© 2023. The Author(s).)

Risk of genetic diseases with autosomal recessive or X-linked inheritance can be unknown to prospective parents until an affected child is born. New technology has enabled carrier screening for hundreds of genetic diseases (expanded carrier screening, ECS). I Denmark, each year estimated 100-180 children are born affected with a serious condition which could have been detected with ECS of the parents. This review describes the considerations and perspectives of a systematic genetic screening programme for prospective parents in the Danish healthcare system.

Information regarding hereditary disease predisposition is generally inaccessible for adoptees. The lack of family history restricts access to various surveillance programmes and the overall health of the adoptee. Genetic screening of asymptomatic adoptees could be a compensational tool. However, variant classification is difficult, even more so in certain ethnic groups and in cases where there is no knowledge of family history, as summarised in this review. The usefulness of genetic screening of asymptomatic adoptees is still unknown and requires further research for clarification.

New technology for genetic testing results in more precise diagnostics and individualised treatment but also identification of variants in genes with unknown association to disease or variants with uncertain significance. Genetic knowledge may involve preconception genetic testing to reduce the risk of passing serious gene variants on to the foetus. Prenatal diagnostics and whole genome sequencing in childhood have also benefitted from the new technology, but ethical dilemmas such as diagnosing a child with a late-onset disorder and potentially harm the child's right to an open future arise.

Direct-to-consumer genetic tests are sold over the internet to consumers all over the world - including Denmark. No regulation of these tests has been introduced neither in Denmark nor in Europe, even though they have been on the market since 2007. Such tests have several advantages, but indeed also a long list of potential disadvantages, which are most often ignored, and among these is insufficient training of general practitioners in performing the necessary counselling but also the risk of increased expenses to unnecessary follow-up consultations.