The VASCERN PPL working group patient pathway for primary and paediatric lymphoedema.

Lymphoedema is caused by an imbalance between fluid production and transport by the lymphatic system. This imbalance can be either caused by reduced transport capacity of the lymphatic system or too much fluid production and leads to swelling associated with tissue changes (skin thickening, fat deposition). Its main common complication is the increased risk of developing cellulitis/erysipelas in the affected area, which can worsen the lymphatic function and can be the cause of raised morbidity of the patient if not treated correctly/urgently. The term primary lymphoedema covers a group of rare conditions caused by abnormal functioning and/or development of the lymphatic system. It covers a highly heterogeneous group of conditions. An accurate diagnosis of primary lymphoedema is crucial for the implementation of an optimal treatment plan and management, as well as to reduce the risk of worsening. Patient care is diverse across Europe, and national specialised centres and networks are not available everywhere. The European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN) gathers the best expertise in Europe and provide accessible cross-border healthcare to patients with rare vascular diseases. There are six different working groups in VASCERN, which focus on arterial diseases, hereditary haemorrhagic telangiectasia, neurovascular diseases, lymphoedema and vascular anomalies. The working group Paediatric and Primary Lymphedema (PPL WG) gathers and shares knowledge and expertise in the diagnosis and management of adults and children with primary and paediatric lymphoedema. The members of PPL WG have worked together to produce this opinion statement reflecting strategies on how to approach patients with primary and paediatric lymphoedema. The objective of this patient pathway is to improve patient care by reducing the time to diagnosis, define the best management and follow-up strategies and avoid overuse of resources. Therefore, the patient pathway describes the clinical evaluation and investigations that lead to a clinical diagnosis, the genetic testing, differential diagnosis, the management and treatment options and the patient follow up at expert and local centres. Also, the importance of the patient group participation in the PPL WG is discussed

Pubertal development in ICSI children

To date, information on the pubertal development of adolescents born after ICSI is scarce, since the very first cohort is only now reaching young adulthood. In this study, pubertal development at the age of 14 was characterized in a longitudinally followed cohort of ICSI-conceived teenagers and compared with that of a spontaneously conceived (SC) control group. Pubertal development was assessed by Tanner staging (breast, genital and pubic hair development) and age at menarche in 217 singleton ICSI-conceived children (116 boys, 101 girls) and 223 SC peers (115 boys, 108 girls). ICSI teenagers were part of a previously published cohort followed since birth; controls were a cross-sectional sample recruited from schools. Differences in pubertal development between ICSI and SC children were analyzed with logistic regression of current status data. Mean age at menarche was similar in ICSI and SC girls (13.1 1.2 versus 13.1 1.4 years; P 0.8). Breast developmental at the age of 14 years was less advanced in ICSI females compared with SC females, even after adjustment for demographic (age, BMI), genetic (maternal age at menarche), social (maternal educational level) and early life factors (birthweight, gestational ageand maternal parity) [odds ratio (OR) 0.5; 95 confidence interval (CI) 0.30.8]. After adjustment, genital development in the 14-year-old boys was comparable in the ICSI and SC groups (OR 1.1; 95 CI 0.71.8), pubic hair development was comparable in the ICSI and SC groups, for both males (OR 0.9; 95 CI 0.71.6) and females (OR 0.7; 95 CI 0.41.3). We found that pubertal development, characterized by menarche, genital development in males and pubic hair development in males and females, was comparable in the ICSI and SC groups. Breast developmental was less advanced in ICSI females compared with SC peers, even after adjustment for known potential confounders. In order to confirm that progression through subsequent stages of pubertal development occurs on a timely basis in ICSI teenagers, long-term follow-up studies up to adulthood are require

ESHRE PGD Consortium data collection XIII: Cycles from January to December 2010 with pregnancy follow-up to October 2011

STUDY QUESTION: How do data in the 13th annual data collection (Data XIII) of the European Society of Human Reproduction and Embryology (ESHRE) PGD Consortium compare with the cumulative data for collections I-XII? SUMMARY ANSWER: The 13th retrospective collection represents valuable data on PGD/PGS cycles, pregnancies and children: the main trend observed is the decrease in the routine implementation of PGS. WHAT IS KNOWN ALREADY: Since 1999, the PGD Consortium has collected, analysed and published 12 data sets and an overview of the first 10 years of data collections. STUDY DESIGN, SIZE, DURATION: Data were collected from each participating centre using a FileMaker Pro database (versions 5-11). Separate predesigned FileMaker Pro files were used for the cycles, pregnancies and baby records. The study documented cycles performed during the calendar year 2010 and follow-up of the pregnancies and babies born which resulted from these cycles (until October 2011). PARTICIPANTS/MATERIALS, SETTING, METHODS: Data were submitted by 62 centres (full PGD Consortium members). The submitted data were thoroughly analysed to identify incomplete data entries and corrections were requested from the participating centres. Records remaining with incomplete or inconsistent data were excluded from the calculations. Corrections, calculations and tables were made by expert co-authors. MAIN RESULTS AND THE ROLE OF CHANCE: For data collection XIII, 62 centres reported data for 5780 cycles with oocyte retrieval (OR), along with details of the follow-up on 1503 pregnancies and 1152 babies born. A total of 1071 OR were reported for chromosomal abnormalities, 108 OR for sexing for X-linked diseases, 1574 OR for monogenic diseases, 2979 OR for preimplantation genetic screening and 48 OR for social sexing. LIMITATIONS, REASONS FOR CAUTION: The findings apply to the 62 participating centres and may not represent worldwide trends in PGD. WIDER IMPLICATIONS OF THE FINDINGS: The annual data collections provide an important resource for data mining and for following trends in PGD practice. STUDY FUNDING/COMPETING INTEREST(S): None. © The Author 2015. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved

Blood pressure in ICSI-conceived adolescents

Do young adolescents conceived by ICSI display a higher blood pressure than spontaneously conceived (SC) adolescents? In our study, 14-year-old male and female ICSI teenagers were not found to have increased blood pressure at rest. Only limited data are available regarding the cardiovascular risk of children born after assisted conception and up till now, no data on the cardiovascular health in pubertal children conceived by ICSI have been published. In this study, resting blood pressure and blood pressure response to a psychological stressor were measured in a cohort of 14-year-old teenagers conceived by ICSI and compared the results with those of a group of SC peers. In this cross-sectional study, resting blood pressure measurements were available from 217 singleton ICSI children (116 boys, 101 girls) and 223 singleton control children born after spontaneous conception (115 boys, 108 girls). Continuous blood pressure measurements, performed during a psychological stress test, were available for only 67 ICSI and 38 SC children. The study group comprised adolescents conceived by ICSI predominantly because of male factor infertility and they were part of a previously published cohort followed since birth; controls were a cross-sectional sample of peers born to fertile parents and recruited from comparable schools as those attended by the ICSI teenagers. Response rates were 56 (tested/reached) in the ICSI group and 50 (agreed/eligible) in the SC group, but information regarding health could be obtained in 63 and 72 of the ICSI and SC children, respectively. ICSI girls had a comparable resting systolic (109 9 mmHg) and diastolic (64 6 mmHg) blood pressure in comparison with girls in the SC group (111 9 mmHg, P 0.2 and 66 7 mmHg, P 0.05), even after adjustment for age and height. After adjustment for current body characteristics, early life and parental background factors, systolic and diastolic blood pressure remained comparable in both groups. In ICSI boys, a slightly lower systolic (113 10 mmHg), but comparable diastolic (64 6 mmHg) resting blood pressure was found in comparison with the SC group (116 9 mmHg; P 0.04 and 65 5 mmHg; P 0.1). After adjustment for height and age, systolic and diastolic blood pressure were comparable in both groups (P 0.7 and P 0.6). After correction for current body characteristics, early life and parental factors, ICSI and SC boys still had comparable systolic (difference in ICSI versus SC: 1.1 mmHg; 95 CI: 3.81.6; P 0.4) and diastolic (difference in ICSI versus SC: 1.2 mmHg; 95 CI: 3.20.7; P 0.2) blood pressure measurements. In the small subsample of girls and boys with continuous blood pressure readings, the systolic and diastolic blood pressure response to the stress test was not significantly different between the ICSI and SC groups even after taking into account the baseline values. Despite the rather low response rate in the ICSI group and the fact that no information on current health status could be obtained from more than a quarter of the eligible comparison group, the non-participating analysis in the ICSI as well in the SC group did not reveal differences between participating and non-participating children regarding clinical characteristics. The negative results for the sub-analysis on blood pressure response to stress should be interpreted with caution, because these data were available for only a small number of children, and the analysis may be underpowered. This result can only rule out a large effect on blood pressure responsiveness to a psychological stressor. Although our sample size appears to be appropriate, our results need confirmation by others and in larger cohorts when more data become available. Our results are the first described ever in ICSI offspring, born to parents suffering from predominantly male factor infertility. This study was supported by research grants from Fonds voor Wetenschappelijk Onderzoek Vlaanderen, Onderzoeksraad Vrije Universiteit Brussel and Wetenschappelijk Fonds Willy Gepts. Unconditional grants from MSD Belgium, Merck International, IBSA Institut Biochimique and Ferring International Center are kindly acknowledge

Metabolic Syndrome and Its Components in Young Adults Conceived by ICSI

Background. Intracytoplasmic sperm injection (ICSI) conception presents the early embryo with a radically different environment, which may lead to permanent alterations to key cardiometabolic processes. Blood pressure, indicators of insulin resistance, and lipid profiles have previously been studied in offspring born after in vitro fertilisation (IVF) and ICSI, with conflicting findings. Also, results in young adults born after ICSI are lacking. Aim. We investigated if young adult men and women conceived by ICSI more frequently have metabolic syndrome and its individual features in comparison to spontaneously conceived controls. Design. Cardiometabolic and anthropometric parameters from 126 longitudinally followed young adults conceived by ICSI were compared to those of 133 controls. Results. At age 18 years, only 1 of the participants displayed the metabolic syndrome (1 control woman). Mean concentrations of total cholesterol, triglycerides, insulin, HOMA-IR, and blood pressure were comparable between the ICSI conceived and control participants. A higher proportion (19.6%) of men conceived by ICSI had low (<40 mg/dl) HDL cholesterol compared to controls (5.6%). Conclusions. While men conceived by ICSI, but not women, had lower mean HDL cholesterol concentrations in comparison to controls, other markers of the metabolic syndrome were not affected by the mode of conception