Prenatal Genetic Counseling in Congenital Anomalies

The impact of genetic variability on embryogenesis and fetus development established medical genetics as essential for the prevention of congenital anomalies, early detection and appropriate management. Advances in ultrasonography equipment and technique allow early detection of many congenital malformations. In addition, genetic testing can be performed in a prenatal setting on a variety of biological samples obtained by invasive and noninvasive procedures: chorionic villus sampling, amniocentesis, cordocentesis, or maternal blood collection (i.e., cell free fetal DNA). In the past, only a small percentage of congenital anomalies had a readily identifiable etiology; genetic diagnostic procedures can provide at least some of the answers for the remaining unsolved cases. Undoubtedly, the need for appropriate case management and counseling justifies the importance of uncovering the underlying genetic cause of birth defects. In this chapter, we will focus on genetic counseling in congenital anomalies, including isolated congenital anomalies and preimplantation genetic diagnosis. Genetic counseling provides information and support, assisting parents in making informed decisions. Through this process, parents learn about the risk of having a newborn with a congenital malformation and the nature of the disorder and its natural history, are advised on available testing for that particular case, and discuss options for risk management and family planning

Analysis of UNESCO ESD Priority Areas’ Implementation in Romanian HEIs

Higher education institutions (HEIs) are adopting sustainable development (SD) in their strategies for the future. The roadmap by UNESCO is the path to follow to reach success. The approach is different for every HEI, thus the objective of this paper is to analyze the current state of education for sustainable development activities provided by HEIs through the eyes of the academic community (responders category: professors, researchers, associate professors). The method to conduct the study was an interview that had 40 enclosed questions and a free part at the end where the responders could bring additional information to the study if they considered it necessary. All the interviews were transcribed and given a code (e.g., RHEI1, RHEI 29) in order to perform the analysis using descriptive statistics with the help of the program MS Office EXCEL. The results showed some areas where the activities provided by HEIs need improvement and also revealed promising aspects through partnerships. Making the values of SD known to the academic and local community will help fulfill the true potential for change and future development. Moreover, the analysis showed the need to educate educators and improve their digital skills and teaching methods/techniques in order to achieve sustainable development. Another result revealed the need for improvements in HEI curricula that will contribute to gaining those skills/abilities that emerging jobs should have