Vascular Ehlers–Danlos syndrome (vEDS) is an autosomal dominant genetic disorder characterized by soft connective tissue vulnerability due to dysfunction of Type III collagen and caused by the pathogenic variants in COL3A1 gene. In the era of next‐generation sequencing, multiple genes including COL3A1 can be simultaneously analyzed, and among patients suffering from aortopathy even without any other clinical features suggestive of vEDS, pathogenic COL3A1 variants have been increasingly identified. Here, we briefly summarize the characteristics of 12 Japanese patients from 11 families with arteriopathy and pathogenic or likely pathogenic COL3A1 variants in our hospital. Five patients did not have any extra‐arterial clinical features, however, the multigene panel testing for hereditary thoracic aortic aneurysm and dissection unexpectedly revealed that two had glycine substitutions in the triple‐helical region and three had haploinsufficient type variants in the COL3A1 gene, whose pathogenicities were all classified as pathogenic or likely pathogenic. Further genetic screening and identification of pathogenic variants in patients with nonsyndromic arteriopathy and aortopathy will enable us to develop risk‐stratification and management based on the genetic diagnosis.

柴田 有花 1) 松島 理明 1) 2) 加藤ももこ 1) 張 香理 3) 中村 勝哉 4) 5) 織田 克利 3) 吉田 邦広 6) 関島 良樹 5) 戸田 達史 3) 7) 矢部 一郎 1) 2) *

In Japan, prenatal testing does not include a publicly insured routine health check‐up for pregnant women. Hence, taking advantage of such prenatal testing procedures is still not an option for a majority of Japanese women. However, social support systems for children and adults with disabilities have been developed with the assumption that people with disabilities will continue receiving support from their family members, especially their mothers. In this study, we described pregnant women's experiences regarding noninvasive prenatal testing (NIPT) within the context of their physical experiences during the NIPT process, Japanese society, and their medical circumstances. Women with no family history of genetic diseases or fetal disabilities and who had also received negative results after the NIPT explanation were recruited. Altogether, 15 women participated in the biographical narrative interview. The data were subjected to reflexive thematic analysis and signified advanced age for pregnancy as a trigger for both the women's consideration regarding receiving NIPT and interventions from their families and social group members. Participants considered themselves as the main caretaker for the older adults and individuals with disabilities and thus were afraid of the multiple responsibilities inherent in this reality. They were also concerned about the impact on any other siblings if the baby had disabilities. In addition, participants encounter physical and mental changes during the timeframe of the NIPT processes. Hence, as their fetuses mature, the psychological bonds the women develop with them are constantly evolving, and participants with histories of miscarriages or possible miscarriages expressed concerned not only about the results of NIPT but also about the specific possibility of losing their child in any way. In conclusion, the continuous support of these women throughout the NIPT process and social efforts for the improvement of the welfare system for people with disabilities are required to utilize NIPT effectively.