{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T12:47:34Z","timestamp":1790858854682,"version":"4.1.0"},"reference-count":57,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,1,13]],"date-time":"2015-01-13T00:00:00Z","timestamp":1421107200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Journal of Genetic Counseling"],"published-print":{"date-parts":[[2015,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans. Survival to reproductive age and beyond is now the norm. Several manifestations of this syndrome, such as congenital cardiac disease and neuropsychiatric disorders, may increase risk for adverse pregnancy outcomes in the general population. However, there are limited data on reproductive health in 22q11.2DS. We performed a retrospective chart review for 158 adults with 22q11.2DS (75 male, 83 female; mean age 34.3 years) and extracted key variables relevant to pregnancy and reproductive health. We present four illustrative cases as brief vignettes. There were 25 adults (21\u2009&gt;\u2009age 35 years; 21 female) with a history of one or more pregnancies. Outcomes for women with 22q11.2DS, compared with expectations for the general population, showed a significantly elevated prevalence of small for gestational age liveborn offspring (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001), associated mainly with infants with 22q11.2DS. Stillbirths also showed elevated prevalence (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.05). Not all observed adverse events appeared to be attributable to transmission of the 22q11.2 deletion. Recurring issues relevant to reproductive health in 22q11.2DS included the potential impact of maternal morbidities, inadequate social support, unsafe sexual practices, and delayed diagnosis of 22q11.2DS and\/or lack of genetic counseling. These preliminary results emphasize the importance of early diagnosis and long term follow\u2010up that could help facilitate genetic counseling for men and women with 22q11.2DS. We propose initial recommendations for pre\u2010conception management, educational strategies, prenatal planning, and preparation for possible high\u2010risk pregnancy and\/or delivery.<\/jats:p>","DOI":"10.1007\/s10897-014-9811-7","type":"journal-article","created":{"date-parts":[[2015,1,12]],"date-time":"2015-01-12T03:00:45Z","timestamp":1421031645000},"page":"810-821","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Reproductive Health Issues for Adults with a Common Genomic Disorder: 22q11.2 Deletion Syndrome"],"prefix":"10.1002","volume":"24","author":[{"given":"Chrystal","family":"Chan","sequence":"first","affiliation":[{"name":"Clinical Genetics Research Program Centre for Addiction and Mental Health Toronto ON Canada"},{"name":"Undergraduate Medical Education, Department of Medicine University of Toronto Toronto ON 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