{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,29]],"date-time":"2025-12-29T18:48:41Z","timestamp":1767034121753},"reference-count":10,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2010,5,22]],"date-time":"2010-05-22T00:00:00Z","timestamp":1274486400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Genetic Counseling"],"published-print":{"date-parts":[[2010,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>22q11 deletion syndrome (22qDS) has recently been proposed for addition to the newborn screening panel in Wisconsin and it seems likely that it may soon be considered in other states as well. Input from patients with 22qDS and their family was gathered from 21 phone interviews. Cardiac, palate, hypocalcemia, and multiple anomalies were common reasons for involved patients to be diagnosed, though age at diagnosis ranged from birth to adulthood. Many commented on their struggles with 22qDS, including worries about the future and the patient's independence. In general, respondents favored newborn screening for 22qDS because it would help prevent some medical problems, increase access to services, explain existing problems, and identify mild cases. However, a minority expressed reservations, including concerns that it would disrupt bonding, could be too costly, and would not be useful for mild cases.<\/jats:p>","DOI":"10.1007\/s10897-010-9306-0","type":"journal-article","created":{"date-parts":[[2010,5,21]],"date-time":"2010-05-21T20:25:49Z","timestamp":1274473549000},"page":"526-534","source":"Crossref","is-referenced-by-count":13,"title":["Patient and Family Experiences and Opinions on Adding 22q11 Deletion Syndrome to the Newborn Screen"],"prefix":"10.1002","volume":"19","author":[{"given":"Abigail M.","family":"Bales","sequence":"first","affiliation":[{"name":"Marshfield Clinic Marshfield WI USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christina A.","family":"Zaleski","sequence":"additional","affiliation":[{"name":"Marshfield Clinic Marshfield WI USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth W.","family":"McPherson","sequence":"additional","affiliation":[{"name":"Marshfield Clinic Marshfield WI USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,5,22]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181cdeb9a"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00783.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32466"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-004-1577-8"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/fn.86.2.F91"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2004-0275"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.290.19.2564"},{"key":"e_1_2_6_9_1","first-page":"1","volume-title":"Principles and practice of screening for disease","author":"Wilson J. M.","year":"1968"},{"key":"e_1_2_6_10_1","volume-title":"Health professionals guide to newborn screening.","author":"Wisconsin State Laboratory of Hygiene Web site.","year":"2008"},{"key":"e_1_2_6_11_1","unstructured":"WSLH Training and Outreach Resources Web site.(2009).DiGeorge\/ Velo\u2010cardio\u2010facial\/Shprintzen\/Conotruncal anomaly syndrome Deletion 22q11.2 TUPLE1 FISH for Genetic Diagnosis. Accessible athttp:\/\/www.slh.wisc.edu\/outreach\/search. Retrieved July 24 2009."}],"container-title":["Journal of Genetic Counseling"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10897-010-9306-0","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10897-010-9306-0","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10897-010-9306-0","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T20:48:23Z","timestamp":1694810903000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10897-010-9306-0"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,5,22]]},"references-count":10,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2010,10]]}},"alternative-id":["10.1007\/s10897-010-9306-0"],"URL":"https:\/\/doi.org\/10.1007\/s10897-010-9306-0","archive":["Portico"],"relation":{},"ISSN":["1059-7700","1573-3599"],"issn-type":[{"value":"1059-7700","type":"print"},{"value":"1573-3599","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,5,22]]}}}