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Patient and Family Experiences and Opinions on Adding 22q11 Deletion Syndrome to the Newborn Screen
Author(s) -
Bales Abigail M.,
Zaleski Christina A.,
McPherson Elizabeth W.
Publication year - 2010
Publication title -
journal of genetic counseling
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.867
H-Index - 52
eISSN - 1573-3599
pISSN - 1059-7700
DOI - 10.1007/s10897-010-9306-0
Subject(s) - phone , newborn screening , medicine , genetic counseling , independence (probability theory) , pediatrics , digeorge syndrome , family medicine , psychiatry , genetics , philosophy , linguistics , statistics , mathematics , biology
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.