Patient and Family Experiences and Opinions on Adding 22q11 Deletion Syndrome to the Newborn Screen |
| |
Authors: | Abigail M Bales Christina A Zaleski Elizabeth W McPherson |
| |
Institution: | (1) Marshfield Clinic, Marshfield, WI, USA; |
| |
Abstract: | 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. |
| |
Keywords: | |
本文献已被 SpringerLink 等数据库收录! |
|