Patient and Family Experiences and Opinions on Adding 22q11 Deletion Syndrome to the Newborn Screen

• Published in: Journal of genetic counseling 2010-10, Vol.19 (5), p.526-534
• Main Authors: Bales, Abigail M., Zaleski, Christina A., McPherson, Elizabeth W.
• Format: Article
• Language: English
• Subjects: Adolescent; Adulthood; Biomedicine; Birth defects; Bonding; Child; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 22; Clinical Psychology; Deletion 22q11; Diagnosis; DiGeorge syndrome; Ethics; Families & family life; Family - psychology; Gynecology; Human Genetics; Humans; Infant; Infant, Newborn; Medical screening; Minority groups; Neonatal Screening - psychology; Newborn babies; Newborn screening; Original Research; Patient education; Public Health; Screening; Velocardiofacial syndrome; Young Adult
• ISSN: 1059-7700; 1573-3599
• DOI: 10.1007/s10897-010-9306-0

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.