Patient and Family Experiences and Opinions on Adding 22q11 Deletion Syndrome to the Newborn Screen
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ORIGINAL RESEARCH
Patient and Family Experiences and Opinions on Adding 22q11 Deletion Syndrome to the Newborn Screen Abigail M. Bales & Christina A. Zaleski & Elizabeth W. McPherson
Received: 22 September 2009 / Accepted: 12 May 2010 / Published online: 22 May 2010 # National Society of Genetic Counselors, Inc. 2010
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 Deletion 22q11 . DiGeorge syndrome . Velocardiofacial syndrome . Newborn screening . Public health
Introduction Since its inception in the 1960s with testing for phenylketonuria, newborn screening (NBS) in the United States has expanded greatly. In Wisconsin, the newborn screening panel currently includes 48 disorders (Wisconsin State Laboratory of Hygiene 2008), and it seems likely that new A. M. Bales : C. A. Zaleski (*) : E. W. McPherson Marshfield Clinic, Marshfield, WI, USA e-mail: [email protected]
disorders will continue to be proposed for addition. The most recent such proposal was for the addition of 22q11.2 deletion syndrome (22q11DS, also called DiGeorge Syndrome or Velocardiofacial Syndrome) to Wisconsin’s Newborn Screen. 22q11 deletion syndrome (22q11DS) is a highly variable microdeletion syndrome with an estimated incidence of 1:5000. More than 180 clinical findings of varying frequency are associated with the microdeletion, but it is not possible to predict which patients will have which findings. Cardiac defects, including tetralogy of fallot, interrupted aortic arch, ventricular septal defects, and others, are present in about 75–80% of patients. Severe T-cell deficiency (similar to Severe Combined Immune Deficiency) is seen in only 0.5% of patients, though less severe immune deficiencies are seen in about 80%. Hypocalcemia occurs in about 50–60% of patients and seizures occur in about 20% due to hypocalcemia or other causes. Palate abnormalities, sometimes leading to feeding difficulties, occur in at least 37% of patients. Developmental delay and learning problems occur in greater than 80%. Mental illness is also an issue, with a lifetime prevalence of schizophrenia of 25–30% in 22q11DS patients. There is no cure, though symptomatic management of feat
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