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

@article{Bales2010PatientAF,
  title={Patient and Family Experiences and Opinions on Adding 22q11 Deletion Syndrome to the Newborn Screen},
  author={Abigail M. Bales and Christina A Zaleski and Elizabeth W. McPherson},
  journal={Journal of Genetic Counseling},
  year={2010},
  volume={19},
  pages={526-534}
}
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… CONTINUE READING
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Health professionals guide to newborn screening

Wisconsin State Laboratory of Hygiene Web site.
Wisconsin Newborn Screening Program. Accessible at http://www.slh.wisc.edu/newborn/nbsguide.pdf. Retrieved July 9, 2009. • 2008

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