Genomics|Update|Current: Newborn Screening

Genomics|Update|Current

Newborn Screening

Assessment of parental understanding of positive newborn screening results and carrier status for cystic fibrosis with the use of a short educational video 
Temme R, et al. J Genet Couns 2014 Sep

Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy.
Audrézet MP, et al. Genet Med. 2014 Aug 14. doi: 10.1038/gim.2014.113. [Epub ahead of print]

Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India 
Gopalakrishnan V, et al. Indian Pediatr 2014 Sep;51(9):701-5

What parents want to know about the storage and use of residual newborn bloodspots. 
Botkin JR, et al.  Am J Med Genet A. 2014 Aug 4.