... We compared the demographics (gender, race, ethnicity) of infants with a guideline diagnosis of CF with those with CRMS. In addition, for all encounters during the first year of life, we examined ...
... Newbornscreening for cysticfibrosis offers the opportunity for early intervention and improved ...the CysticFibrosis Foundation to facilitate implementation of widespread high ...
... the infants diagnosed who were pancreatic sufficient (25% of patients who reported fecal ...are detected by NBS, and the benefit of early diagnosis in this group has yet to be ...improve ...
... negative outcomes while maximizing positive ...mature infants, absolutely depends on the timing of blood sampling 9 and on successful procurement of ...
... A core group (AM, AS, JB, KWS and SM) produced preliminary statements through a series of face-to-face meetings, teleconferences and email discussions. The level of evidence to support each statement was recorded. Once ...
... diagnostic outcomes are less desirable than seen with other algorithms because more CRMS than CF cases were detected, creating an unmeasured “burden” for families and CF ...clinical diagnosis and ...
... a diagnosis of CF or CRMS/ CFSPID ...NBS-positive infants at each centre were defined and entered into the study as CRMS/CFSPID if they had at time of initial diagnosis an indeterminate ...
... be detected, the number of outcomes under investigation, the between subject variability for any given outcome, and the confidence (power) that is desired with which to detect such ...CF infants and ...
... been detected by the IRT screen from the IRT/DNA data ...false-positive infants. We have shown that African-American infants and also neonates with low Apgar scores often have an elevated IRT even ...
... was detected among mothers of FP ...expanded newbornscreening, efforts to mitigate unnecessary use should be invoked, and downstream system costs should be considered in NBS costing ...
... of infants with FP results in the early newborn period or 1 year ...was detected on these psychometric tools, a majority of mothers agreed that the FP experience had been the “scariest time in their ...
... the diagnosis of CF, 2) the perceived value of the 5-day assessment and education program, and 3) the perceived advantages and disadvantages of the resi- dential component (Care-By-Parent unit) of the ...child’s ...
... born screening biases the US data somewhat, in view of the limited num- ber of US states that performed screening of infants for CF before ...of newbornscreening contributing to im- ...
... of screening and diagnostic costs is 1 aspect of the global question on the cost effectiveness of CF NBS, whereas the care costs are still being investigated with utilization data that should allow us to reach ...
... CF newbornscreening conclude that policymakers must consider the need for genetic counsel- ling services and ensure adequate resources to support information giving prior to introducing newborn ...
... equivocal diagnosis of CF, and to our knowledge, this study represents the first prospective longitudinal evaluation of these ...infants. Infants with CFSPID are genotypically and phenotypically ...
... Regional Screening La- boratory between 1st November 2007 and 31st October 2014 who had a confirmed diagnosis of CF (identifica- tion of two CF-causing mutations and/or a sweat chlor- ide ≥60 ...as ...
... of newbornscreening in all 50 states as of 2010 [37], and the recommendation from the American College of Obstetricians and Gynecologists for carrier screening, CF diagnosis is now occurring ...
... early diagnosis achieved through CF neonatal screening with comprehensive assessment of potential benefits and risks of the screening ...340 infants for CF markers in conjunction with the ...
... CF screening results was ...prospective newbornscreening discussions by prenatal and pediatric providers and lack of knowledge and sensitivity by those who initially notified them of the abnormal ...