Gradual increase in sweat chloride concentration is associated with a higher risk of CRMS/CFSPID to CF reclassification.

Objectives: Universal implementation of cystic fibrosis (CF) newborn screening (NBS) has led to the diagnostic dilemma of infants with CF screen-positive, inconclusive diagnosis (CFSPID), with limited guidance regarding prognosis and standardized care. Rates of reclassification from CFSPID to CF vary and risk factors for reclassification are not well established. We investigated whether clinical characteristics are associated with the risk of reclassification from CFSPID to a CF diagnosis.

High rates of anxiety detected in mothers of children with inconclusive cystic fibrosis screening results.

Objective: The purpose was to assess postpartum depression, anxiety, and depression in mothers of children with an inconclusive diagnosis after a positive cystic fibrosis (CF) newborn screening (NBS), known as cystic fibrosis transmembrane conductance regulator (CFTR)-related metabolic syndrome (CRMS) or CF screen positive, inconclusive diagnosis (CFSPID). There is limited information on the prognosis and on the impact of this designation on maternal mental health.

Methods: Mothers of children with CRMS/CFSPID and CF identified by NBS were recruited from two centers in California.

When CFSPID becomes CF.

There has been a growing number of infants identified as CRMS/CFSPID in countries applying genetic testing as part of cystic fibrosis (CF) newborn screening. Currently there are neither standardized protocols for follow up beyond infancy, nor established predictors to stratify this population as high or low risk of reclassification to CF or CFTR-related disorder. We report a series of 10 children who reclassified, including eight carrying CFTR variants of varying clinical consequence and seven with initial sweat chloride measurements <30 mmol/L.

Etiologies of apnea of infancy.

Background: To date there are limited data in the literature to guide the initial evaluation for etiologies of apnea in full-term infants born at greater than or equal to 37 weeks conceptional age (apnea of infancy [AOI]). Pediatricians and pediatric pulmonologists are left to pursue a broad, rather than targeted and a stepwise approach to begin diagnostic evaluation.

Methods: We performed a retrospective chart review of 101 symptomatic full-term infants (age under 12 months) diagnosed with apnea with an inpatient multichannel pneumogram (six channels) or a fully attended overnight pediatric polysomnogram in our outpatient sleep center accredited by American Academy of Sleep Medicine (AASM), scored using the standards set forth by the AASM.

Factors associated with birth outcomes from cryopreserved blastocysts: experience from 4,597 autologous transfers of 7,597 cryopreserved blastocysts.

Objective: To evaluate factors associated with cryopreserved blastocyst transfer birth outcomes, including age, expansion time, cryopreservation protocol, cryodamage, and number of embryos transferred.

Design: Retrospective cohort study.

Setting: Private infertility practice.