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. Maternal mental health was assessed using measures of depression, anxiety, and a scripted interview. Descriptive statistics and multivariate logistic regression were applied for data reporting. RESULTS: A total of 109 mothers were recruited: CF: 51, CRMS/CFSPID: 58. Mothers from both groups showed higher rates of depression and anxiety symptoms than women in the general population. CRMS/CFSPID and CF mothers had no significant difference on their self-reported symptoms of anxiety and depression after adjusting for potential confounders. Mothers equally reported that their child's diagnosis had a negative impact, and that genetic counseling had a positive impact on their emotional health. CONCLUSIONS: CF and CRMS/CFSPID diagnoses impact maternal mental health similarly. Uncertain prognosis of CRMS/CFSPID likely contributed to the negative mental health impact. Providers should consider conducting mental health screening for every mother of a child with CRMS/CFSPID, in addition to the recommended mental health screening for mothers of children with CF. Genetic counseling has potential to mitigate emotional stress on these families.

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. METHODS: Children with a positive CF NBS were recruited from two sites in California. Retrospective, longitudinal, and cross-sectional data were collected. A subset of subjects had nasal epithelial cells collected for CF transmembrane conductance regulator (CFTR) functional assessment. Multivariate logistic regression was used to assess the risk of reclassification. RESULTS: A total of 112 children completed the study (CF = 53, CFSPID = 59). Phenotypic characteristics between groups showed differences in pancreatic insufficiency prevalence, immunoreactive trypsinogen (IRT) levels, and Pseudomonas aeruginosa (PSA) colonization. Spirometry measures were not different between groups. Nasal epithelial cells from 10 subjects showed 7%-30% of wild-type (WT)-CFTR (wtCFTR) function in those who reclassified and 27%-67% of wtCFTR function in those who retained the CFSPID designation. Modeling revealed that increasing sweat chloride concentration (sw[Cl- ]) and PSA colonization were independent risk factors for reclassification to CF. CONCLUSION: Increasing sw[Cl- ] and a history of PSA colonization are associated with the risk of reclassification from CFSPID to CF in a population with high IRT and two CFTR variants. A close follow-up to monitor phenotypic changes remains critical in this population. The role of CFTR functional assays in this population requires further exploration.

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. PATIENT(S): Cryopreserved blastocyst transfer patients from January 2003 to April 2012. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Birth per transfer and children per embryo. RESULT(S): Overall live birth per transfer was 32%, with 17% twin births and 0.3% triplets. Live birth per transfer was significantly higher for vitrification compared with slow-freeze (day 5 cryopreservation: 47% vs. 35%; day 6 cryopreservation: 46% vs. 24%), as was live born children per transferred embryo (39% vs. 29% for day 5; 36% vs. 18% for day 6). Birth rates declined only slightly with increasing age at cryopreservation through 37 years, followed by an increasingly rapid decline in success with increasing age thereafter. Live birth rates declined rapidly (49%-18% for vitrification and 37%-10% for slow-freeze) as the percentage of intact cells after cryopreservation decreased from 95%-100% to 70%-79%, with almost no births when the percentage of intact cells was <70%. Increasing numbers of embryos per transfer were associated with significant increase in live birth per transfer but significant decrease in children per transferred embryo. Birth rates were much lower for blastocysts with delayed expansion on day 7 (10% per transfer). CONCLUSION(S): Birth outcomes from cryopreserved blastocyst transfer are influenced by age, timing of expansion, cryopreservation protocol, visible cryodamage, and the number of embryos transferred. Vitrification substantially improves outcomes versus slow freezing.