- •Mothers of CRMS/CFSPID children had high rates of anxiety and depression.
- •Diagnosis had a negative impact while genetic counseling supported emotional health.
- •Mental health screening is recommended to mothers of CFSPID children.
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.
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.
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.
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.
Abbreviations:CF (cystic fibrosis), CFSPID (cystic fibrosis screen positive, inconclusive diagnosis), CFTR (cystic fibrosis transmembrane conductance regulator), CHLA (Children's Hospital Los Angeles), CRMS (cystic fibrosis transmembrane conductance regulator-related metabolic syndrome), EPDS (Edinburgh Postpartum Depression Scale), GAD – 7 (Generalized Anxiety Disorder – 7), HIPAA (Health Insurance Portability and Accountability Act), HMO (Health Maintenance Organization), IRT (immunoreactive trypsinogen), NBS (newborn screening), PHQ – 8 (Patient Health Questionnaire – 8)
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Published online: December 16, 2022
Accepted: December 5, 2022
Received in revised form: November 28, 2022
Received: June 13, 2022
Publication stageIn Press Corrected Proof
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