Objective Develop a tailored family-centered approach to genetic counseling following abnormal newborn screening (NBS) for cystic fibrosis (CF). Method A genetic counseling consortium reviewed research literature, selected theoretical frameworks, and incorporated counseling psychology micro skills. Results This innovative intervention integrated theories and empirically validated techniques. Pilot testing and parent feedback confirmed satisfaction with and feasibility of the approach designed to (a) minimize parents’ distress, (b) facilitate parents’ understanding, (c) increase parents’ capacities to use genetic information, and (d) enhance parents’ experiences with genetic counseling. Counselors engage in a highly interactive process of evaluating parents’ needs and tailoring assessments and interventions that include a therapeutic environment, the family’s emotional needs, parents’ informational needs, and a follow-up plan. Conclusion This promising new model is the first to establish a theory-driven, evidence-based standard for genetic counseling in the context of NBS for CF. Additional research will evaluate the model’s efficacy in clinical practice.

Congenital disorders of glycosylation (CDG) comprise a clinically and biochemically heterogeneous group of monogenetic-inherited, multisystemic diseases that affect the biosynthesis of N- and/or O-glycans linked to glycoconjugates. Recently, we identified the first patient with a defect in the cytosolic-orientated GDP-mannose:Man(3-4) GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase (ALG11), who presented an accumulation of shortened dolichol-linked oligosaccharides leading to CDG-Ip (ALG11-CDG). Here we describe an improved metabolic labeling method that allowed the identification of three new CDG-Ip cases that were missed so far in routine diagnostics. Although all CDG-Ip patients carry different mutations in the ALG11 gene, they share a variety of clinical syndromes like an unremarkable prenatal period followed by developmental delay, psychomotor, and mental retardation, strabismus convergens and seizures occurring in the first year of life.

Background Newborn screening (NBS) for cystic fibrosis (CF) has become standard practice in many countries. Consequently, the prevalence of infants with intermediate/equivalent sweat test results has increased. This study examined clinical practices in the United States (US) related to intermediate sweat test results subsequent to NBS. Methods Telephone surveys were conducted with staff from 77 (47% response rate) US CF centers documenting clinical practices related to intermediate/equivalent sweat chloride levels (30–59 mmol/L) following abnormal NBS. Results Thirty percent of centers followed CF Foundation guidelines for classifying intermediate/equivalent results. There was much variability in sweat testing procedures, diagnostic labels, additional diagnostics, addressing prognosis, and services offered to parents. CF center staff identified a need for resources to better address the uncertainty associated with intermediate/equivalent results. Conclusion Findings warrant evaluation of barriers to adherence with existing guidelines and establishment of internationally accepted, evidenced-based, clinical standards for infants with intermediate/equivalent CF NBS results.

INTRODUCTION: ACOG guidelines recommend red blood cell indices followed by hemoglobin electrophoresis to assess carrier status for hemoglobinopathies. However, data is limited on outcomes of these recommendations, and the role of DNA testing. METHODS: Our database was queried for abnormal hemoglobin evaluations from 42,166 consecutive samples of mixed ethnicities. Hemoglobin evaluation consisted of red blood indices and, high-performance liquid chromatography followed by, if necessary, hemoglobin electrophoresis. A subset (n= 2,863) also had DNA genotyping. Abnormal reports were evaluated individually, and test metrics and interpretations were tabulated. RESULTS: Of the 42,166 samples, 2,278 (5.4%) had abnormal hemoglobin evaluation results. Of the 2,278 abnormal results, the most common interpretation (32%) was 'possible alpha thalassemia trait', followed by 'sickle cell trait' (22%), 'possible beta thalassemia trait' (10%), 'elevated hemoglobin F' (10%), and 'hemoglobin C trait' (5%). Of the 2,863 samples that had genotyping, 146 (5.1%) had abnormal molecular results. Genotyping confirmed 100% (5/5) of samples with abnormal hemoglobin evaluation indicating 'consistent with alpha thalassemia trait' and 41% (17/41) indicating 'possible alpha thalassemia trait'. Sixteen percent (14/89) of samples with abnormal molecular results, and normal hemoglobin evaluation for alpha thalassemia, were silent alpha thalassemia carriers. CONCLUSION: Our study estimates a 5% positivity rate for hemoglobin evaluation. However, some results are non-specific and require molecular follow up. Forty-one percent of hemoglobin evaluation results interpreted as 'possible alpha thalassemia trait' were confirmed as genetic carriers. Concurrent DNA testing provides information and results more quickly to patients, and better identifies those patients truly at risk to be carriers of alpha thalassemia.

Implementing a QI strategy of providing sweat test results at the GC appointment within Center E resulted in more CF carriers receiving comprehensive GC services. Center-specific procedure differences should be assessed to increase rate of GC services following a positive CF newborn screen.