Impact of perinatal exposure counseling on patient reported emotional outcomes and decisional empowerment.

BACKGROUND: Exposures during pregnancy are common and most pregnant patients utilize at least one medication during pregnancy. The lack of reliable information on medication safety during pregnancy available to providers and patients is a stressor and obstacle to decision-making about medication use in pregnancy. Previous studies showed that exposures in pregnancy are associated with guilt, worry, and decisional conflict. Although prior research has evaluated changes in patient knowledge after teratogen counseling, studies have not examined emotional outcomes or patients' decisional empowerment. This quasi-experimental study measured changes in patients' feelings of guilt, anxiety, and decisional empowerment after receiving exposure counseling from trained teratogen information specialists. METHODS: We administered pre- and post-counseling surveys to patients referred to a perinatal exposure clinic in Tampa, Florida. Validated scales were used to measure anxiety and guilt, and the 'SURE' measure was used to assess decisional empowerment. Paired samples t-tests evaluated changes in anxiety and guilt and a McNemar test assessed for changes in empowered decision making. RESULTS: Among the 34 participants who completed both surveys, anxiety, and guilt scores decreased significantly (p < .001). While only 21% felt informed and empowered to make a decision related to their exposure(s) before counseling, this increased to 85% (p < .001) on the post-survey. CONCLUSION: Comprehensive counseling with a trained teratogen information specialist improves patient emotional outcomes as well as feelings of empowerment to make an informed decision regarding medication use in pregnancy. This study highlights that patient-centered teratogen counseling goes beyond simple changes in patient knowledge.

A novel clinic structure for exposure counseling during pregnancy.

BACKGROUND: Congenital malformations and adverse fetal outcomes secondary to teratogenic exposures are major public health concerns. We review all inquiries made to the Florida MotherToBaby service center as well as the novel Exposure Clinic, which offers direct patient counseling. METHODS: We completed a retrospective review of all inquiries made to the MotherToBaby Florida service and the Exposure Clinic consults between its inception January 2019 through December 2021. All de-identified data was collected at the time of the inquiry and stored in the OTIS database. Aggregate data was then extracted and descriptive statistics were performed. A p value of less than .05 indicated statistical significance. RESULTS: In 2019, there were 163 total inquiries, 265 in 2020, and 1,279 in 2021. These 1,707 inquiries covered 2,809 unique exposures. In the Exposure Clinic, 49 patients were seen in 2019, 140 in 2020, and 263 in 2021. The clinic's geographical reach increased over time with patients from 22 different counties being seen in 2021. Of all individual exposures, 45% were evaluated in 452 unique encounters in the Exposure Clinic and 55% were evaluated in 1255 unique encounters via traditional modes of contact. The average number of exposures discussed at each clinic appointment 2.8 versus 1.2 in inquiries via traditional methods. The majority of all exposures were regarding prescription medications, specifically psychiatric medications, followed by immunizations. The exposure with the single most inquiries was the COVID-19 vaccine. CONCLUSIONS: This novel clinic structure allows for complex counseling and clinical recommendations regarding exposures during pregnancy.

Report of a novel variant in the FAM111A gene in a fetus with multiple anomalies including gracile bones, hypoplastic spleen, and hypomineralized skull.

Kenny-Caffey syndrome type 2 (KCS2) and osteocraniostenosis (OCS) are allelic disorders caused by heterozygous pathogenic variants in the FAM111A gene. Both conditions are characterized by gracile bones, characteristic facial features, hypomineralized skull with delayed closure of fontanelles and hypoparathyroidism. OCS and KCS2 are often referred to as FAM111A-related syndromes as a group; although OCS presents with a more severe, perinatal lethal phenotype. We report a novel FAM111A mutation in a fetus with poorly ossified skull, proportionate long extremities with thin diaphysis, and hypoplastic spleen consistent with FAM111A-related syndromes. Trio whole exome sequencing identified a p.Y562S de novo missense variant in the FAM111A gene. The variant shows significant similarity to other reported pathogenic mutations fitting proposed pathophysiologic mechanism which provide sufficient evidence for classification as likely pathogenic. Our report contributed a novel variant to the handful of OCS and KCS2 cases reported with pathogenic variants.

Evaluation of Clinical Practices Related to Variants of Uncertain Significance Results in Inherited Cardiac Arrhythmia and Inherited Cardiomyopathy Genes.

BACKGROUND: Increasing use of genetic tests have identified many variants of uncertain significance (VUS) in genes associated with inherited arrhythmias and cardiomyopathies. Evaluation of clinical practices, including medical management recommendations for VUS patients and their families, is important to prevent over- or under-treatment that may result in morbidity or mortality. The purpose of this study is to describe practices related to VUS results including information and medical management recommendations providers give patients and their families. METHODS: An anonymous online survey was distributed to genetic counselors (GCs) and cardiologists who have seen at least one patient for inherited arrhythmias or cardiomyopathies. The survey explored providers' confidence in counseling, explanation of VUSs, topics covered before and after genetic testing, and clinical recommendations using a hypothetical scenario maximizing uncertainty with an unclear clinical and molecular diagnosis. Descriptive statistics were calculated, and median confidence and likelihood of making various medical recommendations were compared across provider type. RESULTS: Providers (N=102) who completed the survey included 29 cardiovascular GCs, 50 GCs from other specialties, and 23 cardiologists. GCs feel more confident than cardiologists counseling about VUS results (P<0.001); while both cardiovascular GCs and cardiologists feel more confident than other GCs in providing input regarding medical management recommendations (P=0.001 and P=0.01, respectively). Cardiologists were more likely than cardiac GCs to recommend clinical testing for family members even though testing in the scenario is expected to be uninformative. CONCLUSIONS: These findings illustrate how the expertise of different providers may impact decision processes, suggesting the need for interdisciplinary clinics to optimize care for challenging cases.