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Objective: Childbirth evacuation, the transfer of patients from rural and remote communities to urban centers for pregnancy care or childbirth, can be associated with numerous adverse health outcomes and contributes to widening health disparities between Inuit and non-Indigenous populations in Quebec. We examined the indications and outcomes of childbirth evacuations among Inuit from Nunavik, northern Quebec transferred to a southern tertiary care center., Methods: A five-year retrospective chart review included 677 pregnancies of 597 Inuit with obstetric indications transferred to a tertiary care center between 2015 and 2019., Results: The most common reasons for transfer were diabetes (70/677, 10.3%), hypertension (69/677, 10.2%), abnormal prenatal screen/soft markers (57/677, 8.4%), and threatened preterm labour (55/677, 8.1%). Of 534 (78.9%) Inuit who gave birth at the tertiary center, 84.1% (449/534) were vaginal births. Overall, 27.0% (144/534) had obstetric complications, with postpartum hemorrhage (58/534, 10.9%) and retained placenta (34, 6.37%) being the most common. Of the 549 neonates, 9 were stillbirths (1.6%), and 69 neonates (12.6%) required admission to neonatal intensive care unit. Some 3.4% (18/534) had complications within the postpartum period, the most common being retained products of conception (4/18, 22.2%) and postpartum preeclampsia (4/18, 22.2%)., Conclusion: A relatively young and multiparous population, Inuit from Nunavik have unique health profiles and care needs. Further investment in health care capacity in Nunavik, alongside locally adapted, prevention-focused perinatal health programming, might improve perinatal health profiles and reduce the rates of childbirth evacuation., (Copyright © 2024. Published by Elsevier Inc.)

Objective: To review the available prenatal aneuploidy screening options and to provide updated clinical guidelines for reproductive care providers., Target Population: All pregnant persons receiving counselling and providing informed consent for prenatal screening., Benefits, Harms, and Costs: Implementation of the recommendations in this guideline should increase clinician competency to offer counselling for prenatal screening options and provide appropriate interventions. Given the variety of available options for prenatal screening with different performance, cost, and availability across Canada, appropriate counselling is of paramount importance to offer the best individual choice to Canadian pregnant persons. Prenatal screening may cause anxiety, and the decisions about prenatal diagnostic procedures are complex given the potential risk of fetal loss., Evidence: Published literature was retrieved through searches of Medline, PubMed, and the Cochrane Library in and prior to July 2023, using an appropriate controlled vocabulary (prenatal diagnosis, amniocentesis, chorionic villi sampling, non-invasive prenatal screening) and key words (prenatal screening, prenatal genetic counselling). Results were restricted to systematic reviews, randomized control trials/controlled clinical trials, and observational studies written in English and published from January 1995 to July 2023., Validation Methods: The authors rated the quality of evidence and strength of recommendations using the Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach. See Appendix A (Tables A1 for definitions and A2 for interpretations)., Intended Audience: Health care providers involved in prenatal screening, including general practitioners, obstetricians, midwives, maternal-fetal medicine specialists, geneticists, and radiologists., Social Media Abstract: Non-invasive prenatal screening is the most accurate method for detecting major aneuploidies. It is not universally available in the public health system and has some limitations., Summary Statements: RECOMMENDATIONS., (Copyright © 2024. Published by Elsevier Inc.)

Objectif: Examiner les possibilités de dépistage prénatal des aneuploïdies et fournir des lignes directrices cliniques actualisées aux prestataires de soins de la reproduction., Population Cible: Personnes enceintes qui reçoivent des conseils sur le dépistage prénatal et qui donnent leur consentement éclairé. BéNéFICES, RISQUES ET COûTS: La mise en application des recommandations de la présente directive devrait améliorer la compétence des cliniciens pour conseiller les patientes sur les options de dépistage prénatal et leur donner accès aux interventions indiquées. Compte tenu de la diversité des options disponibles pour le dépistage prénatal, dont la fiabilité, le coût et la disponibilité varient d'un bout à l'autre du Canada, il est primordial d'offrir des conseils appropriés pour permettre aux personnes enceintes canadiennes de faire un choix éclairé. Le dépistage prénatal peut être source d'anxiété, et les décisions relatives aux examens de diagnostic prénatal sont complexes compte tenu du risque de perte fœtale. DONNéES PROBANTES: La littérature publiée avant la fin de juillet 2023 a été colligée par des recherches dans les bases de données Medline, PubMed et Cochrane Library au moyen de termes (prenatal diagnosis, amniocentesis, chorionic villi sampling, non-invasive prenatal screening) et mots clés (prenatal screening, prenatal genetic counselling) pertinents et validés. Les seuls résultats retenus proviennent de revues systématiques, d'essais cliniques randomisés ou comparatifs et d'études observationnelles publiés en anglais entre janvier 1995 et juillet 2023. MéTHODES DE VALIDATION: Les auteurs ont évalué la qualité des données probantes et la force des recommandations en utilisant le cadre méthodologique GRADE (Grading of Recommendations, Assessment, Development, and Evaluation). Voir l'annexe A (tableau A1 pour les définitions et tableau A2 pour l'interprétation des recommandations fortes et faibles). PROFESSIONNELS CONCERNéS: Professionnels de la santé impliqués dans le dépistage prénatal, y compris les omnipraticiens, les obstétriciens, les sages-femmes, les spécialistes en médecine fœto-maternelle, les généticiens et les radiologues. RéSUMé DES MéDIAS SOCIAUX: Le test génomique prénatal non invasif est la méthode la plus fiable pour détecter les aneuploïdies majeures. Il n'est pas universellement disponible dans le système de santé publique et comporte certaines limites., (Copyright © 2024. Published by Elsevier Inc.)

Background: Computed tomography pulmonary angiogram and lung scintigraphy with ventilation/perfusion scan are needed to diagnose pulmonary embolism (PE) in pregnancy. Their associated ionizing radiation doses are considered safe in pregnancy. A standardized patient information tool may improve patient counseling and reduce testing hesitancy., Objectives: In this context, we sought to address 1) what patients want to know before undergoing these tests and 2) how they want the information to be provided to them., Methods: We used a qualitative descriptive methodology. We recruited pregnant participants at the McGill University Health Center in Montreal, Canada. Structured interviews explored information needs about PE and diagnostic imaging for PE. The interview transcripts' themes were analyzed with a hybrid deductive and inductive approach., Results: Of 21 individuals approached, 20 consented to participate. Four had been previously investigated for PE. Participants requested information about the risks associated with PE and radiation and their effects on maternal and fetal health. They preferred for radiation doses to be presented in comparison with known radiation thresholds for fetal harm. They suggested that a written tool should be developed using an accessible language. Participants also indicated that the tool would be integrated into their decision-making process, emphasizing a lower risk tolerance for their fetus than for themselves., Conclusion: This single-center group of pregnant patients wished to be informed about the risks of PE and radiation associated with imaging. A written tool could help put information into context and facilitate decision making. These new insights may be used to inform counseling., (© 2024 The Authors.)

Objectives: To (1) define quality indicators, (2) describe care gaps, and (3) identify process issues in severe hypertension (sustained systolic blood pressure [BP] ≥160 mm Hg or diastolic BP ≥110 mm Hg) management at our tertiary care centre., Methods: Pregnant and postpartum persons diagnosed with a hypertensive disorder of pregnancy from 2018 to 2019 were identified. A retrospective cohort of patients with severe hypertension was constructed, and data were collected through chart review. Severe hypertension management was assessed according to defined quality indicators. Clinical characteristics were compared between participants with and without time-to-target BP within 60 minutes. Process issues were examined for each severe hypertension occurrence., Results: Of 608 participants with a hypertensive disorder of pregnancy, 90 (15%) experienced severe hypertension. Median time-to-target BP was 76 minutes (interquartile range 47-123 minutes), and target BP (<155/105 mm Hg) was achieved within 60 minutes in 31/90 (34%) participants. Appropriate antihypertensives for severe hypertension were used in 55/90 (61%), and time-to-treatment initiation was within 30 minutes in 42/54 (78%). Chronic hypertension and oral labetalol use were associated with delays in achieving target BP. Process issues related to severe hypertension management included inappropriate treatment (n = 35/90; 39%), failure to recognize severe hypertension as an emergency (n = 21/90; 23%), and delayed treatment initiation (n = 12/54; 22%)., Conclusion: We defined quality indicators for severe hypertension management. Time-to-target BP within 60 minutes was achieved in a minority of patients, and chronic hypertension was associated with delayed severe hypertension resolution. Process issues in severe hypertension management were described., (Copyright © 2023 The Society of Obstetricians and Gynaecologists of Canada/La Société des obstétriciens et gynécologues du Canada. Published by Elsevier Inc. All rights reserved.)

The majority of heterotaxy cases do not obtain a molecular diagnosis, although pathogenic variants in more than 50 genes are known to cause heterotaxy. A heterozygous missense variant in DAND5 , a nodal inhibitor, which functions in early development for establishment of right-left patterning, has been implicated in heterotaxy. Recently, the first case was reported of a DAND5 biallelic loss-of-function (LoF) variant in an individual with heterotaxy. Here, we describe a second unrelated individual with heterotaxy syndrome and a homozygous frameshift variant in DAND5 (NM&#95;152654.2:c.197del [p.Leu66ArgfsTer22]). Using an in vitro assay, we demonstrate that the DAND5 c.197del variant is unable to inhibit nodal signaling when compared with the wild-type expression construct. This work strengthens the genetic and functional evidence for biallelic LoF variants in DAND5 causing an autosomal recessive heterotaxy syndrome., (© 2022 Ganapathi et al.; Published by Cold Spring Harbor Laboratory Press.)

Background and Aims: Very early onset inflammatory bowel disease [VEOIBD] is characterized by intestinal inflammation affecting infants and children less than 6 years of age. To date, over 60 monogenic aetiologies of VEOIBD have been identified, many characterized by highly penetrant recessive or dominant variants in underlying immune and/or epithelial pathways. We sought to identify the genetic cause of VEOIBD in a subset of patients with a unique clinical presentation., Methods: Whole exome sequencing was performed on five families with ten patients who presented with a similar constellation of symptoms including medically refractory infantile-onset IBD, bilateral sensorineural hearing loss and, in the majority, recurrent infections. Genetic aetiologies of VEOIBD were assessed and Sanger sequencing was performed to confirm novel genetic findings. Western analysis on peripheral blood mononuclear cells and functional studies with epithelial cell lines were employed., Results: In each of the ten patients, we identified damaging heterozygous or biallelic variants in the Syntaxin-Binding Protein 3 gene [STXBP3], a protein known to regulate intracellular vesicular trafficking in the syntaxin-binding protein family of molecules, but not associated to date with either VEOIBD or sensorineural hearing loss. These mutations interfere with either intron splicing or protein stability and lead to reduced STXBP3 protein expression. Knock-down of STXBP3 in CaCo2 cells resulted in defects in cell polarity., Conclusion: Overall, we describe a novel genetic syndrome and identify a critical role for STXBP3 in VEOIBD, sensorineural hearing loss and immune dysregulation., (© The Author(s) 2021. Published by Oxford University Press on behalf of European Crohn’s and Colitis Organisation. All rights reserved. For permissions, please email: journals.permissions@oup.com.)

Background: Identification of chromosomal aneuploidies and copy number variants that are associated with fetal structural anomalies has substantial value. Although whole-exome sequencing (WES) has been applied to case series of a few selected prenatal cases, its value in routine clinical settings has not been prospectively assessed in a large unselected cohort of fetuses with structural anomalies. We therefore aimed to determine the incremental diagnostic yield (ie, the added value) of WES following uninformative results of standard investigations with karyotype testing and chromosomal microarray in an unselected cohort of sequential pregnancies showing fetal structural anomalies., Methods: In this prospective cohort study, the parents of fetuses who were found to have a structural anomaly in a prenatal ultrasound were screened for possible participation in the study. These participants were predominantly identified in or were referred to the Columbia University Carmen and John Thain Center for Prenatal Pediatrics (New York, NY, USA). Fetuses with confirmed aneuploidy or a causal pathogenic copy number variant were excluded from WES analyses. By use of WES of the fetuses and parents (parent-fetus trios), we identified genetic variants that indicated an underlying cause (diagnostic genetic variants) and genetic variants that met the criteria of bioinformatic signatures that had previously been described to be significantly enriched among diagnostic genetic variants., Findings: Between April 24, 2015, and April 19, 2017, 517 sequentially identified pregnant women found to have fetuses with a structural anomaly were screened for their eligibility for inclusion in our study. 71 (14%) couples declined testing, 87 (17%) trios were missing at least one DNA sample (from either parent or the fetus), 69 (13%) trios had a clinically relevant abnormal karyotype or chromosomal microarray finding, 51 (10%) couples did not consent to WES or withdrew consent, and five (1%) samples were not of good enough quality for analysis. DNA samples from 234 (45%) eligible trios were therefore used for analysis of the primary outcome. By use of trio sequence data, we identified diagnostic genetic variants in 24 (10%) families. Mutations with bioinformatic signatures that were indicative of pathogenicity but with insufficient evidence to be considered diagnostic were also evaluated; 46 (20%) of the 234 fetuses assessed were found to have such signatures., Interpretation: Our analysis of WES data in a prospective cohort of unselected fetuses with structural anomalies shows the value added by WES following the use of routine genetic tests. Our findings suggest that, in cases of fetal anomalies in which assessment with karyotype testing and chromosomal microarray fail to determine the underlying cause of a structural anomaly, WES can add clinically relevant information that could assist current management of a pregnancy. The unique challenges of WES-based prenatal diagnostics require analysis by a multidisciplinary team of perinatal practitioners and laboratory specialists., Funding: Institute for Genomic Medicine (Columbia University Irving Medical Center)., (Copyright © 2019 Elsevier Ltd. All rights reserved.)

Prenatal whole exome sequencing has recently been introduced. It is evolving and although not currently ready for everyday clinical practice, it will likely become part of the diagnostic arsenal available to clinicians caring for couples carrying a pregnancy for which fetal anomalies have been identified. This commentary discusses what it is, its indications, its benefits, and its limitations., (Copyright © 2019 Elsevier Ltd. All rights reserved.)

De novo germline mutations in GNB1 have been associated with a neurodevelopmental phenotype. To date, 28 patients with variants classified as pathogenic have been reported. We add 18 patients with de novo mutations to this cohort, including a patient with mosaicism for a GNB1 mutation who presented with a milder phenotype. Consistent with previous reports, developmental delay in these patients was moderate to severe, and more than half of the patients were non-ambulatory and nonverbal. The most observed substitution affects the p.Ile80 residue encoded in exon 6, with 28% of patients carrying a variant at this residue. Dystonia and growth delay were observed more frequently in patients carrying variants in this residue, suggesting a potential genotype-phenotype correlation. In the new cohort of 18 patients, 50% of males had genitourinary anomalies and 61% of patients had gastrointestinal anomalies, suggesting a possible association of these findings with variants in GNB1. In addition, cutaneous mastocytosis, reported once before in a patient with a GNB1 variant, was observed in three additional patients, providing further evidence for an association to GNB1. We will review clinical and molecular data of these new cases and all previously reported cases to further define the phenotype and establish possible genotype-phenotype correlations., (© 2018 Wiley Periodicals, Inc.)

Objective: The objective of the study is to investigate the experiences of couples who underwent prenatal whole-exome sequencing (WES) for fetal anomalies and the amount/type of information couples want from prenatal WES., Method: Participants in the Fetal Sequencing Study who had genetic testing for fetal anomalies were invited for a semistructured interview about their experience with prenatal WES. A constructivist grounded theory approach with an inductive coding style was used for coding and analysis., Results: We interviewed 29 participants from 17 pregnancies. Two pregnancies had positive prenatal WES results, and 4 were terminated prior to receipt of WES results. The main themes were anxiety and stress around the time of diagnosis, education and consent for WES, coping and support while waiting for results, and receiving genetic testing results. In response to hypothetical scenarios probing the desire for uncertain results, 86% would like to be told about results for which the provider had some degree of uncertainty, and the percent desiring results decreased as the certainty of the results decreased., Conclusion: Participants' experience with exome sequence was similar to other prenatal genetic diagnostic tests, except for the longer wait time for results. When probed with hypothetical scenarios, participants desired more results than were provided in the study, including uncertain results that might diagnose the fetal condition. This highlights the need for specialized prenatal genetic counseling to have nuanced discussions of multiple dimensions of uncertainty with implementation of prenatal WES., (© 2018 John Wiley & Sons, Ltd.)

New genetic tests have rapidly entered clinical care with little consistency in laboratory testing and reporting. Non-invasive prenatal screening using cell free DNA (cfDNA) may either screen for common aneuploidies alone or include chromosomal microdeletions. All cfDNA screening tests have false positives and false negatives, and accordingly laboratories should report positive and negative predictive values. In addition, since fetal fraction plays a significant role in the reliability of results, this should also be reported with all test results. Chromosomal microarray addresses significant clinically relevant information beyond that detected with standard karyotype testing but may, in less than one percent of cases, result in a variant of uncertain significance (VUS). Laboratories should indicate their policies for reporting these VUS findings. In addition, physicians using this testing should be aware of the advantages and disadvantages of the laboratory platforms. Whole-exome and whole-genome sequencing are just entering clinical care and issues of VUS, incidental findings, and phenotype/genotype correlations need to be investigated before these techniques enter routine clinical care., (Copyright © 2018. Published by Elsevier Inc.)

Prenatal genetic diagnosis provides information for pregnancy and perinatal decision-making and management. In several small series, prenatal whole exome sequencing (WES) approaches have identified genetic diagnoses when conventional tests (karyotype and microarray) were not diagnostic. Here, we review published prenatal WES studies and recent conference abstracts. Thirty-one studies were identified, with diagnostic rates in series of five or more fetuses varying between 6.2% and 80%. Differences in inclusion criteria and trio versus singleton approaches to sequencing largely account for the wide range of diagnostic rates. The data suggest that diagnostic yields will be greater in fetuses with multiple anomalies or in cases preselected following genetic review. Beyond its ability to improve diagnostic rates, we explore the potential of WES to improve understanding of prenatal presentations of genetic disorders and lethal fetal syndromes. We discuss prenatal phenotyping limitations, counselling challenges regarding variants of uncertain significance, incidental and secondary findings, and technical problems in WES. We review the practical, ethical, social and economic issues that must be considered before prenatal WES could become part of routine testing. Finally, we reflect upon the potential future of prenatal genetic diagnosis, including a move towards whole genome sequencing and non-invasive whole exome and whole genome testing. © 2017 John Wiley & Sons, Ltd., (© 2017 John Wiley & Sons, Ltd.)

Mitochondrial DNA (mtDNA) depletion syndrome manifests as diverse early-onset diseases that affect skeletal muscle, brain and liver function. Mutations in several nuclear DNA-encoded genes cause mtDNA depletion. We report on a patient, a 3-month-old boy who presented with hepatic failure, and was found to have severe mtDNA depletion in liver and muscle. Whole-exome sequencing identified a homozygous missense variant (c.544C > T, p.R182W) in the accessory subunit of mitochondrial DNA polymerase gamma (POLG2), which is required for mitochondrial DNA replication. This variant is predicted to disrupt a critical region needed for homodimerization of the POLG2 protein and cause loss of processive DNA synthesis. Both parents were phenotypically normal and heterozygous for this variant. Heterozygous mutations in POLG2 were previously associated with progressive external ophthalmoplegia and mtDNA deletions. This is the first report of a patient with a homozygous mutation in POLG2 and with a clinical presentation of severe hepatic failure and mitochondrial depletion., Competing Interests: DECLARATION OF CONFLICT OF INTEREST. None., (Copyright © 2016 Elsevier Masson SAS. All rights reserved.)

Chromosomal microarray analysis has replaced conventional G-banded karyotype in prenatal diagnosis as the first-tier test for the cytogenetic detection of copy number imbalances in fetuses with/without major structural abnormalities. This article reviews the basic technology of microarray; the value and clinical significance of the detection of microdeletions, microduplications, and other copy number variants; as well as the importance of genetic counseling for prenatal diagnosis. It also discusses the current status of noninvasive screening for some of these microdeletion and microduplication syndromes., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Prenatal screening and diagnosis is currently focused on the development of a noninvasive prenatal diagnostic test capable of detecting abnormalities similar to those attainable with an invasive test. One contender is cell-free fetal DNA circulating in maternal plasma and the other is intact fetal cells either from the maternal blood or the cervix. Once adequate fetal DNA is available, laboratory analytic techniques, such as sequencing and microarray, can be applied allowing detection of most cytogenetic and Mendelian fetal disorders. The question is: how close are we to achieving this feat, and what does the future hold?

Background: Carcinosarcomas, a malignancy consisting of squamous cell carcinoma with sarcomatous features, are extremely rare and aggressive tumor of the vulva. Including this case, there are 17 cases reported in the literature. Risk factors for this entity are poorly understood., Case Report: We describe the case of a rapidly growing primary vulvar carcinosarcoma developing in an 84-year-old woman. The patient had previously received pelvic radiation for a squamous carcinoma of the anal canal. The excised vulvar tumor showed a superficial squamous carcinomatous element, associated vulvar intraepithelial neoplasia, and a transition into deeper sarcomatous component. By immunohistochemistry, the carcinomatous component was positive for keratins and negative for vimentin and smooth muscle actin, whereas the sarcomatous component was negative for keratins and positive for vimentin and smooth muscle actin. The patient was treated with hemivulvectomy with sentinel lymph node dissection followed by limited postoperative chemotherapy. The FIGO stage of the vulvar cancer was stage IB (T1 N0 M0), but even with this low stage, the patient had recurrence 17 months after treatment and died of her disease 8 months later. We compared age and stage at presentation, treatment, disease-free survival, and overall survival of our case to other reported vulvar carcinosarcomas., Conclusions: Vulvar carcinosarcomas are poorly characterized aggressive tumors with poor outcome. This is the first case reported that points to previous radiation exposure as a possible etiologic agent for this lesion.

Objective: The purpose of this study was to assess whether endometrial polyps (EMPs) represent cancer precursors., Study Design: Age standardized incidence ratios (SIRs) of histologically verified endometrial cancers (EmCas) were estimated in women with EMPs and in women with uterine leiomyomata, which is a condition that is unrelated to endometrial carcinogenesis. SIRs were calculated as the ratio of observed to expected EmCas based on age-specific incidence rates for female Montreal residents during the same period., Results: Of 1467 women with EMPs, 125 (8.5%) had EmCa. Of 1138 patients with uterine leiomyomata, 133 (11.7%) had EmCa. The SIRs of EmCa for women with EMPs (odds ratio, 8.0; 95% confidence interval, 6.6-9.5) were significantly lower than that in women with leiomyomata (odds ratio, 19.1; 95% confidence interval, 16.0-22.6). Abnormal uterine bleeding was the main reason for evaluating patients with EMP with or without associated EmCa., Conclusion: The findings of higher EmCa incidence are consistent with enhanced detection opportunity rather than with the endometrial cancer precursor potential of EMPs., (Copyright 2010 Mosby, Inc. All rights reserved.)

Background: Coronary artery disease (CAD) is a leading cause of death. The aetiology of this disease is not known, but many important risk factors have been recognised., Objective: To evaluate the effect of smoking on age at the time of coronary artery bypass graft surgery (CABG), and to examine this finding in the light of medical literature., Methods: The authors recruited patients immediately after CABG in a prospective, study in 16 centres and enrolled 408 patients, of which 395 were ultimately analysed., Results: Among the 395 patients analysed, there were 60 smokers and 335 non-smokers. The smokers were 8.4 years younger than non-smokers at the time of index CABG. The average age of smokers was 55.79.0 years, and that of non-smokers was 64.1±9.9 years (p<0.001). Hyperlipidaemia was present in 76.7% of smokers and 74.6% of non-smokers (p-NS). Hypertension was present in 58.3% of smokers and 63.9% of non-smokers (p-NS). Diabetes mellitus was present in 21.3% of smokers and 29.3% of non smokers (p-NS). Left ventricular ejection fraction was 53.0±10.5% in smokers and 53.3 ±13.8% in non-smokers (p-NS). Myocardial infarction had occurred in 41.7% of smokers and 35.5% of non-smokers (p-NS)., Conclusion: Smoking accelerates atherosclerosis and coronary thrombosis resulting in severe form of CAD that cannot be managed by medications or PCI, and requires coronary artery bypass graft surgery (CABG) 8.4 years earlier than non-smokers.

Background: Although coronary artery bypass graft surgery (CABG) is known to reduce angina, previous studies have suggested that anti-anginal medication use is not significantly reduced after CABG. However, it is unclear how functional testing results have an impact on anti-anginal medication prescription patterns., Objectives: To determine whether post-CABG functional testing results impact prescription patterns of anti-anginal medication during the 12 months after CABG., Methods: The Routine versus Selective Exercise Treadmill Testing after Coronary Artery Bypass Graft Surgery (ROSETTA-CABG) Registry is a prospective, multicenter study. We examined anti-anginal medication use (beta blockers, calcium channel blockers and nitrates) at discharge and at 12 months post-CABG with respect to functional testing results among 392 patients., Results: Among the 392 patients, 146 had at least one functional test over the 12-month follow up period. Among the 146 patients, 17% had positive functional tests, 69% had negative tests, and 14% had indeterminate tests. Both beta blocker and calcium channel blocker use did not increase from discharge to 12 months following a positive test (N = 25) (84% vs. 80%; p = NS; 16% vs. 16%; p = NS), while nitrate use increased seven-fold (4% vs. 28%; p = 0.03). However, following a negative test (N = 100), beta blocker use only decreased modestly (85% vs. 70%; p = 0.01), while both calcium channel blocker and nitrate use were unchanged (30% vs. 20%; p = NS; 4% vs. 6%; p = NS, respectively). Following an indeterminate test (N = 21), anti-anginal medication use was unchanged (p = NS for all 3 classes of medication)., Conclusion: The use of anti-anginal medication is only modestly reduced after CABG, and functional testing results during the first year post-CABG do not have a strong impact on prescription patterns of anti-anginal agents.

Background: There is little consensus regarding the use of functional testing after coronary artery bypass graft surgery (CABG). Some physicians opt for a routine functional testing strategy, while others employ a symptom-driven strategy., Objective: To examine the effects of routine post-CABG functional testing on the use of follow-up cardiac procedures and clinical events., Methods: The Routine versus Selective Exercise Treadmill Testing after Coronary Artery Bypass Graft Surgery (ROSETTA-CABG) Registry is a prospective, multicenter cohort study examining the use of functional testing after CABG among 408 patients. The frequencies of functional testing, cardiac procedures, and clinical events were examined during the first 12 months following a successful CABG., Results: Patients were predominantly male (80%) with a mean age of 63 +/- 10 years. During the 12-month follow up, 111 patients were observed to undergo a routine functional testing strategy, while 284 patients underwent a selective strategy. Patients undergoing routine functional testing underwent fewer follow-up cardiac catheterizations, but similar numbers of revascularization procedures (cardiac catheterizations = 0.9% vs. 8.1%; p = 0.027; percutaneous coronary intervention [PCI] = 0.9% vs. 4.6%; p = NS; repeat CABG = 0.0% vs. 0.0%; p = NS, respectively). However, clinical events were less common among patients who underwent routine functional testing including unstable angina (0.0% vs. 6.4%; p = NS), myocardial infarction (MI) (0.0% vs. 2.1%; p = NS), and death (0.9% vs. 1.4%; p = NS). The majority of clinical and procedural events occurred in the selective group who had a positive functional test (clinical events = 33%; procedural events = 40%). In contrast, no events occurred in patients in the routine group with a positive or indeterminate test, while those with a negative test had more events (6.3%) and procedures (6.3%)., Conclusions: Because routine functional testing 1 year after CABG is associated with extremely low event rates, this strategy does not appear to be warranted.

The American College of Cardiology/American Heart Association guidelines for exercise testing do not take a position regarding the utility of routine stress testing after coronary artery bypass grafting (CABG). Our purposes were (1) to document the patterns of use of stress testing after CABG and (2) to establish whether the choice of stress testing strategy is associated with clinical characteristics of patients. The Routine versus Selective Exercise Treadmill Testing after Coronary Artery Bypass Graft Surgery (ROSETTA-CABG) Registry is a prospective multicenter study that examined the use of stress testing after CABG among 395 patients at 16 clinical centers in 6 countries. During the 12 months after CABG, 37% of patients underwent stress testing (range across centers 0% to 100%). Among patients who underwent stress testing, 24% had a clinical indication and 76% had it as a routine follow-up. A total of 65% of stress tests involved exercise treadmill testing alone, 17% involved stress nuclear perfusion imaging, 13% involved stress echocardiographic imaging, and 5% involved other types of stress tests, such as positron emission tomographic scans. The first stress test was performed at a median of 13 weeks after CABG, with 20% of patients having second tests at a median of 28 weeks and 6% having additional tests at a median of 34 weeks. Univariate and multivariate analyses demonstrated that the chief determinant of using routine stress testing was the clinical center. In conclusion, these results suggest that there is little consensus on the appropriate use of stress testing soon after CABG. Practice patterns vary widely; poorly diagnostic tests are used routinely; and the clinical center at which the procedure is performed, rather than the clinical characteristics of the patient, determines the use of stress testing after CABG.