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Background Pregnant patients with Marfan's syndrome (MFS) are at an increased risk for adverse aortic outcomes. While beta-blockers are used to slow aortic root dilatation in nonpregnant MFS patients, the benefit of such therapy in pregnant MFS patients remains controversial. The purpose of this study was to investigate the effect of beta-blockers on aortic root dilatation during pregnancy in MFS patients. Methods This was a longitudinal single-center retrospective cohort study of females with MFS who completed a pregnancy between 2004 and 2020. Clinical, fetal, and echocardiographic data were compared in patients on- versus off-beta-blockers during pregnancy. Results A total of 20 pregnancies completed by 19 patients were evaluated. Beta-blocker therapy was initiated or continued in 13 (65%) of the 20 pregnancies. Pregnancies on-beta-blocker therapy experienced less aortic growth compared with those off-beta-blockers (0.10 [interquartile range, IQR: 0.10–0.20] vs. 0.30 cm [IQR: 0.25–0.35]; p = 0.03). Using univariate linear regression, maximum systolic blood pressures (SBP), increase in SBP, and absence of beta-blocker use in pregnancy were found to be significantly associated with greater increase in aortic diameter during pregnancy. There were no differences in rates of fetal growth restriction between pregnancies on- versus off-beta-blockers. Conclusion This is the first study that we are aware of to evaluate changes in aortic dimensions in MFS pregnancies stratified by beta-blocker use. Beta-blocker therapy was found to be associated with less aortic root growth during pregnancy in MFS patients.

Background: While the incidence of pregnancy has increased among individuals with adult CHD, little has been described about considerations and experiences of patients with adult CHD regarding pregnancy. Objective: We aimed to explore patients’ motivations, concerns, and decision-making processes regarding pregnancy. Methods: In April 2019–January 2020, we conducted in-depth telephone interviews with patients (n = 25) with simple, moderate, or complex adult CHD, who received prenatal care at the University of Washington during 2010–2019 and experienced a live birth. Transcripts were analysed using thematic analysis. Results: Participants described motivations for pregnancy as both internal desires (motherhood, marriage fulfillment, biological connection, fetal personhood, self-efficacy) and external drivers (family or community), as well as concerns for the health and survival of themselves and the fetus. Factors that enabled their decision to maintain a pregnancy included having a desire that outweighed their perceived risk, using available data to guide their decision, planning for contingencies and knowing their beliefs about termination, plus having a trusted healthcare team, social support, and resources. Factors that led to insurmountable risk in subsequent pregnancies included desire having been fulfilled by the first pregnancy, compounding risk with age and additional pregnancies, new responsibility to an existing child, and reduced healthcare team and social support. Conclusions: Understanding individuals’ motivations and concerns, and how they weigh their decisions to become or remain pregnant, can help clinicians better support patients with adult CHD considering pregnancy. Clinician education on patient experiences is warranted.

OBJECTIVE: Aberrant DNA methylation is an early event in carcinogenesis which could be leveraged to detect ovarian cancer (OC) in plasma. METHODS: DNA from frozen OC tissues, benign fallopian tube epithelium (FTE), and buffy coats from cancer-free women underwent reduced representation bisulfite sequencing (RRBS) to identify OC MDMs. Candidate MDM selection was based on receiver operating characteristic (ROC) discrimination, methylation fold change, and low background methylation among controls. Blinded biological validation was performed using methylated specific PCR on DNA extracted from independent OC and FTE FFPE tissues. MDMs were tested using Target Enrichment Long-probe Quantitative Amplified Signal (TELQAS) assays in pre-treatment plasma from women newly diagnosed with OC and population-sampled healthy women. A random forest modeling analysis was performed to generate predictive probability of disease; results were 500-fold in silico cross-validated. RESULTS: Thirty-three MDMs showed marked methylation fold changes (10 to >1000) across all OC subtypes vs FTE. Eleven MDMs (GPRIN1, CDO1, SRC, SIM2, AGRN, FAIM2, CELF2, RIPPLY3, GYPC, CAPN2, BCAT1) were tested on plasma from 91 women with OC (73 (80%) high-grade serous (HGS)) and 91 without OC; the cross-validated 11-MDM panel highly discriminated OC from controls (96% (95% CI, 89–99%) specificity; 79% (69–87%) sensitivity, and AUC 0.91 (0.86 – 0.96)). Among the 5 stage I/II HGS OCs included, all were correctly identified. CONCLUSIONS: Whole methylome sequencing, stringent filtering criteria, and biological validation yielded candidate MDMs for OC that performed with high sensitivity and specificity in plasma. Larger plasma-based OC MDM studies, including testing of pre-diagnostic specimens, are warranted.

Pregnancy-associated aortic dissection (AD) is a rare event, with an incidence of 0.0004% per pregnancy. The work of the Aortic Dissection Collaborative identified pregnancy-associated AD as a high-priority topic, despite its rarity. The Pregnancy Working Group, which included physicians and patient stakeholders, performed a systematic literature review of pregnancy-associated AD from 1960 to 2021 and identified 6,333 articles through PubMed, OVID MEDLINE, Cochrane, Embase, CINAHL and Web of Science. The inclusion criterion was AD in pregnant populations and exclusion criteria were case reports, conference abstracts, and languages other than English. Assessment of full-text articles for eligibility after removal of duplicates from all databases yielded 68 articles to be included in the final review. Topics included were timing of AD in pregnancy, type of AD, and management considerations of pregnancy-associated AD. The Pregnancy Working Group identified gaps in knowledge and future areas of research for pregnancy-associated AD, including clinical management, mental health outcomes post AD, reproductive and genetic counseling, and contraception after AD. Future collaborative projects could be a multicenter, international registry for all pregnancy-associated AD to refine the risk factors, best practice and management of AD in pregnancy. In addition, future mixed methodology studies may be useful to explore social, mental, and emotional factors related to pregnancy-associated AD and to determine support groups' effect on anxiety and depression related to these events in the pregnancy and postpartum period.