The Role of Preprocedure Genetic Counseling in Pregnancies Interrupted for Fetal Abnormalities.

OBJECTIVE: Congenital birth defects affect 3 to 5% of pregnancies. Genetic counseling can help patients navigate the testing process and understand results. The study objective was to identify predictors and utility of genetic counseling at the time of pregnancy termination. Additionally, we aimed to see what proportion of patients would benefit from additional testing based on the results of the genetic testing. STUDY DESIGN: This was a retrospective cohort review of all terminations performed for fetal anomalies by an academic center from July 2016 to May 2020. Indications were stratified by abnormal serum screening or types of abnormal ultrasound findings. Data were abstracted regarding uptake of genetic counseling and testing results. Abnormal results that warranted additional testing regarding recurrence risks were noted. Multivariable logistic regression was performed to identify predictors of receipt of genetic counseling and testing. RESULTS: Of 387 patients, 57% (n = 220) received preprocedure genetic counseling and 43% (n = 167) did not. Among patients who received diagnostic testing, 62% (n = 194) had genetic counseling compared with 38% (n = 121) without counseling (adjusted odds ratio 2.46, 95% confidence interval [1.41-4.29], p < 0.001). Among the entire cohort, 38% (n = 148) had suspected aneuploidy based on serum screening. Of these, 89% (n = 132/148) had definitive testing, 92% (n = 122/132) confirming the aneuploidy. Among the other 68% (n = 239) with structural anomalies, 76% (n = 183) had diagnostic testing with 29% (n = 53) yielding an abnormal result. Among those fetuses with structural anomalies, 36% (n = 19/53) of genetic diagnoses warranted additional parental testing because of risk of recurrence compared with only 2% (n = 2/122) of patients with abnormal serum screening results alone. CONCLUSION: Genetic counseling was associated with increased uptake of diagnostic testing, which yielded useful information and prompted additional testing. This is important for determining etiology and recurrence risk and should be offered to patients presenting for termination for fetal indications, as well as providing diagnostic closure for patients. KEY POINTS: · Genetic counseling increases the uptake of diagnostic testing in patients with fetal anomalies.. · Patients with ultrasound anomalies received less diagnostic testing despite actionable results 36% of the time.. · Genetic testing is invaluable for recurrence risk counseling even if patients chose to terminate..

Twin Vaginal Deliveries in Labor Rooms: A Cost-Effectiveness Analysis.

OBJECTIVE: Twin vaginal deliveries (VDs) are often performed in the operating room (OR) given the theoretical risk of conversion to cesarean delivery (CD) for the aftercoming twin. We aim to evaluate the cost-effectiveness of performing VDs for twin gestations in the labor and delivery room (LDR) versus OR. STUDY DESIGN: We conducted a cost-effectiveness analysis using a decision-analysis model that compared the costs and effectiveness of two strategies of twin deliveries undergoing a trial of labor: (1) intended delivery in the LDR and 2) delivery in the OR. Sensitivity analyses were performed to assess strength and validity of the model. Primary outcome was incremental cost-effectiveness ratio (ICER) defined as cost needed to gain 1 quality-adjusted life year (QALY). RESULTS: In the base-case scenario, where 7% of deliveries resulted in conversion to CD for twin B, attempting to deliver twins in the LDR was the most cost-effective strategy. For every QALY gained by delivering in the OR, 243,335 USD would need to be spent (ICER). In univariate sensitivity analyses, the most cost-effective strategy shifted to delivering in the OR when the following was true: (1) probability of successful VD was less than 86%, (2) probability of neonatal morbidity after emergent CD exceeded 3.5%, (3) cost of VD in an LDR exceeded 10,500 USD, (4) cost of CD was less than 10,000 USD, or (5) probability of neonatal death from emergent CD exceeded 2.8%. Assuming a willingness to pay of 100,000 USD per neonatal QALY gained, attempted VD in the LDR was cost effective in 51% of simulations in the Monte Carlo analysis. CONCLUSION: Twin VDs in the LDR are cost effective based on current neonatal outcome data, taking into account gestational age and associated morbidity. Further investigation is needed to elucidate impact of cost and outcomes on optimal utilization of resources. KEY POINTS: · Cost effectiveness of twin VDs in the LDR versus OR was assessed.. · Twin VDs in the LDR are cost effective based on current neonatal outcome data.. · Attempted VD in the LDR was cost effective in 51% of simulations in the Monte Carlo analysis..

Maternal-fetal medicine fellows' perception and comfort with obstetrical ultrasound and prenatal diagnosis.

BACKGROUND: Ultrasound training is a vital component of maternal-fetal medicine fellowships in the United States. Of the 18 months of core clinical training, the American Board of Obstetrics and Gynecology currently requires a minimum of 3 months to be dedicated to ultrasound to be eligible for board certification. However, the experience and degree of hands-on training differ among the fellowship programs and have not been reassessed for nearly a decade. OBJECTIVE: To assess regional heterogeneity in the ultrasound training experience during maternal-fetal medicine fellowship in the United States. STUDY DESIGN: A survey was distributed to postgraduate year (PGY)-6 maternal-fetal medicine fellows registered to attend an annual ultrasound training course before the conference (n=114). For programs with >1 fellow attending (n=39), only 1 of them completed the survey to represent the program. The questions included demographics of the program, ultrasound training structure, the fellows' self-perception of ultrasound capabilities, research, mentorship, and technical aspects of sonography. RESULTS: Seventy two postgraduate year 6 fellows with a wide geographic distribution as follows completed the survey (96% response rate): 10 (14%) from the West, 16 (22%) from the Midwest, 17 (24%) from the South, and 29 (40%) from the Northeast. Respondents undergoing training in the South were less likely to report feeling comfortable performing nuchal translucency and detailed anatomic surveys than those from other regions (nuchal translucency: P=.046; anatomy: P=.011). Most of the respondents reported feeling comfortable performing growth (78%) and umbilical artery Doppler (58%) and feeling uncomfortable with three-dimensional ultrasound, neurosonography, and fetal echocardiography. Respondents in the Northeast were more likely to report feeling comfortable performing chorionic villus sampling (P=.001). There was no difference among fellowship programs in the presence or absence of ultrasound curriculum, bedside teaching, ultrasound-focused research mentorship, or months of ultrasound training. CONCLUSION: Despite the standardization of ultrasound training structure across the United States, there remains regional heterogeneity in fellow self-reported comfort with specific ultrasound techniques and chorionic villus sampling at a midpoint in their fellowship training. The maternal-fetal medicine attending involvement at the bedside did not affect the fellow self-reported comfort with ultrasound surveys. This study highlights the need for further optimization of maternal-fetal medicine fellowship ultrasound training, especially in advanced sonography and diagnostic procedures.

Preferences and comfort of maternal fetal medicine fellows in the United States with operative vaginal deliveries.

OBJECTIVE: The objective of this study was to determine the current landscape of vacuum and forceps-assisted vaginal delivery (FAVD) preferences and comfort across maternal fetal medicine (MFM) fellows in the United States (U.S.). METHODS: A survey was sent to MFM fellowship program directors for distribution to current MFM fellows across U.S. Geographic regions, as determined using Census Bureau-designated regions. The survey looked at comfort and experience with FAVDs and vacuum-assisted vaginal deliveries (VAVD) throughout their post-graduate training. Descriptive statistics were used to analyze survey responses. Respondents were compared by post-graduate year (PGY) and region. RESULTS: One hundred six MFM fellows (32%) completed the survey. 22.6% of MFM fellows had performed greater than 30 FAVDs, with 33% having performed ≤10 FAVDs. In comparison, 35.8% of fellows had performed more than 30 VAVDs. While 95.2% of fellows feel prepared to perform a VAVD independently, only 59.4% feel prepared to do FAVDs independently. Never the less, 53% of MFM fellows favor performing a FAVD. While some regional differences were seen, there was no significant difference in the percent of fellows by geographic region who have performed >30 FAVD (p = .87). MFM fellows in the West are most likely to have performed >30 FAVD at 57.8%, compared to 42.3, 35, and 11.4% in the Midwest, South, and Northeast, respectively. CONCLUSION: MFM fellows are more confident with VAVD compared to FAVD. Despite feeling less confident performing FAVD (versus VAVD), the majority of MFM fellows feel comfortable performing FAVDs independently. Region of training fellowship training does not significantly affect one's confidence in FAVDs. A coordinated nationwide effort to increase exposure to and confidence for FAVDs should be considered.

The impact of state legalization on rates of marijuana use in pregnancy in a universal drug screening population.

OBJECTIVE: To evaluate the effect of state legalization of rate on marijuana use in pregnancy in a population with universal drug screening. METHODS: This is a retrospective cohort study from July 2016 to December 2018 of pregnant women who had universal drug screening of marijuana use before and after legalization of recreational marijuana in California on 1 January 2018. Maternal medical conditions and neonatal outcomes associated with usage were also evaluated. Student's t-test, Wilcoxon rank-sum test, and multiple linear regression were used for statistical analyses. RESULTS: Of 466 women, initial marijuana usage in pregnancy confirmed by urine drug test increased after legalization from 6 to 11% (p = .05). Factors associated with marijuana usage included younger age, white or black race, single marital status, psychiatric disorders, intimate partner violence and concomitant tobacco and alcohol use. 73% of users in this study had cessation of marijuana use with subsequent negative UDT. There was no statistical difference in rates of preterm birth, small for gestational age, NICU admission, or Apgar scores, when adjusted for other risk factors. CONCLUSION: Rates of marijuana usage in pregnant women who underwent universal drug screening increased after legalization. There were no differences in neonatal outcomes between users and non-users.

Predicting Adverse Outcomes in Monochorionic-Diamniotic Twins: The Role of Intertwin Discrepancy in Middle Cerebral Artery Doppler Measurements and the Cerebroplacental Ratio.

OBJECTIVE: This study was aimed to evaluate the role of intertwin discrepancy in middle cerebral artery peak systolic velocity (MCA-PSV) and cerebroplacental ratio (CPR) for the prediction of adverse outcomes in monochorionic-diamniotic (MCDA) twin pregnancies. STUDY DESIGN: A retrospective cohort study of MCDA pregnancies that underwent ultrasound surveillance at a perinatal referral center from 2007 to 2017. Intertwin MCA-PSV discrepancy (MCA-ΔPSV-MoM) was defined as the absolute difference of MCA-PSV multiple of the median (MoM) for gestational age between twins. Intertwin CPR discrepancy (CPR-Δ) was defined as the absolute difference of CPR between twins. The maximum MCA-ΔPSV-MoM and CPR-Δ before and after 26 weeks of gestation were assessed as predictors of pregnancy and neonatal outcomes through simple logistic regression models and Pearson's correlation coefficients. Receiver operating characteristic (ROC) curves were generated to determine the predictive value of maximum MCA-ΔPSV-MoM and CPR-Δ. RESULTS: A total of 143 MCDA pregnancies met inclusion criteria. There was a significant association between MCA-ΔPSV-MoM at <26 weeks and the development of twin anemia-polycythemia sequence (TAPS; p = 0.007), intrauterine fetal demise (IUFD; p = 0.009), and neonatal intensive care unit (NICU) admission (p < 0.05). MCA-ΔPSV-MoM at ≥26 weeks was associated with the development of TAPS (p < 0.001). CPR-Δ at <26 weeks was associated with the development of twin-twin transfusion syndrome (TTTS; p = 0.03) and NICU admission (p = 0.02). MCA-ΔPSV-MoM at ≥26 weeks was highly predictive of TAPS (area under curve [AUC] = 0.92). A cut-off of 0.44 would identify TAPS with 100% sensitivity and 73% specificity. CONCLUSION: In MCDA pregnancies, intertwin MCA and CPR discrepancies are associated with adverse pregnancy and neonatal outcomes, including TAPS, TTTS, IUFD, and NICU admission. Evaluation of intertwin MCA and CPR differences demonstrated the potential for clinical predictive utility in the surveillance of MCDA twin pregnancies. KEY POINTS: · Intertwin discrepancy of MCA-PSV and CPR is associated with adverse pregnancy outcomes.. · Intertwin differences in Doppler ultrasound may occur prior to meeting diagnostic criteria for TTTS or TAPS.. · There is potential clinical predictive utility in MCA and CPR surveillance of MCDA twin pregnancies..

Complicated Monochorionic-Diamniotic Twins in a Pregnant Woman with COVID-19 in the Second Trimester.

OBJECTIVE: A majority of studies evaluating the risk of vertical transmission and adverse outcomes in pregnancies with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) are mostly based on third-trimester infections. There is limited data available on pregnancy sequelae of maternal infection in the first or second trimester. STUDY DESIGN: We present a patient with monochorionic-diamniotic twins that develops coronavirus disease 2019 infection at 15 weeks of gestation. The pregnancy is further complicated by stage II twin-twin transfusion syndrome. She undergoes laser ablation, which is complicated by development of a subchorionic hematoma. The patient then develops Escherichia coli bacteremia, resulting in septic shock and preterm labor followed by previable delivery at 21 weeks of gestation. Amniotic fluid and placenta were negative for SARS-CoV-2 by real-time polymerase chain reaction. CONCLUSION: This case of SARS-CoV-2 argues against transplacental transmission after a second-trimester infection but brings attention to the possible downstream complications that may arise following early infection. KEY POINTS: · Vertical transmission of SARS-CoV-2 is not evident after a second-trimester infection.. · Antepartum coronavirus disease 2019 may cause vascular placental changes and placental insufficiency.. · SARS-CoV-2 is associated with a maternal hypercoagulable state with adverse perinatal outcomes..

Randomized control trial of postpartum visits at 2 and 6 weeks.

BACKGROUND: The postpartum period is critical, and women are at highest risk of perinatal complications; however, patient attendance at postpartum clinic visits is low. OBJECTIVE: This study aimed to determine whether decreasing the time to an initial postpartum visit from 6 weeks to 2 weeks can increase the attendance rates of patients in routine postpartum visits. STUDY DESIGN: We conducted a parallel, randomized, nonblinded trial at a publicly insured clinic comparing a single 6-week postpartum visit (control) with 2 visits at 2 and 6 weeks after delivery (intervention). The primary outcome was attendance at 1 or more routine postpartum visits. Secondary outcomes were emergency department visits within 30 days after delivery and nonroutine clinic visits. Multivariable regression was performed to identify predictors of clinic nonattendance. To demonstrate a significant increase from the baseline clinic attendance rate of 70% to 85%, 250 participants were needed. RESULTS: Between November 2018 and March 2020, 250 patients were randomized and analyzed. The patient population had multiple comorbidities, notably obesity (53%), diabetes mellitus (30%), mental health disorders (22%), and hypertensive disorders (21%). The attendance at 1 or more postpartum visits was not significantly different among the control and intervention arms (58% vs 70%; P=.065). The 2-week visit had an attendance rate of 41% (51 of 125), and the 6-week visit had an attendance rate of 60% (151 of 250). After adjusting for confounders, significant predictors of postpartum visit nonattendance included younger age, multiparity, and being a patient from the high-risk obstetrical clinic. The rate of emergency department visits was similar between the control and intervention arms (8% vs 6%; P=.635). However, more patients in the control arm come to the clinic for nonroutine visits (30% vs 16%; P=.010). In response to a patient satisfaction survey on the optimal timing of the postpartum visit, most respondents (59%) would have preferred both the 2- and 6-week visits. CONCLUSION: The addition of a 2-week postpartum visit to the 6-week postpartum visit did not increase the likelihood of attendance of patients in a routine visit but did decrease the number of urgent clinic visits.

Forceps-assisted vaginal delivery: the landscape of obstetrics and gynecology resident training.

OBJECTIVE: The objective of this study was to determine the current landscape of forceps-assisted vaginal delivery (FAVD) training in the USA (US) amongst obstetrics and gynecology (OB/GYN) residents. We investigated national and regionalization of resident interest by trainee level and skill acquisition in a climate of FAVD decline. STUDY DESIGN: An anonymous 20-question survey was distributed to US OB/GYN residency programs. Census Bureau-designated regions were used. Descriptive statistics were used to analyze survey responses. Respondents were compared by postgraduate year (PGY) and region. RESULTS: The survey was completed by 434 OB/GYN residents over one academic year with representation from all US regions. PGY-3 and PGY-4 residents completed statistically significant more FAVDs compared to PGY-1 and PGY-2 residents combined (p < 0.0001). By region, there was a significant difference in the number of FAVDs completed. The Midwest performed the most and Northeast performed the least (p < .0001). There was a statistically significant difference in simulation experiences by PGY (p < .0001) and by region (p = .0003) and in selfreported preparedness to perform FAVDs independently by PGY and by region. CONCLUSIONS: Residents are motivated to learn FAVD. Our study is the first to demonstrate that residents are not obtaining adequate experience irrespective of geographic region. Current training should implement simulation and continued acquisition of training in FAVD.

Emergency department use among postpartum women with mental health disorders.

Background: Mental health disorders are becoming more recognized in pregnancy. Whether mental health disorders are associated with health services utilization after child birth is not completely understood. Objective: This study aimed to investigate postpartum emergency department use within 30 days of delivery among women with preexisting mental health disorders during pregnancy. Study Design: This was a retrospective cohort study evaluating emergency department use among postpartum women with or without mental health disorders who delivered at an academic center between January 2014 and June 2018. Demographic and outcome data were medical record abstracted and analyzed. Multivariate regression was performed to adjust for covariates. Results: During the study period, 13,605 women delivered at the institution, 2355 of whom (17.3%) had an underlying mental health disorder. The primary diagnoses of mental health disorder were anxiety (48.8%), depression (34.8%), substance use disorder (11.4%), bipolar disorder (3.4%), psychosis (0.7%), and other (0.8%). There were a total of 565 emergency department visits within 30 days of delivery. Women who presented to the emergency department after delivery were more likely to have public insurance, identify as black or Asian, and have an underlying mental health disorder. Among women with mental health disorders, 155 (6.6%) used the emergency department within 30 days of their delivery compared with 410 (3.6%) of patients without mental health disorder (adjusted odds ratio, 1.74; 95% confidence interval, 1.42-2.13; P<.001). When assessing the risk of emergency department usage per the type of mental health disorder, anxiety (adjusted odds ratio, 1.73; 95% confidence interval, 1.31-2.27) and depression (adjusted odds ratio, 2.13; 95% confidence interval, 1.59-2.86) carried the highest risk. Compared with women without mental health disorders, women with underlying mental health disorders had more presentations for hypertension (15.5% vs 11.2%) and psychiatric evaluations (4.5% vs 0.2%; both P<.001). Conclusion: Women with mental health disorders use the emergency department during the postpartum period for psychiatric and obstetrical reasons more frequently than women without mental health disorders. Increased surveillance, treatment, and follow-up during pregnancy and the early postpartum period may be warranted for this high-risk population.

Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.

BACKGROUND: The cause of most fetal anomalies is not determined prenatally. Exome sequencing has transformed genetic diagnosis after birth, but its usefulness for prenatal diagnosis is still emerging. Nonimmune hydrops fetalis (NIHF), a fetal abnormality that is often lethal, has numerous genetic causes; the extent to which exome sequencing can aid in its diagnosis is unclear. METHODS: We evaluated a series of 127 consecutive unexplained cases of NIHF that were defined by the presence of fetal ascites, pleural or pericardial effusions, skin edema, cystic hygroma, increased nuchal translucency, or a combination of these conditions. The primary outcome was the diagnostic yield of exome sequencing for detecting genetic variants that were classified as either pathogenic or likely pathogenic according to the criteria of the American College of Medical Genetics and Genomics. Secondary outcomes were the percentage of cases associated with specific genetic disorders and the proportion of variants that were inherited. RESULTS: In 37 of the 127 cases (29%), we identified diagnostic genetic variants, including those for disorders affecting the RAS-MAPK cell-signaling pathway (known as RASopathies) (30% of the genetic diagnoses); inborn errors of metabolism and musculoskeletal disorders (11% each); lymphatic, neurodevelopmental, cardiovascular, and hematologic disorders (8% each); and others. Prognoses ranged from a relatively mild outcome to death during the perinatal period. Overall, 68% of the cases (25 of 37) with diagnostic variants were autosomal dominant (of which 12% were inherited and 88% were de novo), 27% (10 of 37) were autosomal recessive (of which 95% were inherited and 5% were de novo), 1 was inherited X-linked recessive, and 1 was of uncertain inheritance. We identified potentially diagnostic variants in an additional 12 cases. CONCLUSIONS: In this large case series of 127 fetuses with unexplained NIHF, we identified a diagnostic genetic variant in approximately one third of the cases. (Funded by the UCSF Center for Maternal-Fetal Precision Medicine and others; ClinicalTrials.gov number, NCT03412760.).

Obstetrical Unit Response to the COVID-19 Pandemic: OUR Study.

OBJECTIVE: This study aimed to describe the response of labor and delivery (L&D) units in the United States to the novel coronavirus disease 2019 (COVID-19) pandemic and determine how institutional characteristics and regional disease prevalence affect viral testing and personal protective equipment (PPE). STUDY DESIGN: A cross-sectional survey was distributed electronically through the Society for Maternal-Fetal Medicine e-mail database (n = 584 distinct practices) and social media between April 14 and 23, 2020. Participants were recruited through "snowballing." A single representative was asked to respond on behalf of each L&D unit. Data were analyzed using Chi-square and Fisher's exact tests. Multivariable regression was performed to explore characteristics associated with universal testing and PPE usage. RESULTS: A total of 301 surveys (estimated 51.5% response rate) was analyzed representing 48 states and two territories. Obstetrical units included academic (31%), community teaching (45%) and nonteaching hospitals (24%). Sixteen percent of respondents were from states with high prevalence, defined as higher "deaths per million" rates compared with the national average. Universal laboratory testing for admissions was reported for 40% (119/297) of units. After adjusting for covariates, universal testing was more common in academic institutions (adjusted odds ratio [aOR] = 1.73, 95% confidence interval [CI]: 1.23-2.42) and high prevalence states (aOR = 2.68, 95% CI: 1.37-5.28). When delivering asymptomatic patients, full PPE (including N95 mask) was recommended for vaginal deliveries in 33% and for cesarean delivery in 38% of responding institutions. N95 mask use during asymptomatic vaginal deliveries remained more likely in high prevalence states (aOR = 2.56, 95% CI: 1.29-5.09) and less likely in hospitals with universal testing (aOR = 0.42, 95% CI: 0.24-0.73). CONCLUSION: Universal laboratory testing for COVID-19 is more common at academic institutions and in states with high disease prevalence. Centers with universal testing were less likely to recommend N95 masks for asymptomatic vaginal deliveries, suggesting that viral testing can play a role in guiding efficient PPE use. KEY POINTS: · Heterogeneity is seen in institutional recommendations for viral testing and PPE.. · Universal laboratory testing for COVID-19 is more common at academic centers.. · N95 mask use during vaginal deliveries is less likely in places with universal testing..

Novel Use of a Social-Media-Based Survey to Detect Regional Differences in Management of Monochorionic-Diamniotic Twins.

OBJECTIVE: This study aims to evaluate the utility of social media to distribute a patient survey on differences in management and outcomes of monochorionic-diamniotic (MCDA) pregnancies. STUDY DESIGN: A cross-sectional survey was posted to an English-language MCDA twins patient-centered support group within the social media site, Facebook from April 2, 2018 to June 26, 2018. Subjects were recruited through a technique called "snowballing," whereby individuals shared the survey to assist with recruiting. Patient reported data were analyzed using Chi-square and Kruskal-Wallis's tests to explore characteristics associated with surveillance and outcomes as related to region and provider type. RESULTS: Over 3 months, the post "reached" 14,288 Facebook users, among which 5,653 (40%) clicked on the post. A total of 2,357 respondents with MCDA pregnancies completed the survey. Total 1,928 (82%) were from the United States (US) and 419 (18%) from other countries. Total 85% of patients had co-management with maternal-fetal medicine (MFM), more in the US compared with the rest of the world (87 vs. 74%, p < 0.01). MFM involvement led to increased adherence to biweekly ultrasounds (91 vs. 65%, p < 0.01), diagnosis of monochorionicity by 12 weeks (74 vs. 69%, p < 0.01) and better education about twin-twin transfusion syndrome (90 vs. 66%, p < 0.01). Pregnancies with MFM involvement had a higher take-home baby rate for both babies (92 vs. 89%, p < 0.01) or for at least one baby (98 vs. 93%, p < 0.01) compared with those without MFM involvement. CONCLUSION: A survey distributed via social media can be effective in evaluating real-life management and outcomes of an uncommon obstetrical diagnosis. This survey elucidates wide international variation in adherence to guidelines, management, and outcomes.

Fetal cardiac rhabdomyomas treated with maternal sirolimus.

OBJECTIVE: To review the pathophysiology of rhabdomyomas and the emerging option of prenatal treatment of fetal cardiac rhabdomyomas. METHODS: We present a case of fetal rhabdomyomas causing significant hemodynamic compromise that received in utero treatment of maternal sirolimus. Genetic amniocentesis confirmed a TSC2 mutation. A treatment program was initiated with a 10-mg loading dose titrated to a goal maternal trough of 10 to 15 ng/dL. In order to follow fetal cardiac function, a sophisticated method of speckle tracking echocardiography was used before and after treatment. Obstetric ultrasound was used to monitor fetal growth, and clinical surveillance, echocardiography, and brain MRI were used to monitor postnatal growth and development through 6 months of neonatal life. RESULTS: Sirolimus was initiated from 28 to 36 weeks of gestation with improvement of cardiac status. During this period, intrauterine growth restriction developed. Postnatally, the infant has had stable rhabdomyomas and cardiac function without reinitiating sirolimus. Brain MRI demonstrated scattered cortical tubers and subependymal nodules, and the infant has not had seizure-like activity. At 6 months of age, the infant has achieved appropriate developmental milestones. CONCLUSION: In counseling cases of prenatal onset large obstructing rhabdomyomas and cardiac compromise, in utero sirolimus treatment can be considered.

Characterization of Retinal Lesions Secondary to Hemophagocytic Lymphohistiocytosis With OCTA.

Hemophagocytic lymphohistiocytosis (HLH) is a high-mortality primary immunologic or genetic disorder that rarely presents with ocular symptoms. This is a case report of a 30-year-old Asian female with quiescent HLH in whom retinal lesions were identified during the third trimester of pregnancy. Multimodal imaging, including the first use of optical coherence tomography angiography (OCTA) in HLH, was used to characterize these lesions. OCTA was useful for distinguishing chronic ocular HLH from other uveitic syndromes affecting the retina. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:653-655.].