Clinical implications of crown-rump length discordance at 11 to 14 weeks in dichorionic twins.

BACKGROUND: Crown-rump length discordance, defined as ≥10% discordance, has been investigated as an early sonographic marker of subsequent growth abnormalities and is associated with an increased risk of fetal loss in twin pregnancies. Previous studies have not investigated the prevalence of fetal aneuploidy or structural anomalies in twins with discordance or the independent association of crown-rump length discordance with adverse perinatal outcomes. Moreover, data are limited on cell-free DNA screening for aneuploidy in dichorionic twins with discordance. OBJECTIVE: This study aimed to evaluate whether crown-rump length discordance in dichorionic twins between 11 and 14 weeks of gestation is associated with a higher risk of aneuploidy, structural anomalies, or adverse perinatal outcomes and to assess the performance of cell-free DNA screening in dichorionic twin pregnancies with crown-rump length discordance. STUDY DESIGN: This was a secondary analysis of a multicenter retrospective cohort study that evaluated the performance of cell-free DNA screening for the common trisomies in twin pregnancies from December 2011 to February 2020. For this secondary analysis, we included live dichorionic pregnancies with crown-rump length measurements between 11 and 14 weeks of gestation. First, we compared twin pregnancies with discordant crown-rump lengths with twin pregnancies with concordant crown-rump lengths and analyzed the prevalence of aneuploidy and fetal structural anomalies in either twin. Second, we compared the prevalence of a composite adverse perinatal outcome, which included preterm birth at <34 weeks of gestation, hypertensive disorders of pregnancy, stillbirth or miscarriage, small-for-gestational-age birthweight, and birthweight discordance. Moreover, we assessed the performance of cell-free DNA screening in pregnancies with and without crown-rump length discordance. Outcomes were compared with multivariable regression to adjust for confounders. RESULTS: Of 987 dichorionic twins, 142 (14%) had crown-rump length discordance. The prevalence of aneuploidy was higher in twins with crown-rump length discordance than in twins with concordance (9.9% vs 3.9%, respectively; adjusted relative risk, 2.7; 95% confidence interval, 1.4-4.9). Similarly, structural anomalies (adjusted relative risk, 2.5; 95% confidence interval, 1.4-4.4]) and composite adverse perinatal outcomes (adjusted relative risk, 1.2; 95% confidence interval, 1.04-1.3) were significantly higher in twins with discordance. A stratified analysis demonstrated that even without other ultrasound markers, there were increased risks of aneuploidy (adjusted relative risk, 3.5; 95% confidence interval, 1.5-8.4) and structural anomalies (adjusted relative risk, 2.7; 95% confidence interval, 1.5-4.8) in twins with CRL discordance. Cell-free DNA screening had high negative predictive values for trisomy 21, trisomy 18, and trisomy 13, regardless of crown-rump length discordance, with 1 false-negative for trisomy 21 in a twin pregnancy with discordance. CONCLUSION: Crown-rump length discordance in dichorionic twins is associated with an increased risk of aneuploidy, structural anomalies, and adverse perinatal outcomes, even without other sonographic abnormalities. Cell-free DNA screening demonstrated high sensitivity and negative predictive values irrespective of crown-rump length discordance; however, 1 false-negative result illustrated that there is a role for diagnostic testing. These data may prove useful in identifying twin pregnancies that may benefit from increased screening and surveillance and are not ascertained by other early sonographic markers.

A Low-Cost, High-Fidelity Simulator for Transabdominal Chorionic Villus Sampling.

INTRODUCTION: Chorionic villus sampling (CVS) remains essential for first-trimester genetic diagnosis, yet clinical volume may be insufficient to train new clinicians in the technique. Available simulation models are expensive, require animal parts or specialized resins, and cannot be stored for repeated use. METHODS: We present a model for trans-abdominal CVS (TA-CVS) which is constructed from readily available materials costing less than $10 and can be refrigerated and re-used to train maternal-fetal medicine fellows in CVS. RESULTS: All three attending physicians performing TA-CVS at our institution described the model as an accurate visual and tactile simulation, prompting its integration into our fellowship curriculum. To date, two senior fellows have achieved competency on the simulator and begun to perform clinical CVS under supervision, one of whom is an author on this paper. Both fellows and attendings indicated that the simulator provided a valuable tool for repeated practice prior to clinical CVS. Simulators are now maintained on the unit and have been re-used for 3 months and dozens of simulated procedures each without any apparent qualitative degradation in performance. DISCUSSION/CONCLUSION: We describe a low-cost easily constructed, durable, high-fidelity simulator for TA-CVS.

Cell-free DNA screening for trisomy 21 in twin pregnancy: a large multicenter cohort study.

BACKGROUND: Analysis of cell-free DNA from maternal blood provides effective screening for trisomy 21 in singleton pregnancies. Data on cell-free DNA screening in twin gestations are promising although limited. In previous twin studies, cell-free DNA screening was primarily performed in the second trimester and many studies did not report chorionicity. OBJECTIVE: This study aimed to evaluate the screening performance of cell-free DNA for trisomy 21 in twin pregnancies in a large, diverse cohort. A secondary aim was to evaluate screening performance for trisomy 18 and trisomy 13. STUDY DESIGN: This was a retrospective cohort study of twin pregnancies from 17 centers for which cell-free DNA screening was performed from December 2011 to February 2020 by one laboratory using massively parallel sequencing technology. Medical record review was conducted for all newborns and data on the birth outcome, the presence of any congenital abnormalities, phenotypic appearance at birth, and any chromosomal testing that was undertaken in the antenatal or postnatal period were extracted. Cases with a possible fetal chromosomal abnormality with no genetic test results were reviewed by a committee of maternal-fetal medicine geneticists. Cases with a vanishing twin and inadequate follow-up information were excluded. A minimum of 35 confirmed cases of trisomy 21 was required to capture a sensitivity of at least 90% with a prevalence of at least 1.9% with 80% power. Test characteristics were calculated for each outcome. RESULTS: A total of 1764 samples were sent for twin cell-free DNA screening. Of those, 78 cases with a vanishing twin and 239 cases with inadequate follow-up were excluded, leaving a total of 1447 cases for inclusion in the analysis. The median maternal age was 35 years and the median gestational age at cell-free DNA testing was 12.3 weeks. In total, 81% of the twins were dichorionic. The median fetal fraction was 12.4%. Trisomy 21 was detected in 41 of 42 pregnancies, yielding a detection rate of 97.6% (95% confidence interval, 83.8-99.7). There was 1 false negative and no false positive cases. Trisomy 21 was detected in 38 out of 39 dichorionic twin pregnancies, yielding a detection rate of 97.4% (95% confidence interval, 82.6-99.7). Trisomy 18 was detected in 10 of the 10 affected pregnancies. There was 1 false positive case. Trisomy 13 was detected in 4 of the 5 cases, yielding a detection rate of 80% (95% confidence interval, 11.1-99.2). There was one false negative and no false positive cases. The nonreportable rate was low at 3.9 %. CONCLUSION: Cell-free DNA testing is effective in screening for trisomy 21 in twin gestations from the first trimester of pregnancy. Detection of trisomy 21 was high in dichorionic and monochorionic twins, and the nonreportable result rates were low. This study included high numbers of cases of trisomy 18 and 13 when compared with the current literature. Although screening for these conditions in twins seems to be promising, the numbers were too small to make definitive conclusions regarding the screening efficacy for these conditions. It is possible that cell-free DNA testing performance may differ among laboratories and vary with screening methodologies.

Navigation of Prenatal Care With Sex Discordance Between Cell-free DNA and Ultrasound Findings.

The utilization of cell-free DNA (cfDNA) screening has expanded rapidly across the age spectrum of pregnant persons. With cfDNA's widespread adoption, genetic fetal sex is now often known before a phenotypic assessment on anatomic survey. CfDNA detects sex discordance in 1/1500 to 2000 pregnancies. Upon detection of sex discordance, lab error or other factors should first be assessed. Once other causes have been ruled out, this may indicate an underlying disorder/difference in sex development. A multidisciplinary team should coordinate diagnosis, treatment, and support for the family. This review discusses the diagnostic workup, emphasizing the multidisciplinary counseling and management of disorder/differences in sex development.

Video education about genetic privacy and patient perspectives about sharing prenatal genetic data: a randomized trial.

BACKGROUND: Laboratories offering cell-free DNA often reserve the right to share prenatal genetic data for research or even commercial purposes, and obtain this permission on the patient consent form. Although it is known that nonpregnant patients are often reluctant to share their genetic data for research, pregnant patients' knowledge of, and opinions about, genetic data privacy are unknown. OBJECTIVE: We investigated whether pregnant patients who had already undergone cell-free DNA screening were aware that genetic data derived from cell-free DNA may be shared for research. Furthermore, we examined whether pregnant patients exposed to video education about the Genetic Information Nondiscrimination Act-a federal law that mandates workplace and health insurance protections against genetic discrimination-were more willing to share cell-free DNA-related genetic data for research than pregnant patients who were unexposed. STUDY DESIGN: In this randomized controlled trial (ClinicalTrials.gov Identifier: NCT04420858), English-speaking patients with singleton pregnancies who underwent cell-free DNA and subsequently presented at 17 0/7 to 23 6/7 weeks of gestation for a detailed anatomy scan were randomized 1:1 to a control or intervention group. Both groups viewed an infographic about cell-free DNA. In addition, the intervention group viewed an educational video about the Genetic Information Nondiscrimination Act. The primary outcomes were knowledge about, and willingness to share, prenatal genetic data from cell-free DNA by commercial laboratories for nonclinical purposes, such as research. The secondary outcomes included knowledge about existing genetic privacy laws, knowledge about the potential for reidentification of anonymized genetic data, and acceptability of various use and sharing scenarios for prenatal genetic data. Eighty-one participants per group were required for 80% power to detect an increase in willingness to share data from 60% to 80% (α=0.05). RESULTS: A total of 747 pregnant patients were screened, and 213 patients were deemed eligible and approached for potential study participation. Of these patients, 163 (76.5%) consented and were randomized; one participant discontinued the intervention, and two participants were excluded from analysis after the intervention when it was discovered that they did not fulfill all eligibility criteria. Overall, 160 (75.1%) of those approached were included in the final analysis. Most patients in the control group (72 [90.0%]) and intervention (76 [97.4%]) group were either unsure about or incorrectly thought that cell-free DNA companies could not share prenatal genetic data for research. Participants in the intervention group were more likely to incorrectly believe that their prenatal genetic data would not be shared for nonclinical purposes than participants in the control group (28.8% in the control group vs 46.2% in the intervention; P=.03). However, video education did not increase participant willingness to share genetic data in multiple scenarios. Non-White participants were less willing than White participants to allow sharing of genetic data specifically for academic research (P<.001). CONCLUSION: Most participants were unaware that their prenatal genetic data may be used for nonclinical purposes. Pregnant patients who were educated about the Genetic Information Nondiscrimination Act were not more willing to share genetic data than those who did not receive this education. Surprisingly, video education about the Genetic Information Nondiscrimination Act led patients to falsely believe that their data would not be shared for research, and participants who identified as racial minorities were less willing to share genetic data. New strategies are needed to improve pregnant patients' understanding of genetic privacy.

Privacy practices using genetic data from cell-free DNA aneuploidy screening.

PURPOSE: Cell-free fetal DNA (cfDNA) analyzes maternal and fetoplacental DNA, generating highly personal genetic information for both mother and fetus. This study aimed to determine how laboratories retain, use, and share genetic information from cfDNA. Other outcomes included laboratories' adherence to American Society of Human Genetics (ASHG) privacy principles, and the readability of privacy policies. METHODS: Laboratories offering cfDNA aneuploidy screening were identified from online searches, curated databases, and a genomics news website. Of 124 laboratories identified, 13 were commercial laboratories offering cfDNA aneuploidy screening in the United States, and were included. Genetic privacy policies from eligible laboratories were identified by reviewing requisition and consent forms, which were obtained online or by direct contact. RESULTS: Most laboratories use prenatal genetic information for research (n = 10, 77%), and more than half (n = 7, 54%) shared genetic information with others. Overall, laboratories inadequately disclosed privacy risks. In a readability analysis, 9 of 11 (82%) laboratories' genetic privacy policies were written at or above a 12th grade reading level. CONCLUSION: Most laboratories allowed for prolonged use and sharing of cfDNA data, demonstrated incomplete adherence to ASHG privacy recommendations, and provided consents written in college-level language. Laboratories should revise their consent forms, and providers should help patients understand these forms.

Type 2B von Willebrand Disease in Pregnancy: A Systematic Literature Review.

Our objective was to review the maternal characteristics and obstetric complications in women with type 2B von Willebrand disease (VWD). A systematic literature search was conducted using PubMed, Scopus, Cochrane Central Register of Controlled Trials, and ClinicalTrials.gov. We included all publications that addressed type 2B VWD in pregnancy. Our primary and secondary outcomes were incidence of postpartum hemorrhage (PPH) and incidence of thrombocytopenia in pregnancy. Two reviewers independently identified eligible studies and abstracted data including maternal characteristics, hematologic characteristics, treatment, and delivery outcomes. Twenty studies met inclusion criteria. There were 27 women (32 pregnancies) with type 2B VWD. Primary PPH was reported in 9/20 women (45%) and secondary PPH was reported in 6/13 women (46%). Thrombocytopenia in pregnancy was present in 27/28 women (96%); 23/27 women (85%) had platelet count <100 × 109/L, mean 33.7 ± 22.7 × 109/L. Factor concentrate treatment was administered before delivery (n = 16) and postpartum (n = 18), some women received both. Seventeen deliveries required blood products postpartum with 13/17 (76%) platelet transfusions and 6/17 (35%) red blood cell transfusions. No maternal mortality was reported. Women with type 2B VWD have significant morbidity in pregnancy related to high incidence of severe thrombocytopenia and primary and secondary PPH.

Type 3 von Willebrand Disease in Pregnancy: A Systematic Literature Review.

OBJECTIVE: von Willebrand disease (VWD) is a hereditary bleeding disorder. Type 3 VWD is the most severe and rare phenotype that presents many challenges for management of pregnant women. The aim of this study was to review the maternal characteristics and complications in pregnant women with Type 3 VWD. STUDY DESIGN: A systematic literature search was performed to include all publications that address Type 3 VWD in pregnancy. RESULTS: Thirteen studies met the inclusion criteria. There were 28 pregnancies with Type 3 VWD in 17 women. All were diagnosed with Type 3 VWD prior to pregnancy. Concentrate treatment was administered before delivery for 19 pregnancies and postpartum for 26 pregnancies. Eight pregnancies required blood products postpartum. Primary postpartum hemorrhage (PPH) was reported in 48% (10/21) and secondary PPH was reported in 56% (5/9). Secondary PPH occurred between 7 and 22 days. No study reported hysterectomies, intensive care unit admissions, or maternal mortality. All 28 pregnancies resulted in 28 live births at term. CONCLUSION: Our review highlights the maternal outcomes in patients with Type 3 VWD and the different approaches in management during pregnancy and delivery. Despite prior knowledge of this bleeding disorder, PPH was still a significant complication.

Setting a research agenda for vascular Ehlers-Danlos syndrome using a patient and stakeholder engagement model.

OBJECTIVE: Vascular Ehlers-Danlos syndrome (vEDS) is a rare, syndromic, heritable condition with life-threatening complications that include aortic and arterial aneurysms, dissection, and rupture. This study describes the formation of the vEDS Research Collaborative and methods used for stakeholder engagement. METHODS: The vEDS Research Collaborative was established with an engagement award from the Patient-Centered Outcomes Research Institute to create a framework for a patient-researcher partnership. Between October 1, 2017, and September 30, 2018, the Collaborative used the Patient-Centered Outcomes Research Institute Engagement Rubric to conduct stakeholder engagement to develop a patient-centered research agenda. A modified Delphi technique was used to develop and to refine research topics and questions, gathering input from all stakeholders during three rounds of feedback. RESULTS: Four topic areas were deemed important: mental health and quality of life issues, creating a care team, a holistic approach to vEDS management (medical and surgical), and pregnancy management. An online survey to rank a list of 12 research questions in these topic areas in order of importance was disseminated. The questions were ranked in order of importance through an online survey (N = 197 responses). The survey showed a high degree of alignment in the top priorities among stakeholders. There was a high degree of interest in pragmatic clinical trials evaluating medical management options and health-related quality of life outcomes. CONCLUSIONS: The vEDS Research Collaborative has built a sustainable, coalition model of patient and stakeholder engagement, supported by the vEDS community, to identify a patient-centered, prioritized list of research questions. In articulating a shared vision for the future of vEDS research, the Collaborative has laid the groundwork for developing research protocols aligned with the highest priority questions for the individuals affected by this serious condition that can be translated into future clinical trials.

Cardiovascular and obstetrical outcomes among delivering patients with Marfan or Loeys-Dietz syndrome: a retrospective analysis by hospital delivery setting.

BACKGROUND: Pregnancy is a high-risk time for patients with Marfan syndrome or Loeys-Dietz syndrome because of the risk for cardiovascular complications, including the risk for aortic dissection. Little is known about the differences in obstetrical and cardiac outcomes based on delivery hospital setting (academic or academic-affiliated vs community medical centers). OBJECTIVE: This study aimed to evaluate the obstetrical and cardiac outcomes of patients with Marfan syndrome or Loeys-Dietz syndrome based on delivery hospital setting. STUDY DESIGN: This was a secondary analysis of a retrospective, observational cohort study of singleton pregnancies among patients with a diagnosis of Marfan syndrome or Loeys-Dietz syndrome from 1990 to 2016. Patients were identified through the Marfan Foundation, the Loeys-Dietz Syndrome Foundation, or the Cardiovascular Connective Tissue Clinic at Johns Hopkins Hospital. Data were obtained via self-reported obstetrical history and verified by review of medical records. Nonparametric analyses were performed using Fisher's exact tests and Wilcoxon rank-sum tests. RESULTS: A total of 273 deliveries among patients with Marfan syndrome or Loeys-Dietz syndrome were included in this analysis (Table 1). More patients who had a known diagnosis before delivery of either Marfan syndrome or Loeys-Dietz syndrome delivered at an academic hospital as opposed to a community hospital (78.6% vs 59.9%; P=.001). Patients with Marfan syndrome or Loeys-Dietz syndrome who delivered at academic centers were more likely to have an operative vaginal delivery than those who delivered at community centers (23.7% vs 8.6%; P=.002). When the indications for cesarean delivery were assessed, connective tissue disease was the primary indication for the mode of delivery at community centers when compared with academic centers (55.6% vs 43.5%; P=.02). There were higher rates of cesarean delivery for arrest of labor and/or malpresentation at community hospitals than at academic centers (23.6% vs 5.3%; P=.01). There were no differences between groups in terms of the method of anesthesia used for delivery. Among those with a known diagnosis of Marfan syndrome or Loeys-Dietz syndrome before delivery, there were increased operative vaginal delivery rates at academic hospitals than at community hospitals (27.2% vs 15.1%; P=.03) (Table 2). More patients with an aortic root measuring ≥4 cm before or after pregnancy delivered at academic centers as opposed to community centers (33.0% vs 10.2%; P=.01), but there were no significant differences in the median size of the aortic root during pregnancy or during the postpartum assessment between delivery locations. Cardiovascular complications were rare; 8 patients who delivered at academic centers and 7 patients who delivered at community centers had an aortic dissection either in pregnancy or the postpartum period (P=.79). CONCLUSION: Patients with Marfan syndrome or Loeys-Dietz syndrome and more severe aortic phenotypes were more likely to deliver at academic hospitals. Those who delivered at academic hospitals had higher rates of operative vaginal delivery. Despite lower frequencies of aortic root diameter >4.0 cm, those who delivered at community hospitals had higher rates of cesarean delivery for the indication of Marfan syndrome or Loeys-Dietz syndrome. Optimal delivery management of these patients requires further prospective research.

Clinical Applications of Fetal Cell-Free DNA: State of the Science.

Advances in technology have correlated with expanding prenatal genetic testing options for pregnant people. Leading medical organizations recommend cell-free DNA as the most sensitive screening test for trisomies 13, 18, and 21, as well as for fetal sex chromosome aneuploidies. The commercially available testing options go beyond these recommended tests, and prenatal care professionals should be familiar with the tests that their patients may choose despite being beyond the scope of current medical recommendations. This article explains updates in cell-free DNA technology and clinical considerations for prenatal care professionals, recognizing that this is a rapidly changing field of science and health care.

Emergency vascular surgical care in populations with unique physiologic characteristics: Pediatric, pregnant, and frail populations.

Vascular surgical emergencies are common in vascular surgical care and require complex decision making and multidisciplinary care. They are especially challenging when they occur in patients with unique physiological characteristics, such as pediatric, pregnant, and frail patients. Among the pediatric and pregnant population, vascular emergencies are rare. This rarity challenges accurate and timely diagnosis of the vascular emergency. This landscape review summarizes these three unique populations' epidemiology and emergency vascular considerations. Understanding the epidemiology is the foundation for accurate diagnosis and subsequent management. Considering each population's unique characteristics is crucial to the emergent vascular surgical interventions decision making. Collaborative and multidisciplinary care is vital in gaining expertise in managing these special populations and achieving optimal patient outcomes.

Obstetric considerations for aortopathy in pregnancy.

Aortic dissection (AD) associated with pregnancy can have catastrophic consequences for the mother and/or fetus. AD occurs in 4-5 per 1,000,000 pregnancies and, despite its rarity, is the third most frequent maternal cardiovascular cause of death. AD associated with pregnancy is most likely to occur in the third trimester or postpartum period. In individuals with genetic aortopathy, pregnancy is considered a high-risk time for AD. There are management strategies in the preconception, antepartum, delivery and postpartum periods to optimize patient care. A multi-disciplinary team that includes capability to perform cardiovascular surgery is critical. Imaging modalities including maternal echocardiogram and magnetic resonance imaging can be safely performed in pregnancy for surveillance of the aortic size. Computed tomography (CT) scan is reserved for scenarios where there is a high index of suspicion for AD in a pregnant person to limit fetal exposure to radiation. After counseling about the potential risks of a pregnancy, the decision to pursue pregnancy is ultimately at the discretion of the individual. The duty of the cardio-obstetric team is to ensure that the patient and their family understand the risks of a pregnancy and the plan of care.

Examining Outcomes for Nulliparous, at Term, Singleton and Vertex Deliveries During the First Wave of the COVID-19 Pandemic in Rhode Island.

BACKGROUND: During the initial wave of the COVID-19, there was uncertainty related to whether the pandemic would affect pregnancy delivery outcomes. We sought to identify whether changes in hospital policies and provider practices, driven by COVID-19, would influence delivery outcomes in nulliparous, term, singleton, vertex (NTSV) pregnancies in Rhode Island. OBJECTIVE: We compare the delivery outcomes and associated factors for NTSV deliveries during the first wave of the COVID-19 pandemic in Rhode Island compared to patients who delivered the year prior. STUDY DESIGN: This is a retrospective cohort study of patients who presented to Women & Infants Hospital for NTSV deliveries during April 2019, pre-COVID-19, and April 2020, during COVID-19. RESULTS: During COVID-19, patients were more likely to have abnormal electronic fetal monitoring (AEFM) as an indication for cesarean section (p<.02) and less likely to have an elective cesarean delivery (p<.01). Patients during COVID-19 were more likely to have a midwife involved in their care compared to pre-COVID-19 (p<.001). The cesarean section rate was not statistically different between the two time periods. CONCLUSION: Those delivering during the pandemic were more likely to have AEFM as an indication for cesarean delivery and less likely to have elective cesareans. They were more likely to have a midwife involved in their care. Further investigation into factors associated with changes in NTSV cesarean rates is warranted.

A presentation of adenovirus with hypokalemia and rhabdomyolysis in pregnancy.

Background: Adenovirus infection is usually mild in presentation. However during pregnancy, the course can be more severe. Case: A 21-year-old woman in her second pregnancy presented with abdominal pain, vomiting, and fevers at 34 weeks and 4 days of gestation. Her respiratory pathogen panel on nasopharyngeal secretions was positive for adenovirus. Electrolytes were notable for hypomagnesaemia and persistent hypokalemia (nadir of 2.6 mmol/L) despite repletion but otherwise unremarkable. During her course, she developed rhabdomyolysis. During routine fetal monitoring at 35 weeks and 6 days of gestation, prolonged fetal bradycardia was identified, and an emergency caesarean delivery was performed. The infant had no clinical or laboratory evidence of adenovirus infection. The patient had a protracted clinical course but recovered with supportive care. Conclusion: Adenovirus can present with severe complications in a pregnant woman including hypokalemia and rhabdomyolysis. The mainstay of treatment is supportive care and monitoring of electrolyte abnormalities and renal function.

Retroperitoneal leiomyoma: a case report.

BACKGROUND: Retroperitoneal leiomyomata are rare neoplasms. These masses can be asymptomatic or can cause pelvic discomfort, urinary frequency, abdominal fullness or back pain. CASE: A 28-year-old, nulliparous female presented with worsening dysmenorrhea and bulk symptoms from fibroids. MRI revealed an exophytic anterior lower uterine segment fibroid with internal degeneration. During surgery the fibroid was discovered to be retroperitoneal in location, contrary to preoperative imaging findings. Pathology confirmed a benign leiomyoma. CONCLUSION: The treatment for these masses is complete excision. The retroperitoneal location of this fibroid was not evident on preoperative ultrasound and MRI. Imaging can be used only as a guide for operative planning and does not always represent the anatomy accurately. Surgical excision is required, and only at surgery will the exact anatomical location of the fibroid be ascertained.

Privacy Risks in Prenatal Aneuploidy and Carrier Screening: What Obstetricians and Their Patients Need to Know.

Modern prenatal genetic screening techniques such as cell-free fetal DNA and expanded carrier screening genotype substantial amounts of maternal and fetoplacental DNA. Although DNA can be deidentified by stripping protected health information from genetic data, anonymized DNA can be reidentified using genetic databases, raising long-term genetic privacy concerns for both mother and fetus. In this commentary, we explore the evolution of prenatal genetic screening and how modern screening techniques may pose unanticipated privacy risks. We highlight knowledge gaps and outline steps to improve patient awareness of and control over their genetic privacy, including specific recommendations for laboratories and prenatal care practitioners who offer screening. We also encourage our colleagues who provide prenatal care to be well informed about the privacy implications of the genetic tests we order and to be vocal advocates for our patients' genetic privacy, both with the laboratories that perform these tests and in the public sphere.

Obstetric Management of Loeys-Dietz Syndrome.

BACKGROUND: Loeys-Dietz syndrome is associated with arterial tortuosity and aortic dissection. Pregnancy may be a period of increased risk for aortic dissection. CASE: A 16-year-old primigravid girl was referred to our center with a family history of aortic dissection. Loeys-Dietz syndrome was suspected, and genetic testing confirmed the TGFß2 (c.988C>T) mutation. A cesarean delivery was performed at 36 weeks of gestation, with no cardiovascular complications. In this case, the uterine vessels were significantly tortuous; this may be an additional finding in Loeys-Dietz syndrome. CONCLUSION: Women with Loeys-Dietz syndrome warrant special consideration in obstetric management secondary to the risk for aortic dissection. It is recommended that a multidisciplinary team with knowledge about connective tissue disorders and expertise in aortic surgery coordinate maternal obstetric and cardiovascular care.