Prenatal diagnosis of bilateral anophthalmia: Identifying de novo SOX2 variant.

A 26 year old nulligravida presented at 24 weeks gestation for the second opinion of abnormal fetal profile and mid-face views on ultrasound at another institution. A detailed fetal anatomic ultrasound at our facility revealed the absence of fetal lens and globes bilaterally consistent with bilateral anophthalmia (HP: 0000528) without other anomalies. Karyotype and chromosomal microarray analysis were completed from amniocentesis sample. After these results, duo exome testing with paternal sequencing was completed from proband amniotic fluid sample and parental blood samples. A pathogenic variant in SOX2 (NM_003106.3: c.513C>G p.(Tyr171*Ter)) with heterozygous autosomal dominant inheritance resulted. On duo exome testing with paternal segregation analysis, the variant was found to be consistent with likely sporadic de novo inheritance. The SOX2 variant reported is consistent with the fetal phenotype in this case. While germline mosaicism could exist, this identified variant provided the family with a likely explanation for this proband's finding. This ultrasound and genetic testing allowed the family to make decisions related to planning in current and future pregnancies.

Use of cervical elastography at 18 to 22 weeks' gestation in the prediction of spontaneous preterm birth.

BACKGROUND: Accurate identification of the women who will have spontaneous preterm birth continues to be a great challenge. The use of cervical elastography for prediction of preterm birth is promising, but several limitations exist. Newer cervical elastography technology has been developed that may prove useful in evaluation of risk of preterm birth. OBJECTIVE: This study aimed to develop standard cervical elastography nomograms for singleton pregnancies at 18 to 22 weeks' gestation using the E-Cervix ultrasound application, assess intraobserver reliability of the E-Cervix elastography parameters, and determine whether these cervical elastography measurements can be used in the prediction of spontaneous preterm birth. STUDY DESIGN: This was a prospective cohort study of pregnant women undergoing cervical length screening assessment via transvaginal ultrasound examination at 18 to 22 weeks' gestation. A semiautomatic, cervical elastography application (E-Cervix) was used during the transvaginal examination to calculate 5 quantitative parameters (internal os stiffness, external os stiffness, internal -to -external os stiffness ratio, hardness ratio, and elasticity contrast index) and create a standard nomogram for each one of them. The intraobserver reliability was calculated using Shrout-Fleiss reliability. Cervical elastography parameters were compared between those who delivered preterm (<37 weeks) spontaneously and those who delivered full term. A multivariable logistic regression model was performed to determine the ability of the cervical elastography parameters to predict spontaneous preterm birth. RESULTS: A total of 742 women were included, of which 49 (6.6%) had a spontaneous preterm delivery. A standard nomogram was created for each of the cervical elastography parameters from those who had a full-term birth in the index pregnancy (n=693). Intraobserver reliability was good or excellent (intraclass correlation, 0.757-0.887) for each of the cervical elastography parameters except external os stiffness which was poor (intraclass correlation, 0.441). In univariate analysis, none of the cervical elastography parameters were associated with a statistically significant increased risk of spontaneous preterm birth. In a multivariable model adjusting for history of preterm birth, gravidity, ethnicity, cervical cerclage, and vaginal progesterone use, increasing elasticity contrast index was significantly associated with an increased risk of spontaneous preterm birth (odds ratio, 1.15; 95% confidence interval, 1.02-1.30; P=.02). CONCLUSION: Cervical elastography parameters are reliably measured and are stable across 18 to 22 weeks' gestation. Based on our findings, the elasticity contrast index was associated with an increased risk of spontaneous preterm birth and may be a useful parameter for future research.

Coronavirus disease 2019 infection and placental histopathology in women delivering at term.

BACKGROUND: There is a paucity of data describing the effects of coronavirus disease 2019 on placental pathology, especially in asymptomatic patients. Although the pathophysiology of coronavirus disease 2019 is not completely understood, there is emerging evidence that it causes a severe systemic inflammatory response and results in a hypercoagulable state with widespread microthrombi. We hypothesized that it is plausible that a similar disease process may occur in the fetal-maternal unit. OBJECTIVE: This study aimed to determine whether coronavirus disease 2019 in term patients admitted to labor and delivery, including women without coronavirus disease 2019 symptomatology, is associated with increased placental injury compared with a cohort of coronavirus disease 2019-negative controls. STUDY DESIGN: This was a retrospective cohort study performed at NYU Winthrop Hospital between March 31, 2020, and June 17, 2020. During the study period, all women admitted to labor and delivery were routinely tested for severe acute respiratory syndrome coronavirus 2 regardless of symptomatology. The placental histopathologic findings of patients with coronavirus disease 2019 (n=77) who delivered a singleton gestation at term were compared with a control group of term patients without coronavirus disease 2019 (n=56). Controls were excluded if they had obstetrical or medical complications including fetal growth restriction, oligohydramnios, hypertension, diabetes, coagulopathy, or thrombophilia. Multivariable logistic regression models were performed for variables that were significant (P<.05) in univariable analyses. A subgroup analysis was also performed comparing asymptomatic coronavirus disease 2019 cases with negative controls. RESULTS: In univariable analyses, coronavirus disease 2019 cases were more likely to have evidence of fetal vascular malperfusion, that is, presence of avascular villi and mural fibrin deposition (32.5% [25/77] vs 3.6% [2/56], P<.0001) and villitis of unknown etiology (20.8% [16/77] vs 7.1% [4/56], P=.030). These findings persisted in a subgroup analysis of asymptomatic coronavirus disease 2019 cases compared with coronavirus disease 2019-negative controls. In a multivariable model adjusting for maternal age, race and ethnicity, mode of delivery, preeclampsia, fetal growth restriction, and oligohydramnios, the frequency of fetal vascular malperfusion abnormalities remained significantly higher in the coronavirus disease 2019 group (odds ratio, 12.63; 95% confidence interval, 2.40-66.40). Although the frequency of villitis of unknown etiology was more than double in coronavirus disease 2019 cases compared with controls, this did not reach statistical significance in a similar multivariable model (odds ratio, 2.11; 95% confidence interval, 0.50-8.97). All neonates of mothers with coronavirus disease 2019 tested negative for severe acute respiratory syndrome coronavirus 2 by polymerase chain reaction. CONCLUSION: Despite the fact that all neonates born to mothers with coronavirus disease 2019 were negative for severe acute respiratory syndrome coronavirus 2 by polymerase chain reaction, we found that coronavirus disease 2019 in term patients admitted to labor and delivery is associated with increased rates of placental histopathologic abnormalities, particularly fetal vascular malperfusion and villitis of unknown etiology. These findings seem to occur even among asymptomatic term patients.

Community Health Workers, Access to Care, and Service Utilization Among Florida Latinos: A Randomized Controlled Trial.

OBJECTIVES: To determine whether a 1-year community health worker intervention improves access to care and service utilization among Latinos with diabetes. METHODS: We conducted a single-blind randomized trial of 300 adults with poorly controlled diabetes treated in 2 public hospital clinics in Miami, Florida. We began enrollment in 2010 and completed follow-up in 2015. We examined access and utilization using self-reported measures and data from electronic medical records. RESULTS: Participants randomized to the community health worker intervention self-reported fewer problems accessing needed care and prescriptions than did those in the usual care group (30% vs 43% and 28% vs 41%, respectively; P < .05 for both). Adjusting for age, gender, education, depression, and comorbidities showed similar results (odds ratio [OR] = 0.52; 95% confidence interval [CI] = 0.29, 0.93 and OR = 0.45; CI = 0.24, 0.82, respectively). We found no significant utilization differences in primary care visits, emergency department utilization, or hospitalization between the 2 groups. CONCLUSIONS: Among Latinos with poorly controlled diabetes, a 1-year community health worker intervention was associated with improvements in self-reported access to care but not service utilization.

Postpartum Contraceptive Use and Other Reproductive Health Outcomes Among CenteringPregnancy Group Prenatal Care Participants.

Background: CenteringPregnancy® is a model of group prenatal care (PNC) that reduces preterm birth and increases patient satisfaction. Less is known about postpartum outcomes. Methods: This study aimed to evaluate whether CenteringPregnancy participants have more favorable postpartum reproductive health outcomes compared with traditional PNC participants. Our primary outcome was utilization of long-acting reversible contraception (LARC). As secondary outcomes, we examined breastfeeding at the postpartum visit, follow-up at the postpartum visit, and rapid repeat pregnancy. We conducted a retrospective cohort study of 422 women who received PNC and delivered at tertiary care hospital in Atlanta, Georgia between 2011 and 2015. Participants were eligible to participate if they were enrolled in Medicaid and received at least three PNC visits with a Certified Nurse Midwife in either CenteringPregnancy (n = 248) or traditional PNC (n = 174). Demographic and clinical data were abstracted from the electronic medical record. Multivariable log binomial regression was used to compare CenteringPregnancy participants and women who received traditional PNC. Results: One quarter of women (26%) chose LARC for postpartum contraception. There was no difference in overall contraceptive uptake between CenteringPregnancy and traditional PNC groups. CenteringPregnancy participants were 70% more likely to use LARC postpartum compared with women receiving traditional PNC (adjusted relative risk [aRR] 1.76; p < 0.01). CenteringPregnancy participants were significantly more likely to initiate breastfeeding before hospital discharge (aRR 1.14, p = 0.01) and to report exclusive breastfeeding at the postpartum visit (relative risk [RR] 2.54; p < 0.01). Women in the CenteringPregnancy group were marginally more likely to report any breastfeeding at the postpartum visit and to attend the postpartum visit (RR 1.31, p = 0.05 and RR 1.17, p = 0.05 respectively), but were no less likely to have a rapid repeat pregnancy (RR 0.90, p = 0.57). Conclusion: Women in CenteringPregnancy groups had increased uptake of LARC compared with a similar cohort of women in traditional PNC. Other potential benefits of CenteringPregnancy, including breastfeeding and attendance at the postpartum visit require further study.

Interval growth across gestation in pregnancies with fetal gastroschisis.

BACKGROUND: Gastroschisis is often complicated by fetal growth restriction, preterm delivery, and prolonged neonatal hospitalization. Prenatal management and delivery decisions are often based on estimated fetal weight and interval growth; however, appropriate interval growth from week to week across gestation for these fetuses is poorly understood. OBJECTIVE: This study aimed to determine the median increase in overall estimated fetal weight and individual biometric measurements across each week of gestation in pregnancies with fetal gastroschisis and to assess whether lower in utero fetal weight gain is predictive of postnatal growth or adverse neonatal outcomes. STUDY DESIGN: This was a retrospective cohort study of pregnancies with gastroschisis evaluated at 5 institutions of the University of California Fetal-Maternal Consortium from December 2014 to December 2019. The inclusion criteria were prenatally diagnosed gastroschisis with at least 1 ultrasound performed at a University of California Fetal-Maternal Consortium institution. Estimated fetal weight and individual biometric measurements were recorded for each ultrasound performed at a University of California Fetal-Maternal Consortium institution from the time of gastroschisis diagnosis to delivery. Median estimated fetal weight and biometric measurements were calculated for each gestational age in 1-week increments. Neonatal outcomes collected were birthweight, length of stay, complications of gastroschisis (bowel atresia, bowel stricture, ischemic bowel before closure, or severe pulmonary hypoplasia), and growth failure at discharge. RESULTS: We identified 95 pregnancies with fetal gastroschisis who, in aggregate, had 360 growth ultrasounds at a University of California Fetal-Maternal Consortium institution. The median interval growth was 130 g/wk. The median estimated fetal weight and abdominal circumference in fetal gastroschisis cases were approximately the tenth percentile on the Hadlock growth curve across gestation. Moreover, the median biparietal diameter, head circumference, and femur length measurements remained below the 50th percentile on the Hadlock growth curve across gestation. The median birthweight for neonates with less than the median weekly prenatal weight gain was less than for those with greater than the median weekly prenatal weight gain (2185 g vs 2780 g; P<.01). There was no difference in prenatal weight gain trajectory when comparing neonates who had or did not have bowel complications of gastroschisis. CONCLUSION: In this multicenter cohort of pregnancies with fetal gastroschisis, the median interval growth was 130 g/wk, and overall, in utero growth closely followed the tenth percentile on the Hadlock curve. Poor prenatal growth in cases of fetal gastroschisis correlates with lower neonatal weights but did not predict a more complicated course.

Application of telemedicine video visits in a maternal-fetal medicine practice at the epicenter of the COVID-19 pandemic.

BACKGROUND: Telemedicine in obstetrics has mostly been described in the rural areas that have limited access to subspecialties. During the COVID-19 pandemic, health systems rapidly expanded telemedicine services for urgent and nonurgent healthcare delivery, even in urban settings. The New York University health system implemented a prompt systemwide expansion of video-enabled telemedicine visits, increasing telemedicine to >8000 visits daily within 6 weeks of the beginning of the pandemic. There are limited studies that explore patient and provider satisfaction of telemedicine visits in obstetrical patients during the COVID-19 epidemic, particularly in the United States. OBJECTIVE: This study aimed to evaluate both the patients' and the providers' satisfaction with the administration of maternal-fetal medicine services through telemedicine and to identify the factors that drive the patients' desire for future obstetrical telemedicine services. STUDY DESIGN: A cross-sectional survey was administered to patients who completed a telemedicine video visit with the Division of Maternal-Fetal Medicine at the New York University Langone Hospital-Long Island from March 19, 2020, to May 26, 2020. A 10-question survey assessing the patients' digital experience and desire for future use was either administered by telephone or self-administered by the patients via a link after obtaining verbal consent. The survey responses were scored from 1-strongly disagree to 5-strongly agree. We analyzed the demographics and survey responses of the patients who agreed to vs those who answered neutral or disagree to the question "I would like telehealth to be an option for future obstetric visits." The providers also answered a similar 10-question survey. The median scores were compared using appropriate tests. A P value of <.05 was considered significant. RESULTS: A total of 253 patients participated in 433 telemedicine visits, and 165 patients completed the survey, resulting in a 65% survey response rate. Overall, there were high rates of patient satisfaction in all areas assessed. Those who desired future telemedicine had significantly greater agreeability that they were able to see and hear their provider easily (5 [4.5, 5] vs 5 [4, 5]; P=.014) and that the lack of physical activity was not an issue (5 [4, 5] vs 5 [4, 5]; P=.032). They were also more likely to agree that the telemedicine visits were as good as in-person visits (4 [3, 5] vs 3 [2, 3]; P<.001) and that telehealth made it easier for them to see doctors or specialists (5 [4, 5] vs 3 [2, 3]; P<.001). The patients seeking consults for poor obstetrical history were more likely to desire future telemedicine compared with other visit types (19 (90%) vs 2 (10%); P=.05). Provider survey responses also demonstrated high levels of satisfaction, with 83% agreeing that they would like telemedicine to be an option for future obstetrical visits. CONCLUSION: We demonstrated that maternal-fetal medicine obstetrical patients and providers were highly satisfied with the implementation of telemedicine during the initial wave of the COVID-19 pandemic and a majority of them desire telemedicine as an option for future visits. A patient's desire for future telemedicine visits was significantly affected by their digital experience, the perception of a lack of need for physical contact, perceived time saved on travel, and access to healthcare providers. Health systems need to continue to improve healthcare delivery and invest in innovative solutions to conduct physical examinations remotely.

Rupture of a Type B Aortic Dissection in a Postpartum Patient with Marfan Syndrome.

Background Pregnant women with Marfan syndrome (MFS) are known to be at increased risk of aortic dissection; however, cases of aortic rupture are extremely rare. There is lack of consensus on the exact site and size of aortic diameter measurement that increases this risk, and whether this applies to both Type A and Type B dissections. Case A 23-year-old G2P1001 with known Marfan syndrome who underwent an uncomplicated antepartum and intrapartum course. She experienced persistent backache 10 days postpartum that led to the diagnosis of Stanford Type B dissection. The patient was hospitalized for close observation. Dissection progressed to aortic rupture within 24 hours that required emergent thoracic endovascular aortic repair. She had an uncomplicated postoperative course. Conclusion Our report demonstrates rupture of a known aortic dissection within a very short time in the postpartum period. The case highlights the importance of patient education and close surveillance especially in the postpartum period. It also brings home the value of imaging of the whole aorta rather than focusing on the ascending alone. Multidisciplinary care and timely diagnosis and intervention likely led to the favorable outcome in our case.

Talcum Powder Toxicosis in Pregnancy.

Background Pica is a relatively common phenomenon in pregnancy and typically includes consumption of nontoxic substances such as earth/clay, raw starches, and ice. Occasionally, substances may be toxic or have unintended consequences. Case A nulliparous woman presented to our facility complaining of numerous, vague symptoms that are common in pregnancy. She had multiple work-ups and an admission to our antepartum unit without clear etiology of her symptoms. Ultimately, she was diagnosed with talcum powder toxicosis secondary to talc ingestion as a coping mechanism for her anxiety, which was heightened in pregnancy. Conclusion This case highlights the importance of screening for mental health disorders, which may be exacerbated during the peripartum period. Patients' coping mechanisms for mental health disorders may have unintended consequences.

Epidemiological, Clinical, and Histopathological Features of Breast Cancer in Haiti.

PURPOSE: Little is known about the epidemiology of breast cancer in developing countries, and Haiti has perhaps the least data of any country in the Western Hemisphere. METHODS: We conducted a retrospective review of all patients enrolled in an ongoing breast cancer treatment program in Port-au-Prince, Haiti, from July 1, 2013, through June 30, 2017. Data were drawn from each patient's electronic medical record, paper chart, and biopsy results. RESULTS: The records of 525 women with breast cancer were reviewed for this study. The median age at presentation was 49 years (n = 507). The risk factors observed were as follows: postmenopausal, 50.8% (n = 354); nulliparity, 15.7% (n = 338); hormonal contraception use, 35.0% (n = 309); never breastfed, 20.6% (n = 316); family history of any cancer, 22.0% (n = 295); overweight, 51.5% (n = 332); and smoking, 5.0% (n = 338). Of all those staged, 83.9% (n = 447) of the patients presented with stage III/IV disease and more than half delayed care for > 12 months after first noticing a breast mass. For the subset of tumors for which estrogen receptor (ER; n = 245) and human epidermal growth factor receptor 2 (HER2; n = 179) status was available, the prevalence of ER-positive tumors was 51.8%, of HER2-positive tumors was 19.6%, and of triple-negative tumors was 38.5%. The 12-month mortality rate (n = 425) was 18.4% overall and 27.5% for those who presented with stage IV disease. Median survival was not reached. CONCLUSION: Breast cancer in Haiti presents at an early age and advanced stage. Triple-negative, ER-negative, and high-grade tumors are common. Delays in seeking care and incomplete treatment likely contribute to the high mortality rate; however, as in black women in the United States, the distribution of tumor types may contribute to disparate outcomes.

Development of a Breast Cancer Treatment Program in Port-au-Prince, Haiti: Experiences From the Field.

PURPOSE: The nonprofit Project Medishare launched a breast cancer treatment program in Port-au-Prince in July 2013 to address the demand for breast cancer care in Haiti. We outline the development of the program, highlight specific challenges, and discuss key considerations for others working in global oncology. METHODS: We reflected on our experiences in the key areas of developing partnerships, building laboratory capacity, conducting medical training, using treatment algorithms, and ensuring access to safe, low-cost chemotherapy drugs. We also critically reviewed our costs and quality measures. RESULTS: The program has treated a total of 139 patients with breast cancer with strong adherence to treatment regimens in 85% of patients. In 273 chemotherapy administrations, no serious exposure or adverse safety events were reported by staff. The mortality rate for 94 patients for whom we have complete data was 24% with a median survival time of 53 months. Our outcome data were likely influenced by stage at presentation, with more than half of patients presenting more than 12 months after first noticing a tumor. Future efforts will therefore focus on continuing to improve the level of care, while working with local partners to spread awareness, increase screening, and get more women into care earlier in the course of their disease. CONCLUSION: Our experiences may inform others working to implement protocol-based cancer treatment programs in resource-poor settings and can provide valuable lessons learned for future global oncology efforts.

Rationale and design of the Miami Healthy Heart Initiative: a randomized controlled study of a community health worker intervention among Latino patients with poorly controlled diabetes.

BACKGROUND: Type 2 diabetes mellitus disproportionately affects the Latino community. Latinos with diabetes are also less likely to have adequate control of cardiovascular risk factors such as cholesterol and blood pressure. Community health workers (CHWs) are increasingly being used to address various health disparity conditions, including diabetes. However, evidence of their effectiveness from randomized controlled trials is limited. METHODS: The Miami Health Heart Initiative is a randomized controlled trial of 300 Latino patients with diabetes. Patients with hemoglobin A1c (HbA1c) ≥8.0% were recruited from Miami-Dade's public hospital system. At baseline, all patients underwent phlebotomy, physical examination, and a structured 90-minute research interview. They were then randomized to either usual care or a CHW intervention called Cariño. For participants in the Cariño arm of the study, CHW services included assistance with nonmedical social services, health education, and patient navigation in which the CHWs serve as a bridge between patients and the health care system. These services were delivered through home visits, phone calls, and group visits. At 12 months, all subjects had a follow-up examination. The primary outcomes at 1 year are changes in systolic blood pressure, low-density lipoprotein, and HbA1c. Secondary outcomes include medication adherence, medication intensification, diabetes self-efficacy, physical activity, and self-reported fruit and vegetable intake. DISCUSSION: The Miami Healthy Heart Initiative is one of the first rigorously conducted randomized controlled trials to provide evidence on the impact of CHWs on diabetes intermediate outcomes among Latinos. If the data support our primary hypotheses, the study would lend added support to ongoing efforts to incorporate CHWs as part of our national efforts to reduce and ultimately eliminate health disparities.