Search

Objective We conducted a study to examine the impact of COVID on patients' access and utilization of prenatal genetic screens and diagnostic tests at the onset of the COVID‐19 pandemic in the United States. Methods We conducted telephone interviews with 40 patients to examine how the pandemic affected prenatal genetic screening and diagnostic testing decisions during the initial months of the pandemic in the United States. An interview guide queried experiences with the ability to access information about prenatal genetic testing options and to utilize the tests when desired. Audio recordings were transcribed and coded using NVivo 12. Analysis was conducted using Grounded Theory. Results The pandemic did not alter most participants' decisions to undergo prenatal genetic testing. Yet, it did impact how participants viewed the risks and benefits of testing and timing of testing. There was heightened anxiety among those who underwent testing, stemming from the risk of viral exposure and the fear of being alone if pregnancy loss or fetal abnormality was identified at the time of an ultrasound‐based procedure. Conclusion The pandemic may impact patients' access and utilization of prenatal genetic tests. More research is needed to determine how best to meet pregnant patients' decision‐making needs during this time., Key Points What is already known about this topic? Prenatal genetic screens and diagnostic tests are a core component to the delivery of high‐quality, evidence‐based prenatal care.It is critical that pregnant patients have the information and resources to make an informed decision about a growing array of prenatal genetic screening and diagnostic testing options.In the decision‐making process, pregnant patients commonly weigh the risks and benefits of gaining genetic information about the fetus with the risks and benefits of the available screens and diagnostic tests. What does this study add? The pandemic has led to significant changes in healthcare delivery and insurance benefits for prenatal genetic testing, raising key questions about how pregnant patient are weighing the risks and benefits of the available prenatal genetic screening and diagnostic testing options against the risks of COVID exposure by presenting to a healthcare facility for testing.COVID‐19 appears to impact how women view the utility of prenatal genetic testing, including how they weigh the risk and benefits of prenatal genetic screening and diagnostic testing in addition to when in the pregnancy they may elect to undergo testing.The COVID‐19 pandemic has resulted in increased levels of concern and anxiety that may be encountered by pregnant women in the testing process, raising awareness of the need for additional resources to support patients' decision‐making during the pandemic.

Background Prenatal genetic screens, including carrier screening (CS) and aneuploidy screening (AS), comprise an important component of reproductive healthcare delivery. Clinical practice guidelines emphasize the importance of informed decision-making and patient’s preferences regarding the use of these screens. Yet, it is unclear how to achieve this ideal as prenatal genetic screening options rapidly become more complex and increasingly available to patients. With increased complexity and availability of reproductive testing options, decision-support strategies are critical to prepare patients to consider AS and/or CS. Methods A self-administered survey evaluated knowledge and decision-making preferences for expanded carrier (CS) and aneuploidy (AS) prenatal screening. The survey was administered to participants before their first prenatal visit to assess baseline decision-making needs and preference at the initiation of prenatal care. Analysis was approached as a descriptive process. Results Participants had similar familiarity with the concepts associated with AS compared to CS; mean knowledge scores for CS was 0.59 [possible range 0.00 to 1.00] and 0.55 for AS. Participants reported preferences to learn about a range of conditions, including those with severe or mild impact, childhood-onset, and adult-onset. Decision-making preference with respect to learning about the associated disease phenotypes for the contained on AS and CS panel shifted with the complexity of the panel, with a greater preference to learn about conditions post-test compared pre-test education as panels increased from 5 to 100 conditions. Conclusion Patients’ baseline knowledge of prenatal genetic screens coupled with evolving decision-making preferences presents challenges for the delivery of prenatal genetic screens. This calls for the development and implementation of innovative approaches to support pregnant patients’ decision-making commensurate with advances in prenatal genomics.

PURPOSE: To provide a comprehensive review of uterus transplantation in 2021, including a discussion of pregnancy outcomes of all reported births to date, the donor and recipient selection process, the organ procurement and transplant surgeries, reported complications, postoperative monitoring, preimplantation preparation, and ethical considerations. METHODS: Literature review and expert commentary. RESULTS: Reports of thirty-one live births following uterus transplantation have been published from both living and deceased donors. The proper selection of donors and recipients is a labor-intensive process that requires advanced planning. A multidisciplinary team is critical. Reported complications in the recipient include thrombosis, infection, vaginal stricture, antenatal complications, and graft failure. Graft rejection is a common occurrence but rarely leads to graft removal. While most embryo transfers are successful, recurrent implantation failures in uterus transplant patients have been reported. Rates of preterm delivery are high but appear to be declining; more data, including long-term outcome data, is needed. CONCLUSIONS: Uterus transplantation is an emerging therapy for absolute uterine factor infertility, a condition previously without direct treatment options. It is paramount that reproductive health care providers are familiar with the uterus transplantation process as more patients seek and receive this treatment. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s10815-021-02245-7.

Background Preeclampsia increases the risk of heart disease. Defects in the protease corin, including the variant T555I/Q568P found in approximately 12% of blacks, have been associated with preeclampsia and cardiac hypertrophy. The objective of this study was to investigate the role of corin and the T555I/Q568P variant in preeclampsia-associated cardiac alterations using genetically modified mouse models. Methods Virgin wild-type (WT) and corin knockout mice with or without a cardiac WT corin or T555I/Q568P variant transgene were mated at 3 or 6 months of age. Age- and genotype-matched virgin mice were used as controls. Cardiac morphology and function were assessed at gestational day 18.5 or 28 days postpartum by histologic and echocardiographic analyses. Results Pregnant corin knockout mice at gestational day 18.5 developed cardiac hypertrophy. Such a pregnancy-associated phenotype was not found in WT or corin knockout mice with a cardiac WT corin transgene. Pregnant corin knockout mice with a cardiac T555I/Q568P variant transgene developed cardiac hypertrophy similar to that in pregnant corin knockout mice. The cardiac hypertrophy persisted postpartum in corin knockout mice and was worse if the mice were mated at 6 instead of 3 months of age. There was no hypertrophy-associated decrease in cardiac function in pregnant corin knockout mice. Conclusions In mice, corin deficiency causes cardiac hypertrophy during pregnancy. Replacement of cardiac WT corin, but not the T555I/Q568P variant found in blacks, rescues this phenotype, indicating a local antihypertrophic function of corin in the heart. Corin deficiency may represent an underlying mechanism in preeclampsia-associated cardiomyopathies.

Uterus transplantation is the only known potential treatment for absolute uterine factor infertility. It offers a unique setting for the investigation of immunologic adaptations of pregnancy in the context of the pharmacologic-induced tolerance of solid organ transplants, thus providing valuable insights into the early maternal-fetal interface. Until recently, all live births resulting from uterus transplantation involved living donors, with only 1 prior birth from a deceased donor. The Cleveland Clinic clinical trial of uterus transplantation opened in 2015. In 2017, a 35 year old woman with congenital absence of the uterus was matched to a 24 year old parous deceased brain-dead donor. Transplantation of the uterus was performed with vaginal anastomosis and vascular anastomoses bilaterally from internal iliac vessels of the donor to the external iliac vessels of the recipient. Induction and maintenance immunosuppression were achieved and subsequently modified in anticipation of pregnancy 6 months after transplant. Prior to planned embryo transfer, ectocervical biopsy revealed ulceration and a significant diffuse, plasma cell-rich mixed inflammatory cell infiltrate, with histology interpreted as grade 3 rejection suspicious for an antibody-mediated component. Aggressive immunosuppressive regimen targeting both cellular and humoral rejection was initiated. After 3 months of treatment, there was no histologic evidence of rejection, and after 3 months from complete clearance of rejection, an uneventful embryo transfer was performed and a pregnancy was established. At 21 weeks, central placenta previa with accreta was diagnosed. A healthy neonate was delivered by cesarean hysterectomy at 34 weeks' gestation. In summary, this paper highlights the first live birth in North America resulting from a deceased donor uterus transplant. This achievement underscores the capacity of the transplanted uterus to recover from a severe, prolonged rejection and yet produce a viable neonate. This is the first delivery from our ongoing clinical trial in uterus transplantation, including the first reported incidence of severe mixed cellular/humoral rejection as well as the first reported placenta accreta.

Uterine transplantation (UT) is a novel treatment for absolute uterine factor infertility (AUFI) that is currently being performed under experimental protocols in multiple medical centers worldwide. At the time of this publication, there have been at least 10 live births by women with a transplanted uterus. As successful outcomes from this innovative procedure increase, it is likely that more centers will perform UT. Imaging is performed in multiple steps of the UT process, including preoperative imaging of potential donors and recipients, posttransplant surveillance, and monitoring of pregnancy. Fetal imaging is performed by maternal-fetal medicine professionals, but most imaging examinations in UT are performed by radiologists. Given the significant role of imaging in this groundbreaking surgery, radiologists must be familiar with the causes of AUFI and the role of imaging in establishing this diagnosis. Radiologists working in medical centers where UT is performed should understand the role of imaging in preoperative planning and postoperative surveillance. While data regarding complications of UT are preliminary at best, radiologists must be aware of the risk of vascular compromise and graft failure and their imaging features. The authors provide a brief history of UT and define the radiologist's role in pre- and postoperative imaging assessments.

Heterotopic pregnancies are an unusual phenomenon, which have recently become more prevalent with assisted reproductive technologies (ART). Triplets that are part of a heterotopic pregnancy are exceedingly rare. Here, we describe a case of a woman who presented at 15+1 weeks of gestational age with a known monochorionic-monoamniotic intrauterine pregnancy with several days of abdominal pain with an otherwise unremarkable gastrointestinal (GI) assessment. Salpingectomy was performed, and pathology revealed chorionic villi within the fallopian tube consistent with a heterotopic triplet pregnancy. This pregnancy was conceived spontaneously. Even without the prior use of ART, physicians need to be aware of the risk of heterotopic pregnancy in a patient with a known twin gestation. In addition, this case highlights how heterotopic triplets can present even within the second trimester.

Vaginal bleeding is common in women with liver cirrhosis. Hysterectomy is frequently done in women with liver cirrhosis. However, the postoperative mortality and morbidity is high and is correlated with severity of liver disease and other factors. Nonsurgical conservative options such as hormonal therapy or endometrial ablation should be tried first in women with liver cirrhosis. If surgery is needed, minimally invasive approach should be always considered. Women with liver cirrhosis undergoing surgery need extensive work up and should be optimized during the perioperative period. Further, surgery should be performed by an experienced surgeon and in a tertiary center.