BACKGROUNDThe 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. METHODSWe 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. RESULTSIn 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. CONCLUSIONSIn this large case series of 127 fetuses with unexplained NIHF, we identified a diagnostic genetic variant in approximately one third of the cases.
Key Points Question What are the characteristics and outcomes associated with giving birth with COVID-19 over the first year of the pandemic in the US? Findings This cohort study examines 869 079 adult women, including 18 715 women with COVID-19, who underwent childbirth at 499 US medical centers between March 1, 2020, and February 28, 2021. Women with COVID-19 had increased mortality, need for intubation and ventilation, and intensive care unit admission. Meaning These findings suggest that COVID-19 was associated with increased risk of morbidity and mortality for women giving birth.
Purpose: Numerous etiologies may lead to nonimmune hydrops fetalis (NIHF), and the underlying cause often remains unclear. We aimed to determine the proportion of NIHF cases in which the etiology was clearly determined in a large, contemporary, and diverse cohort, as well as to describe the etiologies with a focus on genetic causes. Methods: Retrospective review of NIHF cases between 2015 and 2017 from the five University of California Fetal–Maternal Consortium sites. Singleton pregnancies with prenatally diagnosed NIHF were included, and cases with maternal alloimmunization were excluded. Cases were categorized as being of confirmed, suspected, or unknown etiology. Results: Sixty-five NIHF cases were identified. Forty-six percent (30/65) remained of unknown etiology, while 9.2% (6/65) had a suspected etiology and 44.6% (29/65) were of confirmed etiology. Among confirmed cases, 11 resulted from aneuploidy; 7 from fetal structural anomalies; 2 each from fetal arrhythmia, Noonan syndrome, and generalized lymphatic dysplasia; and 1 each from arthrogryposis, parvovirus, neonatal alloimmune thrombocytopenia, fetal goiter, and Kasabach–Merritt syndrome. Conclusion: In this contemporary, multicenter study, the cause of prenatally diagnosed NIHF was confirmed in only 44% of cases, and a genetic etiology was found in only 25% of those that received standard of care genetic testing.
This article reviews the existing literature on pregnancy outcomes following radical trachelectomy for low-stage cervical carcinoma and describes the guidelines in our institution for obstetrical management after managing two pregnancies following radical trachelectomy. We performed a literature search in PUBMED, MEDLINE, and EMBASE for the keywords "radical trachelectomy," "pregnancy," or "fertility" from 1994 to the present. All observational studies were included, and duplicate cases were excluded from our review. In addition to our cases, 14 studies were reviewed and included. Selection criteria included case reports or series detailing pregnancy outcomes including gestational age at delivery. Data regarding pregnancy outcomes were tabulated from the reports with focus on additional procedures such as vaginal occlusion and delivery outcomes. Where data were unclear, the authors personally contacted the authors of previously published manuscripts for further data. Our results revealed that 40% of women conceived following radical trachelectomy. Of them they had a preterm delivery rate of 25%, and 42% culminated in delivery of a live born infant at term. The use of the vaginal occlusion procedure did not appear to prolong gestation when compared with those women who did not have the procedure, but the majority of successful pregnancy outcomes have occurred with a cerclage in place. In conclusion, successful pregnancy outcome is possible after radical trachelectomy for cervical cancer, with two thirds of pregnancies resulting in a live birth, including those of both cases reported. There is a higher frequency of adverse perinatal outcomes in these patients, however, and careful interdisciplinary planning and counseling prior to undertaking the trachelectomy is recommended.
Survey respondents employ diverse approaches in the management of patients with placenta accreta. Further study may lead to consensus strategies to improve outcome in this high-risk obstetric condition.
Acute pyelonephritis is one of the most common indications for antepartum hospitalization. When acute pyelonephritis is diagnosed, conventional treatment includes intravenous fluid and parenteral antibacterial administration. There are limited data by which to assess the superiority of one antibacterial regimen over the other in terms of efficacy, patient acceptance and safety for the developing fetus; however, it is important to consider antimicrobial resistance patterns in the local community when choosing an agent. Moreover, there are growing public health concerns regarding antimicrobial resistance to commonly prescribed medications for urinary tract infections in pregnancy. There is a small body of evidence to support the ambulatory treatment of pregnant women with pyelonephritis in the first and early second trimesters, but the majority of women will be managed as inpatients. This article provides a suggested algorithm for the treatment of pyelonephritis during pregnancy. Acute Pyelonephritis in PregnancyAcute pyelonephritis is one of the most common indications for antepartum hospitalization, complicating 1-2% of all pregnancies. Women with asymptomatic bacteriuria (ASB), traditionally defined as a urine culture from mid-stream collection with a single isolate of more than 100 000 THERAPY IN PRACTICE
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.