Maternal-fetal medicine (Wolters Kluwer Health, Inc.)最新文献

Autonomic nervous system dysfunction has been described with focal and generalized epileptic seizures; occurring during their ictal, interictal, or postictal states. International League Against Epilepsy Seizure Classification Manual defines autonomic seizures as a distinct alteration of autonomic nervous system function involving cardiovascular, pupillary, gastrointestinal, sudomotor, vasomotor, and thermoregulatory functions. Autonomic seizures represent a great challenge for neonatologists and neurophysiologists; and distinguishing between ictal and non-ictal autonomic changes in neonates is rarely straightforward, especially in the premature ones. To avoid overdiagnosis and overtreatment, International League Against Epilepsy and the American Clinical Neurophysiology Society currently require electrographic correlation for any seizure diagnosis, including preterm neonates. There is very little scientific evidence about the pathophysiology of autonomic seizures. The data reporting on their incidence, clinical features, and diagnostic pathway is also insufficient. In this paper, we hypothesize that in the developing brain of preterm neonates, seizures involving deeper autonomic networks and subcortical structures might not propagate sufficiently to the cortex, and therefore the association of the seizures with specific ictal electrographic changes on surface electroencephalogram might be lacking. We propose considering autonomic seizures in the differential diagnosis of unexplained autonomic changes in neonates, especially preterm neonates, even in the absence of clear initial electrographic correlation. Unexplained autonomic changes could therefore be thought of as a "seizure alarm" in this population.

Kabuki syndrome (MIM 147920) is an autosomal dominant rare disease featured with multiple malformations and mental retardation. The main clinical manifestations of Kabuki syndrome are characteristic facial features, skeletal abnormalities, dermatoglyphic abnormalities, postpartum growth retardation, mild to moderate mental retardation, as well as other structural and functional abnormalities that may involve multiple systems. The establishment of diagnosis needs to be combined with clinical phenotype and the discovery of pathogenic mutation. Compared with the abundant descriptions and records of genotype-phenotype of postpartum patients, few prenatal diagnosis cases of Kabuki syndrome had been reported, which partially result from lacking the knowledge of its phenotype in fetuses that might suggest the diagnosis. This report performed comprehensive prenatal examinations to identify a fetus's etiology with multiple structural anomalies characterized by ascites, thickening of local skin, and cardiac abnormalities. We ruled out intrauterine infection, thalassemia, and chromosome abnormality by corresponding tests. Finally, trio whole-exome sequencing revealed a de novo heterozygous variation c.15641g > A (p.r5214h) in exon 48 of the KMT2D gene was the fetus's genetic pathogeny causing Kabuki syndrome. This result suggests that Kabuki syndrome should be in the suspected etiology list for prenatal hydrops/ascites. Our study confirmed that prenatal whole-exome sequencing is an efficient tool for diagnosing fetal abnormalities, and a multidisciplinary team is necessary for providing pregnancy guidance to patients.

Objective: This study aimed to investigate the immune response of a pregnant woman who recovered from the coronavirus disease 2019 (COVID_RS) by using single-cell transcriptomic profiling of peripheral blood mononuclear cells (PBMCs) and to analyze the properties of different immune cell subsets.

Methods: PBMCs were collected from the COVID_RS patient at 28 weeks of gestation, before a cesarean section. The PBMCs were then analyzed using single-cell RNA sequencing. The transcriptional profiles of myeloid, T, and natural killer (NK) cell subsets were systematically analyzed and compared with those of healthy pregnant controls from a published single-cell RNA sequencing data set.

Results: We identified major cell types such as T cells, B cells, NK cells, and myeloid cells in the PBMCs of our COVID_RS patient. The increase of myeloid and B cells and decrease of T cells and NK cells in the PBMCs in this patient were quite distinct compared with that in the control subjects. After reclustering and Augur analysis, we found that CD16 monocytes and mucosal-associated invariant T (MAIT) cells were mostly affected within different myeloid, T, and NK cell subtypes in our COVID_RS patient. The proportion of CD16 monocytes in the total myeloid population was increased, and the frequency of MAIT cells in the total T and NK cells was significantly decreased in the COVID-RS patient. We also observed significant enrichment of gene sets related to antigen processing and presentation, T-cell activation, T-cell differentiation, and tumor necrosis factor superfamily cytokine production in CD16 monocytes, and enrichment of gene sets related to antigen processing and presentation, response to type II interferon, and response to virus in MAIT cells.

Conclusion: Our study provides a single-cell resolution atlas of the immune gene expression patterns in PBMCs from a COVID_RS patient. Our findings suggest that CD16-positive monocytes and MAIT cells likely play crucial roles in the maternal immune response against severe acute respiratory syndrome coronavirus 2 infection. These results contribute to a better understanding of the maternal immune response to severe acute respiratory syndrome coronavirus 2 infection and may have implications for the development of effective treatments and preventive strategies for the coronavirus disease 2019 in pregnant women.

Pregnancy is a physiological state that predisposes women to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, a disease that can cause adverse maternal and perinatal outcomes. The severity of coronavirus disease 2019 (COVID-19) disease is known to vary by viral strain; however, evidence for the effects of this virus in pregnant women has yet to be fully elucidated. In this review, we describe maternal and perinatal outcomes, vaccination, and vertical transmission, among pregnant women infected with the different SARS-CoV-2 variants identified to date. We also summarize existing evidence for maternal and perinatal outcomes in pregnant women with specific information relating to SARS-CoV-2 variants. Our analysis showed that Omicron infection was associated with fewer severe maternal and perinatal adverse outcomes while the Delta variant was associated with worse pregnancy outcomes. Maternal deaths arising from COVID-19 were found to be rare (<1.0%), irrespective of whether the virus was a wild-type strain or a variant. Severe maternal morbidity was more frequent for the Delta variant (10.3%), followed by the Alpha (4.7%), wild-type (4.5%), and Omicron (2.9%) variants. The rates of stillbirth were 0.8%, 4.1%, 3.1%, and 2.3%, respectively, in pregnancies infected with the wild-type strain, Alpha, Delta, and Omicron variants, respectively. Preterm birth and admission to neonatal intensive care units were more common for cases with the Delta infection (19.0% and 18.62%, respectively), while risks were similar for those infected with the wild-type (14.7% and 11.2%, respectively), Alpha (14.9% and 13.1%), and Omicron variants (13.2% and 13.8%, respectively). As COVID-19 remains a global pandemic, and new SARS-CoV-2 variants continue to emerge, research relating to the specific impact of new variants on pregnant women needs to be expanded.

The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection has spread worldwide and threatened human's health. With the passing of time, the epidemiology of coronavirus disease 2019 evolves and the knowledge of SARS-CoV-2 infection accumulates. To further improve the scientific and standardized diagnosis and treatment of maternal SARS-CoV-2 infection in China, the Chinese Society of Perinatal Medicine of Chinese Medical Association commissioned leading experts to develop the Recommendations for the Diagnosis and Treatment of Maternal SARS-CoV-2 Infection under the guidance of the Maternal and Child Health Department of the National Health Commission. This recommendations includes the epidemiology, diagnosis, management, maternal care, medication treatment, care of birth and newborns, and psychological support associated with maternal SARS-CoV-2 infection. It is hoped that the recommendations will effectively help the clinical management of maternal SARS-CoV-2 infection.

Objective: This review aimed to compile scientific data on the distribution and prevalence of group B Streptococcus (GBS) serotypes isolated from pregnant women across 30 countries from 2010 to 2019.

Methods: This was a systematic review that addresses the distribution and prevalence of GBS in pregnant women. The search included studies published between January 2010 and December 2019 in PubMed, Virtual Health Library (BVS), ScienceDirect, Scientific Electronic Library Online (SciELO), and LILACS databases. We also surveyed relevant articles published in English, Spanish, and Portuguese between February and April 2020. Original articles, communication, short report, theses, and dissertations were included. The prevalence of GBS colonization, method for capsular serotyping, antimicrobial resistance, distribution and prevalence of serotypes were extracted from each study.

Results: In all, 795 publications were identified. After applying the eligibility criteria, 48 articles were included for the final systematic analysis; most articles were from Asia and were published during the years 2014 to 2017. For the identification of serotypes, most studies used the polymerase chain reaction technique. There were records of all 10 GBS serotypes, namely, Ia, Ib, and II-IX, among the countries analyzed. GBS susceptibility and resistance to antibiotics were addressed in 37.5% of the publications analysed.

Conclusion: This review showed that GBS serotypes are distributed differently in the 30 analyzed countries, with serotypes Ia, Ib, and II to V being the most prevalent. Furthermore, our results highlighted the relationship of GBS with maternal colonization, implications for neonates, and antibiotic resistance.

Bartter syndrome is a group of autosomal recessive renal tubular disorders; it has two types of presentation: antenatal and classic. The antenatal type presents as severe unexplained polyhydramnios in the second trimester. This is due to fetal urinary losses of sodium, chloride, and potassium, leading to fetal polyuria. The classic type presents in the late neonatal or infancy stage, with dehydration, dyselectrolytemia, failure to thrive, and nephrocalcinosis. Antenatal scans are normal in such cases. Type I and II Bartter syndrome presents in the antenatal period, whereas type IV has a classic presentation. We describe an unusual case of type IVa Bartter syndrome presenting in the antenatal period, with severe polyhydramnios. The initial diagnosis was made based on amniotic fluid chloride levels and later confirmed by performing a genetic test. Genetic testing is important for confirming diagnosis and prognostication regarding the condition.