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

With the advances in fetal medicine, there will be more cases of congenital hypothyroidism (CH) diagnosed in the fetal period. However, there is no consensus on the management protocol. We present a successful case of conservatively managed fetal goitrous hypothyroidism due to compound heterozygous TG mutations. Goiter was observed in a fetus at 23 weeks of gestation. Because there was no evidence of transplacental passage of antithyroid antibody and drugs, iodine overload, and iodine deficiency, the fetus was highly suspected to have CH. Considering the potential risks of amniocentesis/cordocentesis, and lack of available parenteral levothyroxine in China, the fetus was closely monitored thereafter. A male neonate was delivered vaginally without complications at 39 weeks of gestation. We verified severe hypothyroidism in the infant and immediately initiated levothyroxine therapy. His growth and mental development were normal at the age of 8 month. Whole-exome sequencing showed that the neonate had two compound heterozygous mutations in the TG gene. We also performed a literature review of the prognosis of postnatal treatment of CH due to TG mutations and the result showed that postnatal treatment of CH due to TG mutations has a favorable prognosis. However, further prospective studies are warranted to verify this conclusion.

Steroid hormones, including progestagens, estrogens, androgens, corticosteroids, and their precursor cholesterol, perform essential functions in the successful establishment and maintenance of pregnancy and normal fetal development. As the core endocrine organ at the prenatal stage, the human placenta is involved in the biosynthesis, metabolism, and delivery of steroid hormones. Steroidogenic pathways are tightly regulated by placenta-intrinsic cytochrome P450 and hydroxysteroid dehydrogenase. However, the relationship between placental steroidogenic enzyme expression and adverse pregnancy outcomes is controversial. In this review, we summarize the possible upstream regulatory mechanisms of placental steroidogenic enzymes in physiologic and pathophysiologic states. We also describe the human placental barrier model and examine the potential of single-cell sequencing for evaluating the primary functions and cellular origin of steroidogenic enzymes. Finally, we examine the existing evidence for the association between placental steroidogenic enzyme dysregulation and adverse pregnancy outcomes.

Objective: To assess the relationship between ovarian hyperstimulation syndrome (OHSS) and adverse outcomes using population-based data in the United States. The hypothesis is that patients with OHSS were more likely to deliver preterm and more likely to have hypertensive disorders.

Methods: This retrospective cohort study identified 94 patients with OHSS and 183 matched referents in eight counties in Minnesota. Data were collected regarding pregnancy history, infertility treatment, and pregnancy outcomes. Using the Rochester Epidemiology Project, study subjects were identified from female patients, aged 18 to 49 years, who were diagnosed with infertility from January 2, 1995 to December 1, 2017, and had a pregnancy greater than 20 weeks' gestation. The primary outcome was preterm delivery or hypertensive disorder of pregnancy incidence in the OHSS group when compared with control patients. Chi-squared test, t test, and multivariate logistic models were used where appropriate.

Results: Patients with OHSS were more likely to deliver preterm (odds ratio, 2.14; 95% confidence interval, 1.26-3.65; P < 0.01), and their neonates were more likely to be small for gestational age (odds ratio, 4.78; 95% confidence interval, 1.61-14.19; P < 0.01). No significant differences between the groups were observed in any other outcome. Patients with OHSS are more likely to deliver preterm if they undergo fresh transfer compared with a freeze all and subsequent frozen transfer (odds ratio, 3.03, 95% confidence interval, 1.20-7.66, P = 0.02).

Conclusion: OHSS may lead to preterm birth and small-for-gestational-age neonates, which changes patient counseling and leads to arranging specialized obstetrical care for these patients with OHSS.

Objective: This study aimed to determine the most pertinent factors responsible for placenta accreta spectrum disorders in patients without any history of pregnancy and evaluate their prognostic implications.

Methods: This retrospective cohort study included 1009 patients diagnosed with placenta accreta spectrum disorders based on standardized diagnostic criteria across 10 tertiary hospitals in China between January 1, 2018, and December 31, 2018; 45 patients without a history of pregnancy were selected. The collected data mainly included demographic characteristics (including age, operative history, and ultrasound findings) and maternal-fetal outcomes (including any history of intraoperative bleeding, blood transfusion details, maternal-fetal complications, and fetal Apgar scores). SPSS 24.0 was used for statistical analyses. The Mann-Whitney U test and logistic regression were performed; a two-tailed P < 0.050 was considered statistically significant.

Results: Ultrasound-based detection of placenta previa (χ ² = 9.911, P = 0.003) showed a strong association with placenta accreta spectrum types. The severity of placenta accreta spectrum was directly proportional to the likelihood of having coexistent complete placenta previa (χ ² = 11.626, P = 0.009) and being diagnosed by ultrasound (χ ² = 5.449, P = 0.047). Blood transfusion also impacted placenta accreta spectrum types in relation to maternal prognosis (χ ² = 8.785, P = 0.004). On univariate analysis, older age led to more complications (U = 82.000, P = 0.011), and in vitro fertilization-embryo transfer caused more intraoperative bleeding (U = 91.500, P = 0.007). Although the 1- and 5-minute Apgar scores were statistically significant, the rates of neonatal asphyxia did not differ (P > 0.050). Endometrial damage led to lower Apgar scores on both univariate (1 minute: U = 29.500, P = 0.027; and 5 minutes: U = 33.500, P = 0.031) and multivariate (1 minute: β = -1.510, 95% confidence interval, -2.639 to 0.381, P = 0.010; and 5 minutes: β = -0.968, 95% confidence interval, -1.779 to 0.157, P = 0.021) analyses.

Conclusion: In patients who had no history of pregnancy, placenta previa was a strong risk factor for severe placenta accreta spectrum disorders. Endometrial damage led to lower Apgar scores; this warrants greater consideration in the clinic.

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.