Complete rupture of the pregnant uterus: A 12-year retrospective study.

OBJECTIVE: To assess the frequency of uterine ruptures, clinical characteristics, and maternal and neonatal outcomes in a tertiary referral center. METHODS: Information on complete uterine rupture between July 2010 and June 2022 was investigated retrospectively at a tertiary center. RESULTS: There were 42 cases of complete uterine rupture in 144 474 deliveries, with an incidence rate of 0.029%. Twenty-seven cases had a scarred uterus and 15 had an unscarred uterus; Rupture of the lower uterine segment was predominant in the scarred uterus, whereas rupture of the body of the uterus was predominant in the non-scarred uterus (P ≤ 0.001). Newborns with Apgar score of 7 or less at 1 min in the non-scarred uterus group was more than that in the scarred uterus group (P = 0.001). There were no significant differences in the history of gynecologic surgery, induction of labor, mode of delivery, clinical features, maternal outcomes, neonatal weight, preterm birth rate, 5-min Apgar score, or neonatal mortality between the two groups (P > 0.05). CONCLUSION: The clinical manifestations of uterine rupture are mainly abdominal pain, abnormal fetal heartbeat, or vaginal bleeding. Attention should also be paid to the history of previous uterine surgery. Strict prenatal management, early identification, and aggressive management can help improve maternal and child outcomes. Hysterectomy is not imperative.

Refining molecular subtypes and risk stratification of ovarian cancer through multi-omics consensus portfolio and machine learning.

Ovarian cancer (OC), known for its pronounced heterogeneity, has long evaded a unified classification system despite extensive research efforts. This study integrated five distinct multi-omics datasets from eight multicentric cohorts, applying a combination of ten clustering algorithms and ninety-nine machine learning models. This methodology has enabled us to refine the molecular subtyping of OC, leading to the development of a novel Consensus Machine Learning-driven Signature (CMLS). Our analysis delineated two prognostically significant cancer subtypes (CS), each marked by unique genetic and immunological signatures. Notably, CS1 is associated with an adverse prognosis. Leveraging a subtype classifier, we identified five key genes (CTHRC1, SPEF1, SCGB3A1, FOXJ1, and C1orf194) instrumental in constructing the CMLS. Patients classified within the high CMLS group exhibited a poorer prognosis and were characterized by a "cold tumor" phenotype, indicative of an immunosuppressive microenvironment rich in MDSCs, CAFs, and Tregs. Intriguingly, this group also presented higher levels of tumor mutation burden (TMB) and tumor neoantigen burden (TNB), factors that correlated with a more favorable response to immunotherapy compared to their low CMLS counterparts. In contrast, the low CMLS group, despite also displaying a "cold tumor" phenotype, showed a favorable prognosis and a heightened responsiveness to chemotherapy. This study's findings underscore the potential of targeting immune-suppressive cells, particularly in patients with high CMLS, as a strategic approach to enhance OC prognosis. Furthermore, the redefined molecular subtypes and risk stratification, achieved through sophisticated multi-omics analysis, provide a framework for the selection of therapeutic agents.

Perineal stress as a predictor of performing episiotomy in primiparous women: a prospective observational study.

BACKGROUND: Episiotomy is a surgical solution to relieve perineal stress, resulting in an easily repairable incision, in comparison to the risks of serious vaginal trauma during delivery. The midwife typically adopts such a clinical decision, on experience and subjective judgment. However, the association between perineal stress and episiotomy is poorly characterized. Our aim was to identify a threshold value for perineal stress leading to episiotomy, which eventually may be employed as a clinical tool for assessing whether an episiotomy is required or not. METHODS: In total, 245 nulliparous women were investigated for perineal stress during non-instrumental vaginal delivery in Ningbo Women & Children's Hospital. During the second stage of labor, a flexible membrane stress sensor was placed between the fetal head and perineal wall above the anal fissure. Once the entire fetal head pressed against the sensor, real-time perineal stress was measured, and the peak value was recorded. Cases were divided into non-episiotomy group (n = 173) and episiotomy group (n = 72). The correlations between perineal stress and episiotomy was assessed through logistic regression with adjustment for maternal age, estimated birthweight, duration of second stage of labor, maternal body mass index, and presence of analgesia. Midwives were blinded to all stress measurement values. The predictive value of perineal stress on performing episiotomy was evaluated, together with the ideal cut-off perineal stress value for performing episiotomy. A ROC analysis was also performed. RESULTS: The episiotomy group had significantly higher levels of perineal stress in comparison to the non-episiotomy group (140.50 ± 16.03 N versus 118.37 ± 19.21 N, p < 0.01). The episiotomy group was linked to significantly higher perineal stress in comparison to the non-episiotomy group (140.50 ± 16.03 VS 118.37 ± 19.21 N, p < 0.01). ROC analysis between perineal stress and episiotomy revealed a high area under the curve (AUC 0.81, 95% CI 0.75-0.86) and a cut-off value for perineal stress of 124.49 N was identified for episiotomy decision. CONCLUSION: The level of perineal stress was an independent predictor of performing episiotomy in nulliparous women during non-instrumental vaginal delivery. Perineal stress exceeding 124.49 N was identified as the cut-off prompting midwives to perform episiotomy.

[Analysis of TUBB2B gene variant in a fetus with complex cortical dysplasia with other brain malformations-7].

OBJECTIVE: To explore the genetic basis for a fetus with dysgenesis of corpus callosum and other brain malformations. METHODS: Whole exome sequencing was carried out for the fetus and its parents. Suspected pathogenic variants were verified by Sanger sequencing. RESULTS: A novel de novo missense variant c.758T>A (p.L253Q) of the TUBB2B gene was identified, which was unreported previously. Based on the guidelines from the American College of Medical Genetics, the c.758T>A variant was predicted to be likely pathogenic. Bioinformatics analysis predicted that the leucine at position 253 was highly conserved among various species, and the c.758T>A variant may impact the formation of hydrogen bonds between Leu253 and Asp249 and Met257 residues, which in turn may affect the combination of GTP/GDP and function of the TUBB2B protein. CONCLUSION: The c.758T>A variant of the TUBB2B gene probably underlay the fetal malformations in this Chinese family. Above discovery has enriched the spectrum of TUBB2B gene variants and provided a basis for genetic counseling and prenatal diagnosis.

[Analysis of non-invasive prenatal testing in 14 047 cases of advanced age pregnant women].

OBJECTIVE: To assess the value of non-invasive prenatal testing (NIPT) for the diagnosis of fetal chromosomal aneuploidies among women with advanced gestational age. METHODS: 14 047 pregnant women have voluntarily accepted the NIPT test. The results of NIPT and amniocytic karyotyping analysis were compared, and the outcome of pregnancy was followed up. RESULTS: NIPT has identified 104 cases with a high risk for trisomies 21, 18 and 13, and 44 cases with a high risk for sex chromosome abnormalities. After genetic consultation, 87 of 104 cases have accepted amniocyte chromosomal karyotyping. 63 cases of fetal chromosome abnormality were confirmed, including 46 cases of 21 trisomy, 11 cases of 18 trisomy and 6 cases of 13 trisomy. The positive predictive value was 83.64% (46/55), 61.11% (11/18), and 42.86% (6/14), the specificity was 99.93%, 99.95%, 99.94%, and the sensitivity was 100%. Among the 44 cases, 34 received amniocytic chromosomal karyotyping analysis, 11 cases were confirmed, the positive predictive value was only 32.35%. No aneuploidy was found in the low-risk cases. The negative predictive value was 100%. CONCLUSION: As a prenatal screening method for women with advanced gestational age, NIPT has the highest positive predictive value for trisomy 21 and trisomy 18, but a lower positive predictive value for sex chromosome abnormalities. NIPT has a very low rate of missed diagnosis of trisomies 21, 18 and 13, which can significantly reduce the number of women undergoing invasive prenatal diagnosis.