Search Results (41)

Background and objectives: The prevalence of uterine malformations, affecting up to 7% of the general population, is associated with high rates of pregnancy complications, such as infertility, miscarriage, preterm delivery, malpresentation, ectopic pregnancy, and other complications, with high rates of both maternal and fetal morbidity and mortality. Surgical procedures have been proposed to remediate these anomalies, with different outcomes. In this context, our study aimed to emphasize the complications encountered in our department and the pregnancy results. Materials and Methods: A retrospective cohort study was performed on all the women who delivered in one university-affiliated medical center between 2010 and 2017 with congenital uterine malformations. A total of 62 women were included: 26 with uterine malformations and 36 as controls. Statistical analyses were performed with the level of statistical significance set at p < 0.05. Results: Only 53.8% of the pregnancies in women with uterine malformations ended in a live birth. The cesarean section rate was 64.3% in the study group. The only successful surgical procedure performed to restore fertility was cerclage. A lower Apgar score and a higher rate of neonate admission into the intensive care unit were observed in the study group, at 11.5% compared to 0 in the control group. The most important complication encountered with statistical significance was preterm delivery. Conclusions: This study demonstrated that uterine congenital malformations are an independent risk factor for pregnancy complications. Full article

Background/Objectives: Endometriosis and urogenital malformation with uterus didelphys and renal agenesis might occur concomitantly, and the question arises whether both entities are associated with each other. Methods: A literature search was conducted in PubMed and Web of Science, using the following search terms: “endometriosis and uterine malformation, endometriosis and Herlyn–Werner–Wunderlich syndrome”, “endometriosis and OHVIRA (Obstructed Hemivagina and Ipsilateral Renal Anomaly) syndrome” and “uterus didelphys, renal agenesis and endometriosis”. Results: We identified and examined 36 studies, comprising a total of 563 cases with coinciding endometriosis and OHVIRA. The most prevalent symptoms were dysmenorrhea and lower abdominal pain. Renal agenesis occurred more frequently on the right side. In the majority of cases, vaginal septum resection was performed to alleviate hematometrocolpos. Among the 97 cases necessitating abdominal exploration, endometriosis was identified in 61 patients (62.9%), although this figure is most likely an overestimation. However, a significantly heightened risk of endometriosis was evident. Conclusions: This literature review highlights the importance of considering the potential for urogenital malformation and endometriosis in cases of dysmenorrhea during adolescence. Ultrasound examination has proven to be a valuable diagnostic tool for identifying uterine abnormalities and guiding subsequent diagnostic and, if necessary, surgical interventions. Thorough assessment and appropriate management are imperative to mitigating the long-term consequences associated with deep infiltrating endometriosis. Full article

Objective: To evaluate the relationship between prenatal risk factors and developmental dysplasia of the hip using the Graf grade, and to identify the determinants of a higher Graf grade. Materials and Methods: A retrospective analysis of data from 112 newborns with DDH was conducted. The participants were selected on the basis of a DDH diagnosis using sonography. A total of 181 hips of patients with DDH were considered in our study group (Graf types IIa to IV), and the normal hips of those affected unilaterally were excluded from the analyses (43 participants were affected unilaterally). The risk factors considered included female sex, breech presentation, firstborn status, familiarity, association with other orthopedic abnormalities, and uterine packing, which includes factors such as twin pregnancy, macrosomia, and oligohydramnios. Binary logistic regression was used to analyze the relationship between these variables and the Graf type of DDH at presentation, which was defined using two groups: Graf types IIc–IV, which include unstable or decentered hips, and Graf types IIa and IIb, which encompass stable and centered hips. Results: The analyses revealed a significant protective role of the presence of other lower limb congenital malformations such as clubfoot, which was more closely associated with a stable form of DDH (OR = 0.26, p = 0.017), a significant association between the presence of mechanical risk factors in females with an unstable form of DDH (OR = 5.00, p = 0.042), a borderline significant protective role of breech presentation in females, which was more closely associated with a stable form of DDH (OR = 0.25, p = 0.054), and a borderline significant association between the presence of mechanical risk factors and an unstable form of DDH (OR = 4.28, p = 0.054). Conclusions: Prenatal risk factors may have a complex effect on the Graf grade in DDH. The protective effects of some factors in contrast with the increased risk associated with other factors suggest a possible relationship, with some prenatal risk factors affecting the severity of DDH. These findings may have implications for the early identification and management of DDH. Full article

Uterine arteriovenous malformations (UAVMs) that occur after birth are a rare cause of late postpartum hemorrhage. Acquired UAVMs usually occur in conjunction with pathology of the placenta. In the spectrum of placenta accreta (PAS), subinvolution of the placental bed plays an important role in its pathophysiology. We present a case of UAVM in a pregnant woman with PAS who presented with marked metrorrhagia after delivery, which was treated with classical management. Then, 35 days later, she presented to the emergency room with severe metrorrhagia. As it was suspected that she had placental remnants, an instrumental uterine control was performed, but the bleeding persisted, requiring further uterine packing and blood administration. Later, uterine artery embolization was performed with good results. Color Doppler ultrasound, magnetic resonance imaging, and angiography were the methods with the greatest diagnostic value. The differential diagnosis was as complex as the treatment. We hypothesize that UAVM may develop from minimal residual PAS in this late postpartum period. Moreover, they may recover rapidly after local surgical ablation. Considering the clinical condition, hemodynamic status, and desire to preserve fertility, we were able to avoid a hysterectomy, which is often chosen in such cases of severe, life-threatening bleeding complications. Full article

Objectives. Infertility is a topic of great interest around the world because it affects many couples at young ages. It can be caused by genetic background, associated with pathologies and/or external factors. The purpose of our study was to identify the causes of infertility of women presented in our clinic with this pathology. Materials and Methods. This retrospective study was performed on women with primary or secondary infertility. The analyzed data were age, weight, hereditary and personal pathological history, medication, menstrual cycle characteristics, standard blood tests, ultrasound, hysterosalpingography and hysteroscopy. Results. The study included 204 women with average age 35 years. The main diagnosis was primary infertility in 68.63% and secondary infertility in 31.37% cases. One of the most common diagnosed findings in ultrasound were uterine fibroids with an incidence of 6.86%, the incidence being higher among women with primary infertility than in women with secondary infertility. Regarding endometrial polyps, 96.15% of cases were observed ultrasonographical and the incidence of endometrial polyps was higher among women with primary infertility than in women with secondary infertility. Conclusions. This study identified that infertility is a multifactorial pathology, which requires multidisciplinary addressability. Gynecological pathology (such as tubal pathologies, uterine malformations, uterine fibroids, endometriosis, endometrial polyps, etc.) was very common among these patients, finding and treating the condition being the main objective of the study. Full article

The risk of infection transmission from mother to fetus depends on the pathogen. TORCH agents cause some neuroinfections, including Toxoplasmosis, rubella, Cytomegalovirus, herpes simplex 1 and 2, and others (Varicella Zoster, Parvovirus B-19, Epstein–Barr virus, and Zika virus). The consequences can be stillbirth, prematurity, uterine growth restriction, and congenital malformations. The detection of DNA/RNA from CSF by molecular methods is a marker of the involvement of congenital infection in the central nervous system. This study aimed to identify the frequency of these pathogens in CSF samples from newborns (1 to 28 days old) at a tertiary hospital, using PCR, and determine the clinical consequences. Methods: This was a prospective descriptive study involving the molecular analysis of 151 CSF samples from neonates, collected for cytological and biochemical diagnosis from 2017 to 2021. After the results and consent from the participants’ caregivers were obtained, the leftover material was sent to the University’s Virology Laboratory and submitted for DNA/RNA extraction and Nested-PCR/RT-PCR. A review of the patients’ medical records and descriptive statistics was performed. This work was approved by the Ethics Committee (CAAE: 86760218.3.0000.5404). Results: A total of 151 CSF samples were obtained, 16 of which were positive (10.6% [95% CI%: 6.18–16.63%]). Two of these were PCR-positive for HSV-1 (1.3%), four for VZV (2.6%), one for CMV (0.67%), two for Toxoplasmosis (1.3%), four for Parvovirus B-19 (2.6%), and four for Zika (2.6%). The proportion of positive PCR results was higher in the group that presented with malformations (25.0% vs. 8.4%, p = 0.040). Conclusions: The pathogens identified by PCR were mostly Zika virus, VZV, and B-19, and these were mainly found in newborns with malformations. Full article

A complete uterine septum, with a double cervix and vaginal septum, is a complex and rare congenital genital tract anomaly. The diagnosis is difficult and often challenging, requiring complex imaging investigations and diagnostic hysteroscopy. The benefit of hysteroscopic metroplasty for this uterine malformation is still the subject of dispute. However, the potential benefits of obtaining pregnancies and reducing the rate of abortions make this surgical method a desirable one. We present a series of three cases with U2bC2V1 malformation that were diagnosed via magnetic resonance imaging (MRI), in which hysteroscopic removal of the uterine septum and resection of the longitudinal vaginal septum were performed, with the preservation of the two cervixes. All patients became pregnant after the hysteroscopic intervention and reported an improvement in dyspareunia and dysmenorrhea. Full article

A T-shaped uterus is a rare uterine malformation that is classically associated with diethylstilbesterol (DES) exposure. Surprisingly, the prevalence of T- and Y-shaped uterus has increased in recent years despite the absence of a diagnostic consensus and a correlation with the reproductive outcomes has been observed. A systematic electronic database search for all English-language studies published on reproductive outcomes associated with dysmorphic uteri over the past 10 years using PubMed, Google Scholar, and Scopus was performed. This uterine malformation is associated with impaired reproductive outcomes, including primary infertility, miscarriage, ectopic pregnancy, and preterm birth. Hysteroscopic metroplasty is a simple surgical procedure that could potentially improve outcomes in subfertile women, but the data are not robust. Studies reported significant improvements in implantation and pregnancy rates after corrective metroplasty in women undergoing in vitro fertilization. However, multicenter, prospective, randomized, and controlled trials are needed to validate these findings and to help define clear diagnostic criteria, surgical indications, and appropriate follow-up of reproductive outcomes after the procedure. Full article

Precancerous and cancerous lesions of the uterine cervix are known to be associated with Human Papillomavirus (HPV) infection. The screening of high-risk (HR)-HPV infection in the female population has led to the discovery of several cases of a double cervix, a congenital malformation that is very rare. The purpose of this study was to evaluate HR-HPV infections in women with a double cervix within the National Cervical Cancer Screening program of the Lazio region (Italy). From June 2021 to March 2024, a total of 142,437 samples were analyzed by Seegene’s Anyplex TM II HR-HPV method, which identifies 14 HR-HPV genotypes. For each woman identified with a double cervix, two separate samples were taken from both cervices and analyzed separately. Twenty-seven women with a double cervix were identified (0.019%): 23 women were tested as negative for both cervices, while the remaining four (namely A, B, C, and D) resulted positive. By genotyping, the following results were obtained: (A) Both samples showed genotype 31; (B) one cervix was negative while the other showed genotype 58; (C) one cervix was positive for HPV 18 and 31 while for 18, 31, and 33 in the other; and (D) one cervix showed genotype 66 while the other carried the 66 and 68 genotypes. Double cervix is a very rare condition where the presence of HR-HPV genotypes is not homogeneous. As already described, our study confirms that different genotypes can be detected in double cervix malformation, suggesting the need to perform HPV screening on brushing samples from both cervices. Full article

Female infertility constitutes a growing health problem in developing countries and could be associated with several possible causes including reproductive disorders, congenital malformations, infections and hormonal dysfunction. Nonetheless, a series of additional factors can also negatively impact female fertility and are represented by chronic exposure to environmental pollutants, stress, unhealthy lifestyle choices such as cigarette smoking and, among others, obesity. Excess weight is associated with several chronic diseases, and growing evidence demonstrates that it can compromise reproductive physiology due to its influence on endometrial gene expression and receptivity. Thus, the current review of the literature mainly focused on how obesity can impair uterine receptivity, mostly from a molecular point of view throughout the window of implantation (WOI) period at an endometrial level. It was also highlighted that an obesity-related increase in adipose tissue may lead to a modulation in the expression of multiple pathways, which could cause a hostile endometrial environment with a consequent negative impact on the uterine receptivity and the establishment of pregnancy. Thanks to the use of the endometrial receptivity assay (ERA), a specific microarray that studies the expression of a series of genes, it is now possible to evaluate the endometrial status of patients with infertility problems in a more detailed manner. Moreover, female fertility and endometrial receptivity could be affected by endometriosis, a chronic benign gynecological disease, whose cause-and-effect relationship to obesity is still uncertain. Therefore, further investigations would be required to better elucidate these mechanisms that govern embryo implantation and could be potentially useful for the generation of new strategies to overcome implantation failure and improve the pregnancy rates in obese women. Full article

Uterine arteriovenous malformations are a rare cause of puerperal haemorrhage, but their incidence is increasing due to both improved diagnosis and the more frequent use of uterine surgery in recent years. The use of ultrasound, both B-mode and Doppler, is recommended for diagnosis and follow-up, as it has been shown to be the simplest and most cost-effective method. Endometrial thickening associated with an anechoic and vascular intramiometrial structure is very useful for diagnosis and can help to exclude other causes of dysfunctional bleeding. Pulsed Doppler shows low-resistance vessels and high pulsatility indices with a high peak systolic velocity (PSV). In a healthy myometrium, the vessels have a peak systolic velocity of 9–40 cm/s and a resistance index between 0.6 and 0.8, whereas in the case of AVMs, the systolic and diastolic velocities are 4–6 times higher (PSV 25–110 cm/s with a mean of 60 cm/s and a resistance index of 0.27–0.75 with a mean of 0.41). For treatment, we must individualise each case, taking into account haemodynamic stability, the patient’s reproductive wishes, and the severity of the AVM as assessed by its size and PSV. Full article

Complex urogenital malformations are clinically highly relevant; thus, they must be appropriately diagnosed and classified before initiating treatment. Background/Objectives: This study aimed to evaluate the applicability and suitability of the embryological–clinical classification of female genital malformations. Methods: A systematic review of cases of genital malformations reported in the literature from 2000 to 2020 was conducted. Case reports and series with the following combinations: “female genital tract” AND (malformation OR anomaly OR müllerian anomaly OR uterine anomaly OR cervical anomaly OR vaginal anomaly OR cloacal anomaly OR urogenital sinus); and “female genital tract” AND (renal agenesis OR ectopic ureter) were searched. A total of 3124 articles were identified, of which 824 cases of genital malformation were extracted. The characteristics of each malformation were included in a database for further analyses. Results: Using the embryological–clinical classification, 89.9% of the published cases and 86.5% of the 52 cases defined as unclassifiable by their authors have been classified in this review. In 73 cases (72.2%), the classification of the malformation using the AFS system was incomplete because although the type of uterine anomaly of the AFS classification matched that of the embryological–clinical classification, characteristics of the urinary system or the vagina were overlooked when using the AFS system. Following a dispersion matrix, we have been able to show that the embryological–clinical classification system is able to classify and subclassify the genitourinary malformations more accurately. Conclusions: The applicability of the embryological–clinical classification has been confirmed after classifying most of the cases of genital malformation previously published. This system also provides a more complete and accurate classification than other classifying systems exclusively based on Müllerian duct development or uterovaginal parameters, demonstrating its suitability. Full article

Uterine arteriovenous malformation (AVM) is very rare but potentially life-threatening. Early and accurate diagnosis is the cornerstone of its management. The objective of this study is to encourage sonographers to become familiar with a variety of grayscale sonographic features, facilitating rapid recognition of the patterns and prompting them to apply color flow Doppler for a diagnosis of uterine AVM and possible further investigations or interventions. We present six cases of uterine AVM presenting with abnormal uterine bleeding at varying degrees of severity, from abnormal menstruation to life-threatening bleeding following curettage. All initially provided some clues of uterine AVM upon grayscale ultrasound, leading to the application of color Doppler flow to support a diagnosis, with confirmation using abdominal computer tomography angiography (CTA) in most cases, resulting in definitive treatment using uterine artery embolization or other interventions. Most importantly, this study provides various sonographic features of uterine AVM, such as appearances of small tubular structures, spongy patterns, a conceptive-product-like appearance, and spaghetti-like patterns. Hopefully, familiarity with these sonographic features can facilitate practitioners to make an early diagnosis, leading to proper further investigation and intervention, and to prevent serious complications from potentially being caused by this subtle but very serious disorder. Full article

The Mayer–Rokitansky–Küster–Hauser syndrome is characterized by aplasia of the uterus and upper two-thirds of the vagina. While it can appear as an isolated genital malformation, it is often associated with extragenital abnormalities, with little still known about the pathogenetic background. To provide an overview of associated malformations and syndromes as well as to examine possible ties between the rudimentary tissue and patient characteristics, we analyzed a cohort of 469 patients with MRKHS as well as 298 uterine rudiments removed during surgery. A total of 165 of our patients (35.2%) had associated malformations (MRKHS type II). Renal defects were the most common associated malformation followed by skeletal abnormalities. Several patients had atypical associated malformations or combined syndromes. Uterine rudiments were rarer in patients with associated malformations than in patients without them. Rudiment size ranged from 0.3 cm³ to 184.3 cm³ with a mean value of 7.9 cm³. Importantly, MRKHS subtype or concomitant malformations were associated with a different frequency of uterine tissue as well as a different rudiment size and incidence of endometrial tissue, thereby indicating a clear heterogeneity of the phenotype. Further research into the associated molecular pathways and potential differences between MRKHS subtypes is needed. Full article

Maintenance of remission during pregnancy is vital for women with inflammatory bowel disease (IBD). The antenatal safety of novel small molecules for IBD is yet to be ascertained. We aimed to describe the current evidence on reproductive data regarding small-molecule drugs. We performed a systematic review searching Embase Classic + Embase and Ovid MEDLINE for reproductive outcomes for tofacitinib, filgotinib, upadacitininb, and ozanimod. Additionally, we asked the manufacturers for available data on file regarding reproduction. We analysed data from 10 sources; six studies and four manufacturer reports were identified from our search. Significant malformation risks were reported for tofacitinib, filgotinib, upadacitininb, and ozanimod in animal studies. In 126 tofacitinib-exposed pregnancies, there were 55 live births with 2 congenital malformations and 1 serious infant infection, 14 terminations, 15 miscarriages, and 42 outcomes unknown. In 50 filgotinib-exposed pregnancies, there were 20 healthy babies, 1 congenital malformation, 9 terminations, 10 miscarriages, and 10 outcomes unknown. In 78 upadacitinib-exposed pregnancies, there were 30 healthy babies, 15 terminations, 15 miscarriages, and 18 outcomes unknown. In 60 ozanimod-exposed pregnancies, there were 31 live births with 1 congenital malformation, 1 case of intra-uterine growth restriction, 1 case of neonatal icterus, 13 terminations, 9 miscarriages, and 8 unknown outcomes. Animal data suggest significant risks of malformations for tofacitinib, filgotinib, upadacitininb, and ozanimod. Human data from clinical trials and real-world observations do not show concerning data so far, but these are very limited. Currently, alternative treatments should be used for IBD during pregnancy. Full article