Clinica e Investigacion en Ginecologia y Obstetricia最新文献

Introduction

Meigs syndrome is an underdiagnosed pathology and should be suspected in the presence of an ovarian tumor associated with pleural and peritoneal effusion. In addition, it usually presents elevation of the tumor marker CA-125. All these clinical and analytical parameters improve after surgical removal of the tumor. Most cases are associated with benign ovarian tumors (fibroids). When it is associated with another type of ovarian/uterine tumor, whether benign or malignant, it is called «Pseudo Meigs Syndrome.» The diagnostic confirmation of the tumor will be histological.

Main symptoms and/or clinical findings

The clinical case of a patient is presented, in which a uterine tumor is observed that produces repetitive vasovagal syncope due to compression of pelvic organs, associated with right pleural effusion and ascites with mild-moderate elevation of CA-125.

Main diagnoses

The main suspected diagnosis is Pseudo-Meigs syndrome, due to the association of a uterine tumor with pleural effusion and ascites.

Therapeutic interventions and results

After resection of the tumor, which turned out to be a uterine leiomyoma, both effusions resolved and the tumor marker CA-125 normalized, corresponding to Pseudo Meigs Syndrome.

Conclusion

In the differential diagnosis of a pleural effusion associated with ascites, the presence of an ovarian/uterine tumor must be ruled out, since, if observed, we could be dealing with Meigs/Pseudo Meigs Syndrome; which will be confirmed by the disappearance of the pleural effusion, ascites and normalization of the CA-125 marker after surgical resection of the tumor and which represents its resolution.

Fertility preservation for social or non medical reasons is one of the reproductive treatments that has experienced the greatest increase in demand in recent years. The impact of age on a woman's ovarian reserve and oocyte quality is well known. This negatively impacts the rates of spontaneous pregnancy, risk of aneuploidy, miscarriage, and maternal and fetal complications.

Oocyte cryopreservation, carried out mainly by a healthy population, aims to mitigate the impact of age on ovarian aging and future chances of pregnancy, although it does not exempt itself from other negative consequences from the maternal and fetal health perspective, due to a delay in motherhood.

This manuscript aims to review the egg freezing treatment in terms of efficacy, safety and cost-effectiveness, since the increase in demand is an indirect reaction to a change in social trend and an increase in women who decide to postpone their motherhood, especially due to the absence of a partner.

It also emphasizes the ethical aspects of a treatment that only a minority of the population can benefit from due to its private access in most cases. This encounters certain limitations, especially for women who, despite having a good reproductive prognosis due to age, could already be in a situation of premature ovarian insufficiency.

Fetal cardiac evaluation in the first trimester should be evaluated systematically: 1st. Heart rate. 2nd. Situs. 3rd. Cardiac axis. 4th. 4 chamber view. 5th. Outflow tract. Although its mandatory visualization is a matter of controversy and would bring us closer to a maximum protocol, current technology allows it in most cases, either directly or indirectly thanks to the three-vessel view and facilitated by the systematic use of the Color Doppler. There is evidence of its importance in contributing to increasing detection rate. We must recommend attempting its systematic evaluation, although it is difficult to consider it mandatory.

Perivascular epithelioid cell tumors (PEComa) are rare mesenchymal neoplasms composed by perivascular epithelioid cells that express melanocytic and smooth muscle markers. Most cases are benign, but a small group behaves malignantly. Unfortunately, as they dońt appear frequently, reliable criteria to predict malignancy have not yet been established. The PEComas of the female genital tract represent approximately 25% of the PEComas reported in the literature and the most common site of appearance is in the uterine body; less common sites include the cervix, the ovaries, the fallopian tubes, the vagina/vulva or the round or broad ligament. Uterine PEComas are not distinguishable from other uterine tumors, such as leiomyoma and leiomyosarcoma, before an anatomopathological diagnosis is made. Surgery is the most recommended primary treatment, although adjunctive therapy is generally reserved for high-risk cases. However, the best approach is not well established due to the shortage of cases described until now.

This methodical review aims to summarize, according to of current literature, what is known about the etiopathogenesis, clinical and pathological characteristics of PEComas, focusing on the approach to gynecological cases.

Background

The non-invasive prenatal test (NIPT) is a screening test that allows for conducting a screening of major chromosomal abnormalities in the fetus during pregnancy using maternal blood. In February 2019, NIPT was included as part of the prenatal diagnosis for genetic anomalies during the first trimester of pregnancy by the Public Health System of the Valencian Community.

The objective is to assess the diagnostic and economic performance of NIPT in pregnant women within our Department since its implementation.

Methods

A retrospective observational study was conducted, analyzing NIPT performed since its integration into the screening for chromosomal abnormalities in pregnant women within our department. The analysis includes the number of invasive tests conducted, improvements in the detection of studied chromosomal abnormalities, and the economic feasibility in comparison to invasive testing.

Results

A total of 4719 combined first and second-trimester screenings were conducted with a population coverage of 98%, of which TPNI was indicated in 337 patients. Aneuploidies were detected in 4 patients: two cases of Down syndrome, one case of Patau syndrome, and one case of Turner syndrome, with the first three confirmed and the latter resulting in a false positive. The sensitivity obtained was 100%, and the specificity was 99% (95% CI). The economic savings amounted to €52,035.90.

Conclusions

TPNI is a highly sensitive test with high specificity. Since its incorporation into the screening for aneuploidies in pregnant women, the performance of invasive tests has been reduced, resulting in a corresponding decrease in the risk of fetal loss and significant economic savings.

Preeclampsia is a gestational disorder that associates arterial hypertension and organic disfunction and can have adverse consequence to both mother and fetus in the short term. The main factor implicated in its pathogenesis is an anormal placentation leading to endothelial dysfunction, as well as to the dysregulation of physiological pathways. Last evidence suggests that preeclampsia can also lead to long-terms outcomes, such an increase incidence of chronic disease, renal dysfunction and increased cardiovascular risk. This paper reviews the long-term cardiovascular consequences, their pathogenesis and the implications for clinical practice.

Introduction

Joubert syndrome and related disorders constitute an autosomal recessive hereditary disease, whose incidence is estimated at one case per 80,000 to 100,000 live births. It represents a developmental delay secondary to multiple congenital abnormalities, predominantly cerebellar and brainstem.

Clinical findings

A 37-year-old pregnant woman with an intermediate risk result in the first trimester chromosome screening. Finding in the second trimester obstetric ultrasound, absence of inferior cerebellar vermis, dysplasia of the superior vermis, vertical disposition of both cerebellar hemispheres and horizontal superior cerebellar peduncles. In the fetal resonance the presence of the «Molar tooth sign» is confirmed.

Main diagnoses

Cystic anomalies of the posterior fossa, specifically the Dandy-Walker malformation and Joubert syndrome.

Therapeutic interventions and results

Genetic study after amniocentesis, QF-PCR, Arrays CGH, without pathological findings and normal fetal karyotype of 46 XX. Confirmation was achieved by massive sequencing of 13 genes related to Joubert syndrome, evidencing the existence of 2 heterozygous pathogenic variants of the CPLANE1 gene, each one from a parent.

Conclusion

Joubert Syndrome represents a challenge within prenatal diagnosis, due to its heterogeneous clinical, phenotypic and genetic presentation. This work presents the diagnostic complexity and contributes to the literature another case that allows to improve its future diagnosis.

Introduction

Gynecological carcinosarcoma, also called malignant mixed Müllerian tumor, is a rare, heterogeneous, aggressive, malignant neoplasm. The vagina as a primary site of carcinosarcoma is exceptional.

Main symptoms and/or clinical findings

95-year-old woman who consulted for vaginal bleeding. The gynecological examination revealed a polypoid tumor dependent on the right lateral wall of the vagina.

Main diagnoses, therapeutic interventions and results The CT radiological study identified a tumor measuring 6 × 3,4 × 3,5 cm, which occupied the lower third of the vagina. The polypoid mass was excised in fragments, with resection of its base in the right medial 1/3 of the vagina. The histological study corresponded to a malignant spindle-cell neoplasm with areas of high cell density, intersecting fascicles and multiple edematous areas, with spindle-shaped or stellate-shaped cells with intense nuclear atypia and monstrous bizarre cells. Chondroid-like or myxoid appearance foci, frequent atypical multinucleated giant tumor cells, mitosis and some foci with evident epithelial differentiation in the form of poorly differentiated carcinoma were observed. The diagnosis was carcinosarcoma. Considering the patient's age, it was decided to perform follow-up without further interventions. Currently, one year after diagnosis, the patient has no evidence of recurrence.

Conclusion

Primary malignant neoplasms of the vagina are very rare. Vaginal carcinosarcoma is an extremely rare neoplasm that occurs in elderly women. The prognosis is poor and more studies are needed to better understand this neoplasm.

Objective

The present study investigated the predictors of single-dose (50 mg/m²) methotrexate (MTX) treatment success in ectopic pregnancies.

Method

A retrospective cohort study was conducted using information databases from a single academic tertiary care hospital among 396 participants referred for treatment of ectopic pregnancy (EP). Data were collected on age, history of EP, basal level of β-hCG, features of vaginal ultrasound (left or right), mass size, presence of hematoma around the mass and free pelvic fluid, and demand of subsequent doses of MTX or surgery. The patients were divided into success and failure groups based on whether they were treated with a single-dose of methotrexate (single dose MTX), or required subsequent doses of MTX or surgery.

Results

The success rate of single-dose MTX treatment was approximately 74%. The failure chance was significantly higher in right adnexal masses (OR: 3.45), history of EP (OR: 28.19), presence of hematoma on ultrasound (OR: 26.69), and serum β-hCG > 719 mIu/ml (OR: 5.19). A mass size > 19 mm was associated with a 79% increased chance of failure (p = 0.10). These variables accounted for approximately 45–66% of the failure variance for single-dose MTX treatment. Based on ROC curve analysis, initial β-hCG level of 719 mIu/ml was the best cutoff for patients with EP (with a sensitivity of 82% and specificity of 63%).

Conclusion

The treatment outcome of single dose MTX can be successfully predicted based on the previous history of EP, the presence of hematoma on ultrasound, mass location, and measurement of β-hCG levels before treatment.

Introduction

Malaria presents a significant challenge during pregnancy, even in non-endemic environments like Spain. Pregnant women face severe complications due to placental parasite accumulation, leading to conditions such as severe anemia, miscarriage, intrauterine growth restriction, and perinatal death. In this article, we present a clinical case illustrating the complexities and successful management strategies of malaria during pregnancy in a non-endemic setting.

Major symptoms and clinical findings

A 37-week pregnant woman from Equatorial Guinea presents with fever and hemoptoic sputum. Laboratory analysis reveals severe thrombocytopenia, anemia, and hyperbilirubinemia, prompting suspicion of malaria.

Major diagnoses, therapeutic interventions and outcomes

P. falciparum antigen is detected in the blood, meeting criteria for severe malaria based on clinical and analytical findings. Treatment with intravenous artesunate results in rapid parasitemia reduction. On the second day, the patient enters labor and undergoes a eutocic delivery, giving birth to a healthy baby girl with negative P. falciparum antigen. Parasites are found in the placental intervillous space upon analysis. Postpartum oral therapy with dihydroartemisinin-piperaquine proceeds without incident. Discharge occurs three days later.

Conclusions

Effective management of malaria during pregnancy requires early suspicion, a multidisciplinary approach, and targeted treatment to optimize maternal-fetal outcomes. Vaginal birth at term is recommended to mitigate perinatal complications and promote maternal recovery. Oral dihydroartemisinin-piperaquine therapy emerges as a promising option for postpartum preventive treatment, yielding favorable short- and long-term results.