Clinica e Investigacion en Ginecologia y Obstetricia最新文献

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.

The introduction of ultrasound into the delivery room is a challenge in our speciality. Imaging techniques are increasingly used in obstetrics, and we are familiar with ultrasound management and the study of pelvic and foetal structures. Ultrasound has been introduced into the study of labour for decades, with a large number of high quality research papers published in the literature. Various approaches and measurements have been described, and there are parameters that have been shown to have high evidence of intrapartum usefulness, such as assessment of foetal head position. Furthermore, the inaccuracy and subjectivity of the traditional evaluation of labour progress by digital vaginal examination has been demonstrated. All this leads us to support the promotion and implementation of this ultrasound to complement our knowledge and decision-making in delivery. The aim of this review is to describe the appropriate method for this ultrasound evaluation and its main applications in labour.

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.

Evaluation of the fetal heart is an integral part of prenatal care. Congenital heart defects (CHDs) are the most common major congenital anomalies, affecting approximately 0.8–1% of live births. Screening for CHDs has shown to improve perinatal outcomes. The performance of screening programs lies, among others, in the systematization of the sonographic evaluation. This review aims to outline the technique for conducting a basic fetal cardiac examination as well as to report the main indications for referral for advanced echocardiography and succinctly describe the technique for advanced echocardiography and first-trimester evaluation of the fetal heart.

Introduction

Shoulder dystocia (SD) is an emergency with risks for mother and newborn. The training of professionals in its resolution is essential to reduce morbidity and mortality and simulation is considered a useful strategy to improve the training of obstetric teams. The aim of this study was to determine the training status of obstetric interprofessional teams in the resolution of shoulder dystocia in hospitals belonging to the Spanish Obstetric Safety Group (GESO).

Materials and methods

A specific survey was carried out between June and December 2023 in hospitals belonging to the GESO group to assess training in SD, addressing protocols, case registry and training programs.

Results

Of the 71 hospitals surveyed, 94,4% responded. These hospitals, mostly public (88%) performed 121,141 deliveries during 2022, representing 37,5% of births in Spain. The incidence of SD was 1.79% and the incidence of obstetric brachial palsy at discharge was 1,08/1000 vaginal deliveries. Regarding the management of SD, 85,1% of the hospitals follow a specific protocol and 88,1% record these cases. Regarding simulation training, 55,2% have programs, 35% of which are voluntary and annual, 5.4% are mandatory and biannual and 2.7% are mandatory and annual. 73,1% have accredited instructors (219 in total between midwives and obstetricians) and 85,1% have their own simulators.

Conclusion

The survey has revealed hitherto unavailable information on the training of obstetric teams and on the frequency and management of SD. Protocols exist in practically all the hospitals surveyed and the number of available SD simulation instructors in the country is noteworthy. Nevertheless, current training programs have room for improvement in order to meet international standards.

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.

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.

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.