Clinica e Investigacion en Ginecologia y Obstetricia最新文献

Introduction

Silver-Russell syndrome is a congenital disorder that causes prenatal and postnatal growth restriction, relative macrocephaly, prominent forehead, triangular facies, clinodactyly, body asymmetry, severe feeding difficulties, and low body mass index. The most common underlying mechanisms are hypomethylation of the paternal allele at the imprinting control region 1 (ICR 1) located at 11p15.5 (seen in 50% of patients) and maternal uniparental disomy for chromosome 7 (seen in 7%–10% of patients).

Clinical findings

We present the case of a 29-year-old pregnant woman with low risk for chromosomal abnormalities at the first trimester screening. The 20-week ultrasound shows early intrauterine growth restriction (IUGR). We performed an amniocentesis with normal QF-PCR, foetal karyotype and array-CGH. Intrauterine growth restriction Type I persists at 31 + 4 weeks with estimated foetal weight, abdominal circumference, and femur length below the 1^st centile. The biparietal diameter and head circumference centiles were normal. Prominent forehead, small face, and fifth finger clinodactyly of right hand were detected. At 37 weeks, a boy weighing 1,410 g was born by caesarean section.

Diagnosis, therapeutic intervention, and results

Physical examination revealed a peculiar phenotype suggestive of Silver-Russell syndrome. The genetic study confirmed hypomethylation of ICR1 in the 11p15.5 region. Prenatal ultrasound images are shown.

Conclusions

It is important to diagnose this entity and determine genotype-phenotype correlations in order to provide the best therapeutic options, ensure adequate follow-up, and offer timely family genetic counselling.

Maternal perception of fetal movements is a subjective indicator of fetal well-being. Pregnant women's awareness of their importance remains a subject of discussion because they can increase maternal anxiety and lead to an increase in consultations about their reduction. Quantitative methods have classically been used for self-assessment, although a new qualitative method called mindfetalness has recently been proposed. Its practice has been shown to promote a better relationship with the fetus and to strengthen the maternal-fetal bond, with pregnant women preferring it to classical methods. Although consultations may increase due to decreased fetal movements, the rate of caesarean section, induction of labour, and newborns with low weight for gestational age decreases, resulting in improved maternal, fetal, and newborn management compared to not reporting fetal movements. It has been shown that pregnant women of lower sociocultural status have worse pregnancy outcomes despite its use. There may be other benefits of practicing mindfetalness such as decreased use of epidural analgesia and improved professional pregnancy care.

Introduction

We retrospectively reviewed a case of a 42-year-old woman with intravenous leiomyomatosis.

Clinical findings

The present study describes a case of IVL extending into the right internal and common iliac veins.

Diagnosis

The patient was diagnosed by definitive pathological examination after a hysterectomy and double salpingectomy. Hypovolaemic shock due to delayed intraperitoneal bleeding from the ovarian vessels pedicle was observed. An emergent laparotomy for haemostasis was performed. A follow-up MRI, 2 months later, showed a polylobulated mass extending inside the right internal and common iliac veins.

Intervention and result

The patient underwent a third laparotomic procedure with the removal of the right pelvic mass together with the involved veins. The postoperative course was uneventful, and the patient remains well at 3-month follow-up, with no signs of lower limb edema or venous disorders.

Conclusion

Intracardiac leiomyomatosis is mostly diagnosed in premenopausal women. The most severe manifestation could be a vascular thrombosis or a right atrial tumor in the case of intracardiac involvement. Early and appropriate diagnosis is essential for optimal treatment. Surgery is the best treatment.

The goal of treating fibroids is symptom control, reversing anaemia (if present), and restoring quality of life. In the event of future reproductive desire, the objective is also to achieve anatomical restoration of the uterus, fundamentally with regard to the uterine cavity.

Prophylactic treatment to prevent future complications of fibroids is not recommended with a few exceptions, such as women with hysteroscopically resectable submucosal fibroids who wish to become pregnant or women with large fibroid uteri with lateral extension causing ureteral compression and moderate or severe hydronephrosis.

There is a broad consensus that the approach to this pathology should be patient-centred, with shared decision-making based on adequate information, meeting the short and long-term objectives of the woman. The information offered must cover all possible options and the risk/benefit balance of each. All the available options have proven efficacy, but we do not have quality studies comparing the options.

Presently available medical treatment options and emerging options are discussed in this article.

Introduction

Frasier syndrome is a genetic disorder produced by a mutation in intron 9 of the WT1 gene, responsible for renal and genital dysfunctions.

Clinical findings

It is characterized by discrepancy between the individual karyotype and the individual phenotype and corticosteroid-resistant nephrotic syndrome due to focal segmental glomerulosclerosis. Patients usually have a female phenotype with a 46 XY karyotype, which increases the risk of gonadoblastoma in 50% of cases. Kidney disease requires kidney transplantation in adulthood. Cardiovascular and bone-derived comorbidities such as hyperlipidaemia and osteopenia/osteoporosis, respectively, are also common.

Main diagnoses

Mutations of the WT1 gene can lead to different clinical entities, most notably Denysh-Drash syndrome, Frasier syndrome, or isolated focal segmental glomerulosclerosis. We present a clinical case of a woman who debuted in childhood with difficult-to-control nephrotic syndrome, the lack of pubertal development, primary amenorrhoea and the absence of ovaries on imaging tests in adolescence, alerted to an underlying genetic problem that, after cytogenetic studies, allowed a diagnosis of Frasier syndrome.

Therapeutic interventions

It is recommended to remove the gonads due to increased risk of developing gonadoblastoma. Treatment of associated dyslipidaemia and osteopenia is also necessary.

Conclusion

Frasier syndrome is an unusual cause of infertility due to gonadal dysgenesis and is associated with kidney problems.

To review the most current literature on the aetiopathogenesis and classification of abnormalities of sexual differentiation, as well as prenatal genital development. A literature search through PubMed, MedLine, Embase, BioMed Central, and SciELO databases was conducted.

Abnormalities of sexual differentiation comprise a wide spectrum of diseases that can develop at different stages of life. These anomalies require complex evaluation by a multidisciplinary team in which the obstetrician plays a fundamental role in prenatal diagnosis. Discrepancy between the genetic sex determined by non-invasive prenatal testing and the phenotypic sex observed by ultrasound is an increasingly frequent finding, with an incidence of 1 in 1,500-2,000 pregnancies. Early detection of this discrepancy can guide clinical suspicion and improve the management of different sexual developmental anomalies from the prenatal period.

Introduction

Primary hypothyroidism has adverse effects on maternal and fetal outcomes. In the scenario of severe preeclampsia (SP), the impact on the binomial may be greater.

Objective

To compare maternal and fetal outcomes in patients with SP and primary hypothyroidism.

Material and methods

This was a case-control study in 58 pregnant patients with SP admitted to the Intensive Care Unit of a High Specialty Unit in Mexico City attended from January 2018 to December 2021. The case group was formed with 29 patients with pre-pregnancy primary hypothyroidism and the control group with 29 age-matched patients with normal pre-pregnancy thyroid function. Their overall data and maternal and fetal outcomes were compared. Descriptive statistics, chi-square test, and Student's t-test with the SPSS version 20 programme were used. A p-value< 0.05 was significant.

Results

No differences were found in age (p = .8292), parity (p = 1), systolic (p = .7229) and diastolic (p = .5498) blood pressure, caesarean section (p = .812), intrapartum haemorrhage (p = .812), p = .3558), anaesthetic technique (p = .5786), obstetric complications, Intensive Care Unit stay (p = .6181), and mortality. There were no differences in the products: singleton pregnancy (p = .912), gestational age (p = .8901), weight (p = .3338), Apgar score minute one and five, prematurity (p = .8701), intensive care (p = .0623), in utero mortality (n = 4 vs n = 4), and mortality at birth (n = 2 vs n = 0).

Conclusions

Maternal and fetal outcomes were similar. The cases with uncontrolled thyroid did not show adverse clinical effects.

Uterine fibroids are the most common tumour in reproductive age and have a negative impact on the quality of life of patients. Cases must be treated on an individual basis. Uterine artery embolization is a minimally invasive, safe, effective treatment with a low rate of complications when used as a treatment for symptomatic fibroids. The objective of this article is to conduct a comprehensive literature review on the current status of uterine artery embolization in the treatment of fibroids, including preliminary considerations on technical approaches and case selection clinical outcomes compared with other treatment options, and outcomes in terms of quality of life and fertility.

Introduction

Invasive prenatal diagnostic techniques allow us to conduct genetic tests. The development of non-invasive techniques has reduced their use. The foetal loss rate following an invasive procedure is considered to be around 1%. The published data is heterogeneous however, although everything indicates that the risk has been overestimated, we need to conduct further studies.

Material and methods

In our single-centre retrospective study we analysed the procedures carried out using invasive prenatal diagnostic techniques between 2011 and 2019. A total of 832 invasive techniques were performed. Perinatal results are compared with a control group of pregnant women (n = 1734).

Results

The early foetal loss rate for the different techniques were 1.1% for amniocentesis, 1.6% for transvaginal chorionic biopsy and 5% for abdominal chorionic biopsy, with a total rate of 1.1%, without statistically significant differences between them (P = .57). We found differences in foetal outcome, in terms of variable early foetal loss, related to the attempts made (when three attempts were made, the risk increased). When comparing the perinatal outcomes after delivery of the group that underwent techniques with the control group, a higher rate of caesarean sections was found in the study group (28.9% vs 20.5%), in addition to lower mean gestational age at delivery (38.33 vs. 38.95 weeks).

Discussion

When the invasive technique is performed at the right time and with no more than two attempts, we consider that the risk of foetal loss is not affected, and is equal to that of the general population.