Archives of Gynecology and Obstetrics最新文献

Objective

This retrospective study analyzed ultrasound findings, single nucleotide polymorphism microarray (SNP array) results, pregnancy outcomes, and postnatal follow-up data in fetuses with 15q13.3 deletions or duplications.

Methods

Six fetuses were diagnosed with 15q13.3 deletions and nine with 15q13.3 duplications via SNP array at the prenatal diagnosis center of a single tertiary medical center from August 2017 to December 2024. Maternal demographics, ultrasound findings, SNP array results, pregnancy outcomes, and follow-up information were comprehensively reviewed and analyzed.

Results

The deletions sizes in the six deletions ranged from 744 Kb to 1.87 Mb, primarily involving genes such as MTMR15, MTMR10, TRPM1, KLF13, OTUD7A, and CHRNA7. The overlapping region was located between 31.9 Mb and 32.5 Mb. In the nine duplication cases, the fragment sizes ranged from 419 Kb to 2.13 Mb, with overlapping region located between 31.9 Mb and 32.4 Mb. Among the six cases of fetal deletions, three (50.0%, 3/6) exhibited ultrasound abnormalities. The observed ultrasound phenotypes primarily consisted of cardiovascular malformations, lateral ventriculomegaly, intrauterine growth retardation, cleft lip and palate, abnormal finger development, and polyhydramnios. In the nine cases with fetal duplications, four (44.4%, 4/9) showed ultrasound abnormalities, predominantly featuring cardiovascular malformations, corpus callosum hypoplasia, enlarged gallbladder, lateral ventriculomegaly, and increased nuchal translucency. Among the six deletions cases, parental origin testing was conducted for five cases, two were identified as maternally inherited and three were de novo. In the nine duplications cases, eight underwent parental origin testing, with five being inherited (three paternal and two maternal) and two were de novo. Follow-up assessments revealed that the Case 7 showed speech and motor developmental delays. Case 8 experienced seizure at four years of age. At 18 months, Case 13 was diagnosed with bilateral strabismus.

Conclusion

This study conducted a preliminary assessment of the genotype and phenotype of fetuses with 15q13.3 deletions/duplications, expanding the phenotypic spectrum of this syndrome. The study suggests that prenatal 15q13.3 deletions and duplications may be associated with cardiac malformations and lateral ventriculomegaly, but lack phenotype specificity. Moreover, it is essential to closely monitor the neuropsychiatric development postnatally in fetuses with 15q13.3 deletions and duplications that exhibit normal phenotypes during the prenatal period.

Vaginal natural orifice transluminal endoscopic surgery (vNOTES) offers several distinct advantages, including an optimal cosmetic result, early resumption of flatus and a shorter hospital stay. This minimally invasive approach has been increasingly and widely adopted in diverse gynecologic procedures. In this review article, we provide detailed steps for performing myomectomy via vNOTES. In addition, we delve into several specific challenges that need to be addressed. It is suggested that surgeons consider incorporating this technique into their routine practice for the treatment of uterine myomas, as it has the potential to offer significant benefits to patients.

Background

Embryo selection and preimplantation genetic testing (PGT) are used in clinical practice with the aim of improving pregnancy outcomes in patients. However, it remains uncertain whether different PGT techniques improve the live birth rate in patients compared to conventional in vitro fertilization (IVF).

Methods

In this single-center retrospective cohort study, we included couples undergoing their first IVF-assisted conception cycle with only their first single frozen embryo transfer. All couples were fertilized by intracytoplasmic sperm injection (ICSI) and had three or more high-quality blastocysts on the fifth day of embryo culture. The PGT group screened the optimal blastocysts for transfer by their counterpart technique, while the conventional IVF group selected blastocysts based on morphological criteria. Clinicians select different controlled ovarian hyperstimulation protocols and endometrial preparation protocols based on the patient’s individual circumstances. The primary outcome was to observe the live birth rate of first frozen single-embryo transfer in each group.

Results

A total of 409 couples were enrolled in the study, of which 219 were in the PGT group, 87 were PGT-A, 22 were PGT-M, 110 were PGT-SR, and 190 were in the IVF group. The average age of patients in the PGT group was 32.90 years, while 31.53 years in the IVF group. The live birth rate was higher in the PGT group (46.12%) compared to that of the conventional IVF group (34.74%) (p = 0.0195, OR 0.6218, 95% CI 0.4161–0.9189). The live birth rate in the PGT-A subgroup (48.28%) was also higher than that in the IVF group (p = 0.032, OR 0.5703, 95% CI 0.3380–0.9610). Different controlled ovarian hyperstimulation protocols and endometrial preparation protocols had no effect on the live birth rate of PGT.

Conclusion

For first frozen single-embryo transfer, PGT, particularly PGT-A, can improve live birth rates compared to conventional IVF. Different controlled ovarian hyperstimulation protocols and endometrial preparation protocols had no effect on the live birth rate of PGT.

Purpose

To assess the feasibility, safety, and short-term surgical outcomes of mini-laparotomic-assisted laparoscopic radical hysterectomy in the treatment of early-stage cervical cancer. This pilot feasibility case series is the first to provide a detailed description of the technique and its initial clinical results.

Methods

A retrospective case series of seven women with early-stage cervical cancer underwent mini-laparotomic-assisted laparoscopic radical hysterectomy at a single tertiary care center between November 2023 and October 2024. The surgical procedure included laparoscopic pelvic lymphadenectomy, radical hysterectomy, and salpingectomy, followed by colpotomy and uterine extraction through a mini-laparotomy (4–8 cm). Data on baseline characteristics, intraoperative parameters, and postoperative outcomes were collected and analyzed retrospectively.

Results

The median age was 50 years (range 42–76), and the median BMI was 27.9 kg/m² (range 20–43). Histological subtypes included five cases of squamous cell carcinoma, one case of adenocarcinoma, and one case of adenosquamous carcinoma. Pathological staging revealed IB2 in three patients, IA1 in two, and one each for IB1 and IA2. The median operative time was 345 min (range 295–395), and the median estimated blood loss was 500 mL (range 200–700). No intraoperative or postoperative complications were reported.

Conclusion

Mini-laparotomic-assisted laparoscopic radical hysterectomy appears to be a feasible and safe surgical option for early-stage cervical cancer. This technique combines the oncologic rigor of open surgery with the advantages of minimally invasive methods, addressing significant limitations of conventional laparoscopy, including tumor manipulation and intracorporeal colpotomy performed under CO₂ pneumoperitoneum. As the initial report describing this approach, the findings support its potential as an effective alternative to the traditional open radical hysterectomy. Further studies involving larger cohorts and long-term follow-up are needed to validate its oncologic and perioperative benefits.

Objective

Hyperemesis gravidarum (HG) is a severe form of nausea and vomiting during pregnancy that frequently leads to hospitalization and significant maternal morbidity. Despite its clinical significance, the pathogenesis of HG remains poorly understood, with systemic inflammation emerging as a possible contributing factor. The aim of this study was to investigate the role of novel inflammatory markers, including neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), systemic immune-inflammation index (SII), and pan-immune-inflammation value (PIV), in the pathophysiology of HG and their association with disease severity.

Materials and methods

This retrospective case–control study included 259 pregnant women (159 with HG and 100 healthy controls) enrolled in Inonu University School of Medicine between January 2020 and August 2023. Hematologic parameters, including leukocyte, neutrophil, lymphocyte, and platelet counts and ketonuria levels, were collected from electronic medical records. Inflammatory indices (NLR, PLR, SII, and PIV) were calculated and their diagnostic performance was evaluated using receiver-operating characteristic (ROC) curve analysis. Logistic regression was used to assess the risk factors for HG. Statistical analyses were performed using SPSS version 22, with p < 0.05 considered significant.

Results

The HG group had significantly higher NLR (p = 0.004), PLR (p = 0.003), SII (p < 0.001), and PIV (p < 0.001) compared to controls. ROC analysis revealed that NLR [cut-off: 5.67, area under the curve (AUC) 0.608, 95% confidence interval (CI) 0.545–0.668, p = 0.002], PLR (cut-off: 154.5, AUC 0.610, 95% CI 0.547–0.669, p = 0.002), SII (cut-off: 948.4, AUC: 0.636, 95% CI 0.575–0.695, p < 0.001), and PIV (cut-off: 866.51, AUC 0.637, 95% CI 0.575–0.696, p < 0.001) showed moderate diagnostic performance with high specificity (70–94%) but variable sensitivity (25.8–55.3%). Logistic regression identified low gestational age and increased platelet distribution width (PDW) as significant risk factors for HG (p < 0.05), while PIV and other inflammatory markers did not emerge as independent predictors.

Conclusion

This study emphasizes the role of systemic inflammation in HG as evidenced by increased inflammatory indices in HG patients. NLR, PLR, SII, and PIV prove to be promising diagnostic markers for HG and offer high specificity and sensitivity. However, their lack of correlation with ketonuria suggests that inflammation alone cannot fully explain the severity of the disease. These findings highlight the need for further research to validate these markers and explore their potential for the development of personalized treatment strategies for HG.

Purpose

Multicystic dysplastic kidneys (MCDK) are commonly detected on prenatal ultrasound examinations, occurring in 1 in 1,000 to 4,300 live births. This study focuses on neonatal outcomes in fetuses with MCDK, with particular attention to the presence of additional anomalies.

Methods

Retrospective data of fetuses diagnosed with MCDK at Charité University Hospital between 2005 and 2022 were collected and analyzed. Rates of termination of pregnancy (TOP), intrauterine fetal demise (IUFD) and live birth were evaluated. Outcome parameters, including APGAR score, survival, neonatal ventilation therapy or respiratory adjustment disorder, were examined.

Results

A total of 103 fetuses with MCDK were identified. Eight exhibited bilateral MCDK (7.8%). 92.2% showed unilateral MCDK (n = 95), of which 43 revealed additional anomalies (45.3%). Fetuses with additional anomalies displayed significantly fewer live births, more prematurity, lower APGAR scores and lower gestational ages at birth. The expected outcome of fetuses with MCDK is contingent upon the presence of additional anomalies. Bilateral MCDK, as well as unilateral MCDK with additional anomalies, are associated with an unfavorable postnatal outcome.

Conclusion

To consult parents on the potential postnatal well-being of their offspring with MCDK, it is crucial to search for additional anomalies. Genetic counseling and invasive genetic testing should be offered.

Purpose

Polycystic ovary syndrome (PCOS) is associated with a broad range of reproductive, metabolic, and psychosocial symptoms. This study aimed to evaluate whether body mass index (BMI) and dysglycemia independently predict symptom burden and to explore how these factors relate to patient-perceived care gaps, as reflected by satisfaction with counselling.

Methods

We conducted a cross-sectional analysis of 1,926 self-identified women with PCOS. Participants reported symptom prevalence and rated satisfaction with counselling across six clinical domains using a 0–100 scale. Logistic regression models assessed associations between BMI, dysglycemia (prediabetes, gestational diabetes, type 2 diabetes), and PCOS symptoms. Multivariate linear regression was used to identify predictors of satisfaction with counselling.

Results

The most frequently reported symptoms were body image dissatisfaction (78.2%), hirsutism (75.0%), and menstrual irregularity (65.0%). Both higher BMI and dysglycemia were independently associated with increased odds of infertility (BMI: OR 1.48, 95% CI 1.38–1.58, p < 0.001; dysglycemia: OR 1.85, 95% CI 1.50–2.28, p < 0.001), as well as with depression, anxiety, alopecia, and hirsutism (all p < 0.001)Dysglycemia was not significantly associated with acne or menstrual irregularity. Mean satisfaction with PCOS counselling was low (35.1 ± 26.9), with the lowest scores reported for aesthetic concerns (31.4 ± 27.8). In adjusted models, depression, alopecia, body image dissatisfaction, and hirsutism were independently associated with lower satisfaction. BMI and dysglycemia were not independently associated with satisfaction after accounting for symptoms.

Conclusion

While obesity and dysglycemia contribute to increased PCOS symptom burden, they do not explain low satisfaction with care. Perceived care gaps are most pronounced in emotional and aesthetic domains, indicating the need for more holistic, patient-centered PCOS care models.

Purpose

Leiomyosarcoma is characterized by its aggressive behavior, poor prognosis, resistance to chemotherapeutic drugs, and high recurrence rate. This study aimed to identify prognostic factors affecting the effectiveness of cytoreductive surgery (CRS) on overall survival (OS) in patients with recurrent leiomyosarcoma (LMS).

Methods

A retrospective analysis was conducted at Başkent University Ankara Hospital from 2007 to 2016, involving 59 patients with uterine LMS who underwent surgery. We assessed demographic and clinical variables, disease recurrence intervals, and treatment outcomes.

Results

The median age of the patients was 50.0 (23–78) years, and the median follow-up time was 25.0 (2–87) months. Median disease-free survival (DFS) and OS were 15.0 and 37.0 months, respectively. Disease recurrence occurred in 44 patients (74.6%). After recurrence, 34 (77.3%) patients underwent CRS and chemotherapy (CT), while 10 (22.7%) patients received only CT. The median OS was 19.0 months for patients who underwent CRS and received CT and 15.0 months for those who received only CT (p = 0.132). Notably, OS was significantly longer for patients whose recurrence occurred after 6 months compared to those with early recurrence (19 versus 8 months, p = 0.049).

Conclusion

CRS provided a modest survival benefit for patients with recurrent LMS, although statistical significance was not achieved. The results of this study indicate that the timing of recurrence plays a crucial role in survival.

Objective

Laparoscopic sacrocolpopexy (SCP) is considered the gold standard for the correction of middle compartment (apical) prolapse. The extent to which simultaneous correction of the anterior compartment is necessary remains unclear. The aim of this study was to examine the anatomical and functional outcomes of the SCP on the anterior compartment with respect to the correction of central and lateral defects as well as stress urinary incontinence (SUI).

Methods

This was a retrospective clinical follow-up with records of recurrences and complications as well as effects on SUI after laparoscopic SCP with and without simultaneous vaginal correction at Elisabeth Hospital, Essen, Germany, from 2014–2020 in 65 of 86 patients, with an average follow-up of 3.3 years.

Results

Without simultaneous vaginal correction of the anterior compartment, recurrence was more common in women with central defect POP-Q Ba > − 2.0 [4 of 8 patients without correction (50% recurrence) vs. 1 of 23 patients with correction (4% recurrence)]. The OR for recurrence with surgery was 0.05 (95% CI 0.01; 0.52, p < 0,001). In women with lateral defects of the anterior compartment with a POP-Q Ba > − 2.0, simultaneous vaginal correction was not necessary, with a low recurrence rate (1 of 18 recurrences, 6%). Preexisting SUI grade ≥ 1 could be corrected in 27 of 36 patients. (75%, p < 0,001) according to the SCP.

Mesh erosion with reoperation (Clavien–Dindo IIIb) occurred in three patients (4.6%).

Conclusion

Overall, this study suggests that patients with a central defect of the anterior vaginal wall can benefit from additional vaginal correction as part of the SCP. Furthermore, existing incontinence improves with the correction of prolapse.