Taiwanese Journal of Obstetrics & Gynecology最新文献

Genetic counseling of mosaicism for a deletion due to partial monosomy in a cell line with 46 chromosomes associated with a normal cell line at amniocentesis remains difficult because mosaic deletion due to partial monosomy has been reported to be associated with either normal or abnormal phenotype in prenatal diagnosis. This article makes a comprehensive review of the reported cases of mosaicism for a deletion due to partial monosomy in a cell line with 46 chromosomes associated with a normal cell line at amniocentesis and various counseling issues such as culture artefact, cytogenetic discrepancy between cultured and uncultured amniocytes and among various tissues, perinatal progressive decrease of the abnormal cell line and a possible favorable fetal outcome. The information provided is useful for obstetricians and genetic counselors during genetic counseling of the parents who wish to keep the babies under such a circumstance.

Objective

We present mosaic distal 13q duplication due to mosaic unbalanced translocation 46,XY,der(14)t(13;14)(q32.2;p13)/46,XY at amniocentesis in a pregnancy associated with a favorable fetal outcome.

Case report

A 37-year-old, gravida 2, para 0, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XY, add(14) (p13)[17]/46,XY[13] (56.6% mosaicism). Array comparative genomic hybridization (aCGH) analysis on the DNA extracted from cultured amniocytes revealed arr 13q32.2q34 × 2∼3, consistent with 45% mosaicism for distal 13q duplication. Repeat amniocentesis at 24 weeks of gestation revealed a karyotype of 46,XY,der(14)t(13;14)(q32.2;p13)[14]/46,XY[16] (46.6% mosaicism). The parental karyotypes were normal. aCGH analysis on the DNA extracted from uncultured amniocytes revealed arr 13q32.2q34 × 2.38, consistent with 30–40% mosaicism for distal 13q duplication. Interphase fluorescence in situ hybridization (FISH) analysis on uncultured amniocytes detected 22.8% (23/101 cells) mosaicism for distal 13q duplication. Prenatal ultrasound findings were unremarkable. At 39 weeks of gestation, a 3616-g phenotypically normal baby was delivered. The karyotypes of cord blood, umbilical cord and placenta were 46,XY,der(14)t(13;14)(q32.2;p13)[20]/46,XY[20] (50% mosaicism), 46,XY,der(14)t(13;14)(q32.2;p13)[14]/46,XY[26] (35% mosaicism) and 46,XY (40/40 cells) (0% mosaicism), respectively. When follow-ups at the age of 4½ months and the age of one year, the peripheral blood had the karyotype of 46,XY,der(14)t(13;14)(q32.2;p13)[18]/46,XY[22] (45% mosaicism). Interphase FISH analysis on buccal mucosal cells at the age of 4½ months revealed 2.7% (3/110 cells) mosaicism for distal 13q duplication, compared with 1% (1/100 cells) in the normal control. The neonate was normal in phenotype and development.

Conclusions

Mosaic unbalanced translocation at amniocentesis can be associated with a favorable fetal outcome, perinatal progressive decrease of the aneuploid cell line and cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes.

Objective

Endometrial cancer (EC) is the most common gynecological malignancy in high-income countries. In Taiwan, the incidence of EC increased from 1.69 in 1980 to 11.36 per 100,000 women/year in 2010. Therefore, we aimed to study the prognostic factors and survival of patients with EC in southern Taiwan.

Materials and methods

This study included patients with EC who underwent hysterectomy-based surgery at our hospital between 2010 and 2020. The primary outcome was 5-year progression-free survival (PFS) and overall survival (OS) of patients diagnosed with EC. The secondary outcome was the prognostic factors associated with 5-year PFS and OS in patients with EC. We used the chi-square test to assess categorical variables and the independent t-test to assess continuous variables. The Kaplan–Meier method was used to estimate survival outcomes. Cox regression analysis was conducted to examine the factors associated with PFS and OS.

Results

A total of 133 patients were enrolled in this study. The mean age of the patients was 56.5 ± 10.71 years. The mean body mass index was 26.4 ± 5.21 kg/m². The 5-year PFS and OS were 90.3% and 94.53%, respectively. In terms of PFS, endometrioid histology was linked to more favorable outcomes (hazard ratio [HR] = 0.02, 95% confidence interval [CI]:0.001–0.59), while lymph-vascular space invasion (LVSI) was associated with adverse results (HR = 9.11, 95% CI: 1.07–77.44). Initial analyses revealed no significant correlations between OS and various factors, including age, BMI, parity, DM, hypertension, age at last birth, and tumor grade. However, univariate analysis found grade 3 tumor differentiation, LVSI, and lymph node invasion associated with poorer OS. Laparoscopy was associated with better OS. Nevertheless, subsequent multivariate analysis did not reveal any factor significantly associated with OS. Most patients with EC (76.69%) underwent laparoscopic surgery.

Conclusion

In conclusion, endometrioid histology was linked to more favorable PFS, while LVSI was related to adverse PFS. Our study did not identify any factors associated with OS. Two-thirds of the patients underwent minimally invasive surgery.

The current review described a 55-year woman using 28 months to finish her surgery-based radiation-free multimodality treatment journey to fight International Federation of Gynaecology & Obstetrics (FIGO) 2018 clinical stage IIA2 (cT2aN0M0) squamous cell carcinoma (SCC) of the cervix. She received six cycles of perioperative adjuvant therapy, including three cycles of neoadjuvant therapy (NAT) and three cycles of postoperative adjuvant therapy by using combination of dose-dense chemotherapy (CT, weekly paclitaxel 80 mg/m²+triweekly cisplatin 40 mg/m²), immunotherapy (IO, triweekly pembrolizumab 200 mg) and half-dose anti-angiogenic agent (triweekly bevacizumab 7.5 mg/kg) plus interval radical surgery (radical hysterectomy + bilateral salpingo-oophorectomy + bilateral pelvic lymph node dissection + para-aortic lymph node sampling) and following maintenance therapy with monthly 22 cycles of half-dose of IO (pembrolizumab 100 mg) and concomitant 4 cycles of single-agent CT (paclitaxel 175 mg/m²) and 18 cycles of half-dose anti-angiogenic agent (bevacizumab 7.5 mg/kg). During the cervical SCC fighting journey, two unwanted adverse events (AEs) occurred. One was pseudo-progressive disease during the NAT treatment and pathology-confirmed upgrading FIGO stage IIIC1p (ypT2a1N1M0) after radical surgery and the other was the occurrence of hypothyroidism during the post operative adjuvant therapy. Based on this case we presented, we review the recent trend in the management of women with locally advanced cervical cancer (LACC) using the radiation-free but surgery-based multimodality strategy and highlight the strengths and limitations about perioperative adjuvant therapy with dose-dense CT + IO + half-dose anti-angiogenic agent and maintenance treatment of half-dose IO combining with short-term single agent CT and following long-term half-dose anti-angiogenic agent. All underscore the possibility that women with LACC have an opportunity to receive surgery-based RT-free multi-modality strategy to manage their diseases with satisfactory results. Additionally, the evolving role of IO plus CT with/without anti-angiogenic agent functioning as either primary treatment or adjuvant therapy for the treatment of advanced CC has been in process continuously. Moreover, the patient's positive response to IO, pembrolizumab as an example, both during the primary and maintenance therapy, highlights the importance of integrating IO into CT regimens for CC, especially in cases where conventional therapies, RT as an example, are insufficient or who do not want to receive RT-based treatment. The sustained disease-free status of the patient over several years reinforces the potential of IO to significantly increase long-term survival outcomes in CC patients, particularly for those with LACC.

Worldwide, preterm birth (PTB) is a significant cause of neonatal mortality and morbidity. Surprisingly, the rate of PTB in the United States is among the top 10 nations in the world, comparable to those of the Democratic Republic of the Congo, Bangladesh, India, and Nigeria. However, there is no predictive biomarker or understanding of the mechanisms of PTB. Recent evidence suggests that the vaginal microbiome can be clustered into Community State Types (CST) and is altered in various obstetrical syndromes. The review aimed to summarize multiple studies on the vaginal microbiome and PTB and identify a particular microbe or CST associated with PTB. We hypothesized that there exists a specific microorganism that, when dominant within the vaginal microbiome, is protective against PTB. We hypothesized that the absence of a particular microbe or CST is a risk factor for PTB. To answer this question, we reviewed the current literature aiming to identify such a microorganism or a group of microorganisms. Our results indicate that no particular microbe or CST can be implicated in PTB. However, the review suggests that an increase in alpha and beta diversity of the vaginal microbiome can be predictive and involved in the pathogenesis of PTB.

Objective

Low Maximal Urethral Closure Pressure (MUCP) is linked to unfavourable outcome of anti-incontinence surgery, however the cut-off value varied within studies. This study aimed to predict the cut-off value of MUCP that contributes to poor outcome of Mid-Urethral Sling (MUS) surgery in Urinary Stress Incontinence (USI) patients.

Materials and methods

Records of 729 women underwent MUS procedure from January 2004 to April 2017 reviewed. Patients were divided into four MUCP groups, which were <20 cmH2O (≥20 and < 40) cmH2O (≥40 and ≤ 60) cmH2O and >60 cmH2O. Objective evaluation comprising 72-h voiding diary, multichannel urodynamic study (UDS) and post-operative bladder neck angle measurement. Subjective evaluation through validated urinary symptoms questionnaires. Primary outcome was objective cure rate of negative urine leak on provocative filling cystometry and 1-h pad test weight <2 g, and subjective cure rate was negative response to question 3 of UDI-6. Secondary outcome was identifying risk factors of cure failure for MUS in low MUCP groups. To identify the risk factors of cure failure, MUCP groups were narrowed down into <40 cmH2O or ≥40 cmH2O.

Results

Total of 688 women evaluated. Overall objective cure rate was 88.2% with subjective cure rate of 85.9%. Objective and subjective cure rates were lower in groups with low MUCP <40 cmH2O. Failure of MUS correlate significantly in patients with low MUCP <40 cmH20, bladder neck angle <30° and Functional urethral length (FUL) < 2 cm.

Conclusion

Women with MUCP <40cmH2O, bladder neck angle <30° and FUL < 2 cm are more likely to have unfavorable outcome following MUS surgery. We proposed the cut-off low MUCP <40cmH2O as predictor for fail MUS surgery in SUI patients.

Objective

Mitotically active cellular fibroma (MACF) of the ovary, characterized by relatively high mitotic activity without severe atypia, was first described in the WHO classification in 2014. However, due to its rarity, the clinicopathological characteristics of ovarian MACF have not been established. This study was performed to describe the clinical, radiological, and pathological features of MACF by analyzing 11 cases of ovarian MACF.

Materials and methods

Between 2015 and 2022, 11 patients with ovarian MACFs underwent surgical treatment at our institution. Clinicopathologic data of the patients were retrospectively reviewed from their medical records.

Results

Median patient age was 53.7 years (range 21–77 years), and median tumor diameter was 7.8 cm (range 4.3–14.0 cm). Preoperative CA125 was elevated in 4 cases. Four of the eleven patients had abdominal pain, and two presented with vulvar pain or a palpable abdominal mass, respectively. Preoperative radiological impressions included fibroma, fibrothecoma, stromal tumor, and cystadenocarcinoma. A laparoscopic approach was adopted in 7 cases (64%). Intraoperative frozen section was performed in 5 patients, and all demonstrated the presence of a benign, fibromatous stromal tumor. Three patients underwent fertility-sparing surgery, including laparoscopic ovarian cystectomy and unilateral salpingo-oophorectomy. Median follow-up was 37.7 months (range 2–84 months), and no patient experienced disease relapse or died of their disease.

Conclusion

This study shows that ovarian MACF has a benign clinical course. Fertility-sparing surgery provides a safe therapeutic option for MACF, which can be managed safely by laparoscopy. Imaging findings and final pathological diagnosis were not well matched. Intraoperative frozen section is important for determining surgical extent in mitotically active cellular fibroma of the ovary.