Development of Diagnosis and Treatment Modalities in Obstetrics and Gynecology

Background/Objective: Prenatal cytogenetic testing is essential for pregnant women who are at high risk of having a child with a chromosomal abnormality. While conventional karyotyping detects large aneuploidies and structural rearrangements (>5–10 Mb), chromosomal microarray analysis (CMA) identifies smaller copy number variants (CNVs), increasing the diagnostic yield by approximately 5%. CMA is now recommended as the first-line test for evaluating fetal structural anomalies that are detected by ultrasound. Method: From March 2023 to September 2024, we analyzed 344 prenatal samples using conventional karyotyping and SNP-based CMA. Karyotyping was performed via flask culture, and CMA was conducted using the Infinium Global Screening Array Cyto (GSA-Cyto) on the Illumina iScan platform. We interpreted the CNVs using NxClinical v6.0 and curated databases including ClinVar, DECIPHER, OMIM, and ClinGen, among others. Our results aligned with the GRCh37/hg19 reference genome. Results: Chromosomal abnormalities were identified in 57/344 cases (16.5%). Of these, 39 cases were numerical chromosomal anomalies, and 18 cases were pathogenic or likely pathogenic CNVs. Notably, 11 CNVs (3.2%) were undetectable by conventional karyotyping, emphasizing the added value of CMA. Conclusions: CMA enhances the prenatal diagnostic accuracy by detecting submicroscopic CNVs that are not visible with conventional methods, supporting the routine use of this analysis in prenatal genetic evaluation. Full article

Background: A short cervix in the second trimester significantly increases preterm birth risk, yet no reliable first-trimester prediction method exists. Current guidelines lack consensus on which women should undergo transvaginal ultrasound (TVUS) screening for cost-effective prevention. Therefore, it is vital to establish a highly accurate and economical method for use in the early stages of pregnancy to predict short cervix in mid-pregnancy. Methods: A total of 1480 pregnant women with singleton pregnancies and at least one risk factor for spontaneous preterm birth (<37 weeks) were recruited from January 2020 to December 2020 at the Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine. Cervical length was assessed at 20–24 weeks of gestation, with a short cervix defined as <25 mm. Feature selection employed tree models, regularization, and recursive feature elimination (RFE). Seven machine learning models (logistic regression, linear discriminant analysis, k-nearest neighbors, support vector machine, decision tree, random forest, XGBoost) were trained to predict mid-trimester short cervix. The XGBoost model—an ensemble method leveraging sequential decision trees—was analyzed using Shapley Additive Explanation (SHAP) values to assess feature importance, revealing consistent associations between clinical predictors and outcomes that align with known clinical patterns. Results: Among 1480 participants, 376 (25.4%) developed mid-trimester short cervix. The XGBoost-based prediction model demonstrated high predictive performance in the training set (Recall = 0.838, F1 score = 0.848), test set (Recall = 0.850, F1 score = 0.910), and an independent dataset collected in January 2025 (Recall = 0.708, F1 score = 0.791), with SHAP analysis revealing pre-pregnancy BMI as the strongest predictor, followed by second-trimester pregnancy loss history, peripheral blood leukocyte count (WBC), and positive vaginal microbiological culture results (≥10⁵ CFU/mL, measured between 11⁺⁰ and 13⁺⁶ weeks). Conclusions: The XGBoost model accurately predicts mid-trimester short cervix using first-trimester clinical data, providing a 6-week window for targeted interventions before the 20–24-week gestational assessment. This early prediction could help guide timely preventive measures, potentially reducing the risk of spontaneous preterm birth (sPTB). Full article

Adenomyosis is a benign gynecologic disease that mainly affects women aged 30–50 years old. Background: This pathology is characterized by glands and stroma of the endometrium that enter the myometrium and is confirmed through histopathological examination after hysterectomy. Transvaginal ultrasound is the most accepted imaging approach for the diagnosis and classification of adenomyosis. Existing medical treatments are not curative and are associated with several side effects. Uterine artery embolization is an alternative treatment for controlling the symptoms of adenomyosis with less trauma while preserving the uterus. Methods: The aim of our study was to observe the utility of uterine artery embolization (UAE) compared to hysterectomy in specific cases of adenomyosis. A retrospective cohort study was carried out between February 2024 and April 2025. We included 52 patients in our study: 27 opted for hysterectomy, while the other 25 chose to receive uterine artery embolization between January 2017 and December 2018. Clinical follow-up was assessed using a questionnaire regarding symptomatic changes in menorrhagia, pelvic pain, and quality of life before and after the surgical procedure. Statistical analyses were performed. Results: Patients opted for hysterectomy in cases of severe abnormal uterine bleeding before surgery that severely affected quality of life (p < 0.03 and p < 0.001). After surgery, pelvic pain improved for women who underwent UAE, but patients also reported no pelvic pain after hysterectomy. Furthermore, mild to moderate abnormal uterine bleeding was reported in cases of UAE, and bleeding stopped completely for women who had their uterus removed (p < 0.001). Quality of life improved for both groups and was reported as being good after the interventions. Conclusions: Embolization remains an alternative therapeutic option in adenomyosis but not a substitute for hysterectomy. This was concluded based on a case-by-case evaluation, depending on the desire for pregnancy, with a focus on improved clinical outcomes. Full article