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15 September 2023, Volume 42 Issue 5
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Original Article

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Analysis of Factors Affecting Clinical Pregnancy during Frozen-Thawed Embryo Transfer and Construction of Prediction Model of Nomogram DING Kai, ZHAO Chun, LING Xiu-feng, LI Xin 2023, 42 (5):  353-360.  doi: 10.12280/gjszjk.20230109 Abstract ( 1006 )   HTML ( 102 )   PDF (2616KB) ( 1373 )   Objective: To investigate the influencing factors of clinical pregnancy during the freeze-thawed embryo transfer (FET) cycle of hormone replacement therapy (HRT), and construct a clinical pregnancy prediction model. Methods: The clinical data of 2 107 cycles of the FET who underwent HRT at the Maternity Hospital of Nanjing Medical University from January 2018 to December 2020 were retrospectively analyzed. These cycles were randomly divided into the training set (1 499 cases) and the verification set (608 cases) according to the ratio of 7 ∶ 3. To explore the relationship between clinical characteristics and clinical pregnancy outcomes, they were divided into the clinical pregnancy group and the non-clinical pregnancy group. The least absolute shrinkage and selection operator (LASSO) regression model was used to screen the influencing factors, and the optimum parameter λ in the model was selected by the ten-fold cross-validation method. Multivariate Logistic regression analysis was used to construct a nomogram prediction model. The calibration curve, receiver operating characteristic (ROC) curve and decision curve analysis (DCA) were used to evaluate its effectiveness. Results: ① A total of 1 354 clinical pregnancy was in 2 107 cycles (64.26%). ②Ten variables selected by the LASSO regression model were included in the model, including age, basal FSH, basal LH, basal AMH, E2 at 14 days after FET, and the number of pregnancy, abortion, labor, induced abortion, and term birth. ③After adjusting for confounding factors, the multivariate Logistic regression analysis found that age, basal LH and AMH levels, and E2 levels at 14 days after FET were correlated with clinical pregnancy (both P<0.05), and a nomogram model was constructed accordingly. ④The areas under the ROC curve of the training set and the verification set were 0.662 and 0.683, respectively. The calibration curve showed a good consistency between the predicted risks and the actual results of the training set and the verification set, suggesting a certain degree of differentiation and good calibration degree. The DCA showed that when the threshold probabilities of the training set and the validation set were 1%-79% and 1%-81% respectively, the net benefit of patients was improved by using the column-line prediction model. Conclusions: A nomogram model was established to predict clinical pregnancy in the patients with FET, which can help clinicians to take the personalized treatment measure during or before FET so as to improve the clinical pregnancy rate to a certain extent. Figures and Tables | References | Related Articles | Metrics

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Clinical Manifestations and Genetic Analysis of 21 Cases with Aicardi-Goutières Syndrome ZENG Lan, WANG Jin, ZHU Hui, WANG Qi-yan, ZHU Shu-yao, CHEN Ai, LUO Ze-min, PANG Ying 2023, 42 (5):  361-365.  doi: 10.12280/gjszjk.20230078 Abstract ( 1342 )   HTML ( 32 )   PDF (2515KB) ( 1314 )   Objective: The clinical manifestation and genetic characteristics of Chinese patients with Aicardi-Goutières syndrome (AGS) diagnosed by gene sequencing were summarized. Methods: Clinical data including the gene sequencing results of AGS patients meeting the inclusion criteria were collected and analyzed. Results: 21 Chinese AGS cases were included in this study. The clinical manifestations were intellectual disability (90.0%), movement disorders (89.5%), dystonia (73.7%) and microcephaly (70.6%). Cranial imaging showed bilateral symmetrical calcification of basal segment, progressive brain atrophy (95.2%), and skin manifestations with frostbite-like rash (84.2%). Gene mutation analysis of 21 cases showed 8 cases with mutations in TREX1, 5 cases with RNASEH2C mutations, 4 cases with IFIH1, 2 cases with ADAR mutations, 1 case with RNASEH2A and 1 case with RNASEH2B mutations. The mutations of SAMHD1 gene were not involved. 84.2% cases were pedigree inherited, those parents who carry genetic mutations have no symptoms, and 15.8% cases were new variants. Conclusions: It is important to strengthen prenatal attention to those fetuses with abnormal soft indicators such as fetal growth restriction, microcephaly and lateral ventricle widening, and to strengthen prenatal management, timely multidisciplinary discussion and prenatal diagnosis, so as to reduce the birth of children with AGS. Figures and Tables | References | Related Articles | Metrics

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Analysis of Pathogenic Variant of EVC2 Gene in A Fetus with Ellis-Van Creveld Syndrome WU Qin, FENG Xuan, ZHOU Bing-bo, TIAN Xin-yuan, HAO Sheng-ju, HUI Ling, CHEN Xue 2023, 42 (5):  366-370.  doi: 10.12280/gjszjk.20230131 Abstract ( 1202 )   HTML ( 37 )   PDF (4932KB) ( 1839 )   Objective: The combined sequencing techniques were used in a case of Ellis-van Creveld syndrome (EVC syndrome) to test the genetic variants, so as to provide a basis for genetic consulting. Methods: Ultrasound examination of a fetus at 24 weeks of gestation showed the fetal six fingers behind hands′ axis, short limb of long bone, heart malformation, aortic arch constriction and other malformations. The amniotic fluid and parental peripheral bloods were collected and genomic DNAs were extracted. The high-throughput sequencing platform was used to perform Trio-whole exome sequencing (Trio-WES) and low-depth whole genome copy number variation sequencing (CNV-seq). Positive variants were verified by Sanger sequencing and real-time quantitative polymerase chain reaction. Results: The Trio-WES showed that there were compound heterozygous variants of EVC2 gene in fetus: c.682G>C(p.A228P) homozygous variation and loss1(Exon:2-22)all heterozygous loss. Two EVC2 gene variants were inherited from parents. According to the American College of Medical Genetics and Genomics (ACMG): c.682G>C(p.A228P) and loss1(Exon:2-22)all caused likely pathogenic variations: PM1+PM2_Supporting+PM3+PP4 and PVS1+PM2_Supporting. Conclusions: The compound heterozygous c.682G>C(p.A228P) and loss1(Exon:2-22)all variants of the EVC2 gene probably underlay the EVC syndrome in this fetus. Above two variations were new mutations, which enriched the mutational spectrum of the EVC2 gene. At the same time, it provided the theoretical basis for the prenatal genetic consultation. Figures and Tables | References | Related Articles | Metrics

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Genetic Variation Analysis of A Prenatal Fetus with Silver-Russell Syndrome YANG Yu-ting, HUI Ling, CHEN Xue, ZHANG Chuan, TIAN Xin-yuan, ZHOU Bing-bo 2023, 42 (5):  371-376.  doi: 10.12280/gjszjk.20230094 Abstract ( 1083 )   HTML ( 37 )   PDF (3150KB) ( 1342 )   Objective: A fetus was suggested the developmental abnormity of skeletal system and suspected growth restriction by prenatal B-ultrasound. To clarify the cause of the disease, genetic detection and bioinformatics analysis were conducted. Methods: gDNAs were extracted from the amniotic fluid of proband and the peripheral blood of his parents, respectively. Whole exome sequencing (WES) and copy number variation sequencing (CNV-seq) technique of trio via high-throughput sequencing platforms, and Sanger sequencing were used to verify the likely pathogenic variant. Results: A denovo mutation of c.223C>T(p.R75W) in the fetal high mobility group protein AT-Hook-2(HMGA2) gene was found. It is a missense mutation, resulting in the change of amino acid to p.R75W (p.Arg75Trp). According to American College of Medical Genetics and Genomics (ACMG), the variant was assessed to be a likely pathogenic variant: PS2+PM2_Supporting+PP3+PS4_Supporting. Based on the clinical phenotype, the fetus was diagnosed with an autosomal dominant Silver-Russell syndrome 5 (SRS5). Sanger sequencing confirmed the authenticity of the mutation. Conclusions: The c.223C>T(p.R75W) of HMGA2 gene may be the genetic cause of the heterozygous pathogenic variation, which expands the variant profile of this gene and provides a theoretical basis for prenatal genetic counseling and subsequent interventions in the fetus. Figures and Tables | References | Related Articles | Metrics

Case Report

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Ovarian Primitive Neuroectodermal Tumor: A Case Report and Literature Review AN Rong, WANG Xiao-hui 2023, 42 (5):  376-379.  doi: 10.12280/gjszjk.20230035 Abstract ( 1058 )   HTML ( 30 )   PDF (3827KB) ( 1282 )   The primitive neuroectodermal tumor (PNET) in female reproductive system is clinically rare. There is no standard treatment regimen, and the prognosis is very poor. We report one case of unusual ovarian PNET, menstrual abnormality was the main symptom. There was a history of uterine leiomyoma. The serum tumor markers were not significantly increased. Meanwhile, there was no abnormal imaging findings. On October 20, 2022, the laparoscopic total hysterectomy, bilateral salpingectomy and bilateral ovariectomy was given under endotracheal general anesthesia. Postoperative pathology confirmed the diagnosis of ovarian small round cell malignant tumor. After surgery, the alternating chemotherapy with vincristine, doxorubicin liposomes, cyclophosphamide-ifosfamide and etoposide was given 5 cycles and showed no recurrence. By summarizing the clinical characteristics of such a rare tumor, it aims to improve clinicians′ understanding of the disease, so as to provide early diagnosis and effective treatment, and to improve the survival of patients. Figures and Tables | References | Related Articles | Metrics

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A Case of Chromosomal Translocation Combined with Chimeric Marker Chromosome Induced Cri-Du-Chat Syndrome TIAN Wei-juan, ZHOU Mei-hua, JIANG Lu-xi, ZHANG Qiong 2023, 42 (5):  380-383.  doi: 10.12280/gjszjk.20230093 Abstract ( 1142 )   HTML ( 23 )   PDF (1487KB) ( 1290 )   The genetic etiology was comprehensively tested by noninvasive prenatal testing (NIPT), copy number variation sequencing (CNV-seq) and chromosome karyotype analysis in a fetus case with the critical risk of Down′s screening (1/476) in the second trimester of pregnancy. In this fetus, ultrasound found the choroid plexus cyst of left side, and NIPT indicated the high risk of 8.49 Mb deletion of 5p15.2-p15.33. The deletion of p.15.2-p.15.33 of chromosome 5 was indicated by CNV-seq, which was involved in the key regions related to Cri-du-Chat syndrome. Chromosome karyotype analysis showed that the fetal karyotype was 46,XX,der(5)t(5;21) (p15.2;q11.1),-21,+mar dn[85], and that the parental karyotypes were normal, which suggested that the abnormity of fetal karyotype was a new mutation. In this study, a fetus with complex karyotype of Cri-du-Chat syndrome was diagnosed by the multiple prenatal methods. This case enriches the types of chromosome variation in Cri-du-Chat syndrome and demonstrates the importance of multi-method screening and diagnosis for the prevention of birth defects. Figures and Tables | References | Related Articles | Metrics

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Broad Ligament Pregnancy in Mid-Term with Rupture: A Case Report and Literature Review WANG Yan-hua, YAN Hai-yan 2023, 42 (5):  384-386.  doi: 10.12280/gjszjk.20230045 Abstract ( 1010 )   HTML ( 38 )   PDF (3553KB) ( 1290 )   Broad ligament pregnancy is a rare ectopic pregnancy of a special site. This article reports a rare case of rupture of broad ligament in mid-term pregnancy with hemorrhagic shock. Reviewed its clinical data and combined with the literature, the clinical characteristics and treatment of broad ligament pregnancy were analyzed and summarized. The clinical manifestations of the patient are not specific. Preoperative diagnosis is difficult. Misdiagnosis and missed diagnosis often occur, and most of them are found in intraoperative exploration. In early pregnancy, laparoscopic broad ligament gestation lesion removal is feasible. If diagnosed in the second trimester of pregnancy, if the fetus is large, or if there is massive abdominal bleeding or shock in the abdominal cavity, laparotomy should be performed as soon as possible to save the patient′s life and reduce mortality. Figures and Tables | References | Related Articles | Metrics

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Synchronous Cervical Adenocarcinoma Combined with Ovarian Cancer: A Case Report and Literature Review WANG Min, AN Rong, ZHANG Jing, QI Qi, XU Fei-xue 2023, 42 (5):  387-391.  doi: 10.12280/gjszjk.20230098 Abstract ( 1078 )   HTML ( 30 )   PDF (8271KB) ( 1262 )   A rare case of dual primary cancer which combined synchronous cervical adenocarcinoma with ovarian cancer was reported. The patient was a 56-year-old female. The main clinical manifestations were abnormal vaginal bleeding and lower abdominal pain. The levels of serum tumor markers were significantly elevated, pelvic CT showed the decreased patular enhancement of the posterior uterine wall, and electronic colposcopy biopsy showed the high-grade intraepithelial neoplasia of some glandular epithelium, more severe lesions not excluded. On June 2, 2020, the patient underwent the operation of exploratory laparotomy + enlarged hysterectomy + bilateral adnexectomy + pelvic adhesion release + pelvic lymph node dissection + abdominal drainage under endotracheal intubation and general anesthesia, and then underwent 6 times of chemotherapy and 1 time of pelvic three-dimensional conformal intensive radiotherapy. Later, she died due to the intestinal obstruction caused by tumor recurrence. The case data of cervical cancer combined with ovarian cancer were reviewed, in order to improve clinicians′ understanding of gynecological dual primary cancer. Figures and Tables | References | Related Articles | Metrics

Review

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Research Progress of m6A Modification in Reproductive-Related Diseases ZHOU Xin-yue, ZHANG An-ni, ZHANG Xue-hong 2023, 42 (5):  392-397.  doi: 10.12280/gjszjk.20230145 Abstract ( 1021 )   HTML ( 32 )   PDF (829KB) ( 1272 )   N6-methyladenosine (m6A) methylation is the most common RNA modification in eukaryotes, which regulates gene expression and biological functions by controlling RNA metabolism, alternative splicing, degradation and translation. In recent years, it has been found that m6A methylation plays an important regulatory role in the reproductive system, and that m6A is involved in the occurrence and development of polycystic ovary syndrome, endometriosis, premature ovarian insufficiency, adenomyosis and other female reproductive endocrine diseases and female reproductive system tumors. In addition, m6A methylation modification can also regulate human spermatogenesis and testicular function, and m6A is associated with male oligoasthenospermia and male reproductive system tumors. Taken together, m6A methylation modification may be a new target for the regulation of reproductive-related diseases. In this article, we review the mechanism of m6A methylation modification and the research progress in reproductive-related diseases, which has certain guiding significance for the diagnosis and treatment of reproductive-related diseases. References | Related Articles | Metrics

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Research Progress of the Controlled Ovarian Stimulation Protocols for Women with Endometriosis-Related Infertility CHEN Yin, WANG Jing, MAO Yun-dong 2023, 42 (5):  398-402.  doi: 10.12280/gjszjk.20230158 Abstract ( 1026 )   HTML ( 37 )   PDF (741KB) ( 1280 )   In vitro fertilization-embryo transfer (IVF-ET) is an effective method for the treatment of infertility combined with endometriosis (EMs). The ultra-long protocol of gonadotropin-releasing hormone agonist (GnRHa) for the long-term down-regulation of pituitary can help to improve pregnancy outcomes in infertile patients with EMs. In recent years, more and more ovulation induction protocols have been applied in patients with EMs-related infertility, such as gonadotropin-releasing hormone antagonist (GnRHA) protocol and progestin-primed ovarian stimulation (PPOS) protocol. These protocols have showed their potential in improving the pregnancy outcomes in patients with EMs-related infertility. However, the choice of ovulation induction protocols in patients with EMs-related infertility is controversial due to unknown etiology, complex staging and clinical heterogeneity. It is necessary to conduct more high-quality clinical studies to validate the efficiency of these protocols in the different individuals. References | Related Articles | Metrics

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Research Progress of Autologous Peripheral Blood Mononuclear Cell in the Treatment of Unexplained Recurrent Implantation Failure LI Ning, ZHANG An-ni, ZHANG Xue-hong 2023, 42 (5):  403-408.  doi: 10.12280/gjszjk.20230176 Abstract ( 1062 )   HTML ( 22 )   PDF (787KB) ( 1331 )   Recurrent implantation failure (RIF) brings huge economic and psychological burden to infertile couples. After excluding the known maternal-fetal factors, the incidence of unexplained RIF is still high. It is believed that immune factor is one of the potential causes. The success of embryo implantation depends on the local immune tolerance of the mother. Peripheral blood mononuclear cell (PBMC) contain T lymphocytes, B lymphocytes and monocytes. Intrauterine infusion of autologous PBMC can restore the immune balance and improve the endometrial receptivity and the implantation rate. Nowdays, the therapy with autologous PBMC intrauterine infusion has made some progress as a new potential treatment for unexplained RIF. However, the mechanism of therapeutic action is not yet clear, even the therapeutic effect is controversial. In addition, the culture method of PBMC, the number of intrauterine infusion cells, the timing of infusion and the applicable population still need to be further explored. References | Related Articles | Metrics

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Progress on the Relationship between Gut Microbiota and Pregnancy Complications SONG Qiu-jin, QIAN Xiao-hong, CHEN Qian 2023, 42 (5):  409-413.  doi: 10.12280/gjszjk.20230091 Abstract ( 959 )   HTML ( 26 )   PDF (739KB) ( 1252 )   The gut microbiota plays an important role in maintaining the normal physiological function of the host. Due to the particularity of pregnant women in circulation, endocrine, immune status and dietary structure, the composition and quantity of gut microbiota will also change accordingly to adapt to the physiology of pregnancy. Studies have found that the composition of the gut microbiota in pregnant women had a causal relationship with the occurrence of pregnancy complications, such as gestational diabetes mellitus, pre-eclampsia and premature. Specifically, the dysbiosis of the gut microbiota and the metabolites can damage intestinal barrier, aggravate local and systemic inflammation, then lead to insulin resistance, hyperglycemia, hypertension and other symptoms, and finally increase the risk of pregnancy complications. In addition, the gut microbiota-targeted strategies, such as probiotic supplementation and prebiotics intake, had therapeutic effects in improving the immune and metabolic status of the host, which may provide a feasible method for the prevention and adjuvant treatment of pregnancy complications. References | Related Articles | Metrics

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Research Progress of Ferroptosis in Obstetric Diseases HE Yue, CUI Hong-mei 2023, 42 (5):  414-418.  doi: 10.12280/gjszjk.20230197 Abstract ( 1033 )   HTML ( 26 )   PDF (725KB) ( 1275 )   Ferroptosis is a new type of programmed cell death. The main pathological feature of ferroptosis is the accumulation of free iron and lipid peroxidation products, which mainly involves iron metabolism, amino acid metabolism and lipid metabolism. Recent studies have shown that ferroptosis leads to trophoblastic injury and placental dysfunction through various ways such as affecting cellular lipid metabolism and oxidative stress, and that ferroptosis plays an important regulatory role in the occurrence and development of obstetric diseases such as pre-eclampsia, gestational diabetes mellitus, spontaneous preterm birth, abortion and fetal growth restriction. In this paper, we reviewed the mechanism of ferroptosis and its correlation with obstetric diseases, so as to provide new ideas for further study of the pathogenesis and treatment of obstetric diseases. References | Related Articles | Metrics

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Research Progress of Growth Differentiation Factor 15 and Adverse Pregnancy Outcomes ZHU Meng-yi, GAO Jing-shu, WANG Yu, FENG Jia-xing, ZHANG Bei, WU Xiao-ke 2023, 42 (5):  419-423.  doi: 10.12280/gjszjk.20230099 Abstract ( 1040 )   HTML ( 18 )   PDF (731KB) ( 1352 )   Growth differentiation factor 15(GDF15) is one member of the transforming growth factor-β (TGF-β) superfamily. GDF15 is specifically overexpressed in placental tissue. The expression level of GDF15 gradually increases with gestational age. Some studies have shown that the abnormal level of GDF15 is associated with a variety of adverse pregnancy outcomes at the different stages of pregnancy. During the first trimester of pregnancy, the low level of GDF15 is associated with spontaneous abortion, while the high level of GDF15 is associated with nausea and vomiting of pregnancy, and even hyperemesis gravidarum. During the second and third trimester, the abnormal expression level of GDF15 is closely related to the metabolism-related diseases such as gestational hypertensive disorder, gestational diabetes mellitus and gestational anemia. In this article, we review the relationship between GDF15 and adverse pregnancy outcomes. References | Related Articles | Metrics

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The Application of Mesenchymal Stem Cells and Combined Biomaterial Scaffolds in the Treatment of Intrauterine Adhesions LIU Hong-jiang, JIANG Xiao-hua, WEI Zhao-lian 2023, 42 (5):  424-430.  doi: 10.12280/gjszjk.20230190 Abstract ( 927 )   HTML ( 10 )   PDF (796KB) ( 1357 )   Intrauterine adhesions (IUA) is the primary uterine factor contributing to female infertility, and current therapeutic measures are difficult to improve endometrial regeneration with a high risk of recurrence. Mesenchymal stem cells (MSCs) have been widely used in regenerative medicine research, and the sources of MSCs include bone marrow, umbilical cord, amniotic membrane, adipose, and menstrual blood. Numerous studies demonstrated that MSCs may inhibit endometrial fibrosis, promote endometrial repair, suggesting that MSCs can be used to treat IUA in clinical study. The mechanisms involve three main functions of MSCs: paracrine, immunomodulatory and direct differentiation into endometrial cells. However, the in vitro survivability and utilization rate of MSCs are low, and the long-term retention of MSCs is difficult for both systemic and local applications. Biomaterial scaffolds can be loaded with MSCs to build an in situ delivery system and prolong the retention time of MSCs after intrauterine perfusion. Commonly used biomaterials include hyaluronic acid, collagen, temperature-sensitive hydrogels and other materials. Some biomaterial scaffolds can even improve the properties of MSCs, enhance their chemotactic and secretory abilities, and improve the therapeutic efficacy. This article reviews the application of MSCs and the combined biomaterial scaffolds in the experimental treatment of IUA. References | Related Articles | Metrics

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Advances of Therapy for Intrauterine Adhesions YAO Xin-yi, YU Ling 2023, 42 (5):  431-436.  doi: 10.12280/gjszjk.20230224 Abstract ( 861 )   HTML ( 20 )   PDF (795KB) ( 1325 )   The commonly used treatment method for intrauterine adhesions(IUA) is hysteroscopic transcervical resection of adhesion, but the postoperative recurrence rate is high, and the risk of postoperative endometrial injury is also high. The curative effect of drugs, including oral estrogen, tamoxifen, aspirin, subcutaneous injection of GnRH agonists, intrauterine injection of the low dose of human chorionic gonadotropin, etc., is unstable, while the treatment cycle is long. In recent years, the development of cell therapy and regenerative medicine has provided a new research direction for the treatment of IUA. Good therapeutic effects of intrauterine perfusion or intravenous infusion of stem cell suspension, intrauterine infusion of platelet-rich plasma, growth factors and related biological materials have been reported. A variety of new adjuvant therapy measures developed on the basis of cell therapy have been gradually applied in the practice of IUA treatment, as the ideal methods to prevent readhesion. Combined with gels, scaffolds and other biological materials, these adjuvant measures also provide a new treatment idea for the refractory IUA. References | Related Articles | Metrics

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Progress on the Relationship between Ferroptosis and Cervical Cancer GAO Ya-ting, MA Jian-hong, MA Yi-tong, LIU Chang 2023, 42 (5):  436-440.  doi: 10.12280/gjszjk.20230120 Abstract ( 1002 )   HTML ( 27 )   PDF (719KB) ( 1297 )   Ferroptosis as a new form of regulatory cell death is characterized by iron-dependent accumulation of lipid peroxides. Ferroptosis is regulated by many pathways, including glutathione peroxidase 4 (GPX4) pathway, iron metabolism and lipid metabolism pathway. Ferroptosis plays a key role in various physiological and pathological processes, such as tissue homeostasis, cancer and neurodegeneration. Cervical cancer is the fourth most common cancer among women in the world, with high mortality. Ferroptosis may be involved in the pathogenesis of cervical cancer, and that ferroptosis may be a potential therapeutic and prognostic target. Studies show that the inhibition of GPX4 and iron chelation, and the regulation of lipid metabolism pathway, can induce the ferroptosis of cervical cancer cells. In addition, some natural compounds and drugs have been proved to induce the ferroptosis of cervical cancer cells, indicating their potential as therapeutic agents for cervical cancer. Studying the mechanism and regulation of ferroptosis may provide new insights for the new treatment strategies of cervical cancer. Figures and Tables | References | Related Articles | Metrics