OBJECTIVE:This study investigates the association between alobar holoprosencephaly (HPE) and de novo germline microdeletions in the Xq25 region. To develop a Preimplantation Genetic Testing for Monogenic Disorders (PGT-M) based workflow enabling high-resolution preimplantation detection of sub-Mb microdeletions, overcoming the >1 Mb resolution limit of conventional whole genome amplification(WGA) copy number variation(CNV) sequencing to identify causative Xq25 variants and prevent pathogenic microdeletion transmission. METHODS:This study presents a clinical case involving a couple with an adverse obstetric history accompanied by two occurrences of HPE. Genetic analysis and counseling were performed, followed by haplotype analysis and PGT-M as interventions. The Mutated Allele Revealed by Sequencing with Aneuploidy and Linkage Analyses (MARSALA) technique was utilized as a simple, efficient, and reliable approach for PGT-M. PRIMARY AND SECONDARY OUTCOME MEASURES:The primary outcomes were the detection of chromosome microdeletions and the successful selection of embryos lacking Xq25 fragment microdeletions. Pregnancy outcomes, embryo development, and genetic counseling results served as secondary outcomes. We analyzed conception products using chromosome microarray analysis and performed single-nucleotide polymorphism haplotype linkage analysis on biopsy tissues amplified by WGA prior to sequencing. Chromosome abnormalities with microdeletions were identified using the PGT-M-based workflow. Embryo euploidy status was assessed using high-depth copy number variation sequencing. RESULTS:Among five tested blastocysts, three were euploid (two carrying a maternal mutation and one non-mutant.). Following implantation of the mutation-free euploid blastocyst, a successful pregnancy was achieved. Chromosomal karyotype and chromosome microarray analysis (CMA) analysis of mid-pregnancy amniotic fluid showed normal chromosomes and genetic content, leading to the birth of a healthy, full-term infant. CONCLUSIONS:This study underscores the necessity of maintaining detailed obstetric records, providing genetic counseling, and preserving nonviable fetal genetic material. By integrating the MARSALA technique with selected genetic marker-based SNP linkage analysis under the framework of PGT-M, this study established a method enabling single-cell-level preimplantation diagnosis of various chromosomal microabnormalities.

Objective. This study aimed to evaluate the effect of a novel intrauterine infusion of autologous platelet-rich plasma (PRP) on endometrial condition and clinical outcomes in patients with thin endometrium undergoing frozen-thawed embryo transfer (FET) cycles. Methods. A prospective randomized controlled trial was conducted with 70 patients diagnosed with thin endometrium at the Reproductive Medicine Center of Shenzhen Maternal and Child Health Hospital from January 2022 to June 2023. The patients were randomly divided into two groups: a single PRP infusion group and a PRP combined with endometrial microstimulation (EM+PRP) group. Endometrial thickness and classification were assessed before and after treatment. Clinical outcomes, including human chorionic gonadotropin (HCG) positivity rate, embryo implantation rate, clinical pregnancy rate, and early miscarriage rate, were analyzed. Results. Baseline characteristics, including pre-treatment endometrial thickness, were comparable between groups. Both groups showed a significant increase in endometrial thickness after treatment (P<0.05). The EM+PRP group exhibited a greater improvement in post-treatment endometrial thickness compared to the single PRP group (P<0.05). Endometrial morphology showed improvement in both groups, but the difference was not statistically significant (P>0.05). No significant differences were found between the two groups in terms of HCG positivity rate, embryo implantation rate, clinical pregnancy rate, or early miscarriage rate. Conclusion. Both EM+PRP and single PRP intrauterine infusion effectively increased endometrial thickness and improved clinical outcomes in patients with thin endometrium. The combined EM+PRP therapy showed potential for greater efficacy in improving endometrial condition, warranting further research in larger, multicenter studies.

Background The elevated circulating toxins secondary to the impairment of intestinal barrier integrity commonly elicit a chronic inflammatory response and finally contribute to multiple diseases. These toxins, including bacterial by-products and heavy metals, are the potent risk factors for the development of recurrent spontaneous abortion (RSA). Preclinical evidence suggests that several dietary fibers can restore intestinal barrier function and decrease the accumulation of heavy metals. However, it is uncertain whether treatment with a newly developed blend of dietary fibers product (Holofood) benefits patients with RSA. Methods In this trial, we enrolled 70 adult women with RSA, who were randomly assigned into the experiment group and the control group in a 2:1 ratio. Upon the basis of conventional therapy, subjects in the experiment group ( n = 48) received 8 weeks oral administration with Holofood three times daily at a dose of 10 g each time. Subjects without Holofood consumption were set as the control ( n = 22). Blood samples were collected for the determinations of metabolic parameters, heavy mental lead, and the indices related to intestinal barrier integrity ( d -lactate, bacterial endotoxin, and diamine oxidase activity). Results The reduction amplitude in blood lead from baseline to week 8 was 40.50 ± 54.28 (μg/L) in the experiment group as compared with 13.35 ± 36.81 (μg/L) in the control group ( P = 0.037). The decreased level of serum d -lactate from baseline to week 8 was 5.58 ± 6.09 (mg/L) in the experiment group as compared with − 2.38 ± 8.90 (mg/L, P < 0.0001) in the control group. The change in serum DAO activity from baseline to week 8 was 3.26 ± 2.23 (U/L) in the experiment group as compared with − 1.24 ± 2.22 (U/L, P < 0.0001) in the control group. Participants who received Holofood had a greater decline in blood endotoxin from baseline to week 8 than those in the control group. Moreover, by comparing with the self-baseline, Holofood consumption significantly decreased the blood levels of lead, d -lactate, bacterial endotoxin, and DAO activity. Conclusion Our results suggest that Holofood affords a clinically relevant improvements in blood lead level and intestinal barrier dysfunction in patients with RSA.

目的 探讨生理盐水宫腔声学造影(saline influsion sonohysterography,SIS)对反复流产患者宫内病变诊断的应用价值.方法 从2020年6月—2021年12月就诊于深圳市妇幼保健院的反复流产患者中选取72例疑有宫腔病变的患者,对其进行经阴道超声(transvaginal sonography,TVS)、SIS及宫腔镜检查,以宫腔镜检查为金标准,比较不同诊断方法之间的应用价值.结果 TVS与宫腔镜诊断结果一致性检验显示,Kappa值为0.291,灵敏度为100.00%,特异度为29.73%.SIS与宫腔镜诊断结果一致性检验显示,Kappa值为0.944,灵敏度为100.00%,特异度为94.59%.TVS诊断宫腔病变的准确性为63.89%,明显低于SIS的97.22%,差异有统计学意义(χ2=25.537,P＜0.005).结论 SIS是一种诊断宫内病变简便、有效、无创的检查方法.

Objective: The aim of this study was to determine the prevalence of congenital heart defects and examine their association with preeclampsia (PE). Methods: A clinical-based, retrospective study was conducted in Shenzhen between 2004 and 2017. Data were collected from Shenzhen Maternal and Child Health Hospital Medical Record Database. This study included all infants who were born at the hospital with or without heart defects and their mothers (N = 177,434 newborns). Data processing and analysis were performed by SPSS23.0 (Chicago, IL, USA). Results: 6,852 women (3.9%) were diagnosed as PE and 1,289 newborns (7.30 per 1,000) have congenital heart disease (CHD). Prevalence of CHD in newborns of women with PE is 15.8 per 1,000 significantly higher than the overall prevalence (7.30 per 1,000). CHD in newborns has strong association with PE, especially early-onset PE (adjusted OR 3.29 and 95% CI 2.15–5.03) and severe PE (adjusted OR 2.75 and 95% CI 2.13–3.56). Among those with CHD, infants of preeclamptic women had higher prevalence of tetralogy of Fallot (43.78 vs. 28.14 per 100,000), atrial septal defect (335.67 vs. 53.93 per 100,000), ventricular dysplasia (102.16 vs. 89.69 per 100,000), and ventricular septal defect (525.39 vs. 212.22 per 100,000) than pregnant women with non-PE. Conclusion: PE, especially early-onset PE and severe PE, is strongly associated with offspring CHD. Our results help advance the current understanding of the association between PE and offspring CHD. So preventing PE and reducing PE may have a beneficial effect on the offspring CHD.

目的 染色体微阵列分析对一例同源性染色体罗伯逊易位单亲二倍体发生机制的探讨.方法 针对一例妻子反复自然流产的男性,其染色体核型为45,XY,rob(22;22)(q10;q10),为同源性染色体罗伯逊易位.外周血进行微阵列分析,检测是否为单亲二倍体.结果 该男性染色体微阵列分析提示为22号染色体单亲二倍体.结论 对于同源性染色体罗伯逊易位的携带者,增加了单亲二倍体的风险.而染色体微阵列为单亲二倍体的检测提供高效的技术平台.

目的 分析低分子肝素治疗易栓症复发性流产的疗效.方法 选择2017年3月—2019年3月到该院就诊的182例妊娠并有易栓症风险患者为研究对象,随机分成对照组和研究组,每组91例.对照组患者常规给予地屈孕酮、叶酸和维生素E.而研究组则在对照组治疗基础上给予低分子肝素治疗.观察两组患者抗凝血酶-III、蛋白C、蛋白S、D二聚体等易栓症标志物血清生化指标和不良妊娠结局情况,并进行比较.结果 对比两组患者血清生化指标,结果 显示研究组患者抗凝血酶-III(104.13±11.71)％、蛋白C(77.05±5.83)％和蛋白S(83.51±10.25)％的水平趋于正常,明显高于对照组,差异有统计学意义(t=6.371、17.650、8.799,P<0.05);研究组患者血清D-二聚体浓度明显低于对照组趋于正常,差异有统计学意义(P<0.05).研究组患者胎儿生长受限、再次流产、新生儿窒息、低体重儿及胎盘早剥等不良妊娠结局的发生率明显低于对照组,差异有统计学意义(P<0.05).结论 低分子肝素治疗易栓症复发性流产疗效显著,可降低妊娠期易栓症孕妇不良妊娠结局的发生率.

目的 将克罗米芬联合尿促性素应用于卵巢储备功能减退不孕患者,分析其对患者排卵情况的影响.方法 选择2017年2月-2019年3月收治的98例卵巢储备功能减退不孕患者,以治疗方式分组,研究组与参照组各49例,参照组应用克罗米芬,研究组以克罗米芬联合尿促性素治疗,观察两组排卵情况、妊娠情况、流产情况及血清性激素水平差异.结果 研究组排卵率、妊娠率分别为71.43％、55.10％,与参照组48.98％、26.53％相比相对更高,差异有统计学意义(x2=5.153、8.279,P＜0.05),研究组流产率为4.08％,与参照组10.20％相比差异无统计学意义(P＞0.05);治疗前,两组E2、LH、P水平差异无统计学意义(P＞0.05),治疗后,研究组上述指标均高于参照组,差异有统计学意义(P＜0.05).结论 对卵巢储备功能减退不孕患者而言,应用克罗米芬联合尿促性素治疗效果理想,不仅可促进排卵,提高妊娠率,还可调节血清性激素水平,值得应用.

目的:探讨微创腔镜手术治疗ⅠA2~ⅡA期宫颈癌的临床疗效.方法:选择2015年12月至2016年12月我院行手术治疗的88例ⅠA2~ⅡA期宫颈癌患者作为研究对象,随机分为对照组(行开放式全子宫切除术+腹盆腔淋巴结清扫术)与观察组(行微创腔镜广泛全子宫切除术+盆腔淋巴结清扫术),每组44例.评价两组患者的术中情况与术后指标、术后并发症情况以及1年内宫颈癌的复发率.结果:观察组手术时间、术中失血量,术后尿管拔除时间、恢复排气时间、住院时间均低于对照组(P<0.05);两组淋巴结清除个数、宫颈阴道旁组织切缘与肿瘤病灶的距离差异无统计学意义(P>0.05).观察组术后并发症低于对照组(P<0.05).观察组患者1年内复发率与对照组差异无统计学意义(P>0.05).结论:微创腔镜手术治疗ⅠA2~ⅡA期宫颈癌临床疗效确切,具有术中操作快速、失血量少、术后并发症低、利于术后恢复等优势,适于临床推广.

目的 对比盆底重建术与传统手术方案应用于盆腔器官脱垂(POP)治疗中的效果.方法 选择2014年8月-2016年8月该院收治的POP患者62例,采用随机数字表将其分为两组,即对照组与研究组各31例.对照组行传统阴式子宫全切术联合阴道后壁修补术治疗,研究组行盆底重建术.观察对比两组手术时间、出血量、住院时间、临床治疗效果及术后并发症情况.结果 研究组手术时间、出血量、住院时间均低于对照组(P＜0.05).研究组治疗总有效率96.77％,高于对照组的74.19％(P＜0.05).研究组术后并发症发生率为6.45％,与对照组的9.68％对比差异无统计学意义(P＞0.05).结论 相较于传统手术方案,盆底重建术应用于POP患者中具有更为显著的治疗效果,适于临床推广.