Objectives: To report the sexual functional outcomes of vaginal dilation therapy in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome patients. Methods: From March 2020 to February 2023, 97 MRKH syndrome patients performed vaginal dilation therapy with guidance from Peking Union Medical College Hospital, and 45 of them engaged in penetrative intercourse and were included in this prospective cohort study. The Chinese version of female sexual function index (FSFI) was used to assess sexual function. Functional success was defined as FSFI>23.45. Forty age-matched healthy women were selected as controls. Kaplan-Meier survival analysis was used to calculate the median time to success. Pearson correlation analysis was used to explore the relationship between neovagina length and sexual function. Complications were collected using follow-up questionnaires. Results: The functional success rate of vaginal dilation therapy was 89% (40/45) with a median time to success of 4.3 months (95%CI: 3.0-6.1 months). Compared to controls, MRKH syndrome patients had significantly lower scores in the orgasm domain (4.72±1.01 vs 4.09±1.20; P=0.013) and pain domain (5.03±0.96 vs 4.26±0.83; P<0.001). However, there were no significant differences in the FSFI total score (26.77±2.70 vs 26.70±2.33; P=0.912), arousal domain (4.43±0.77 vs 4.56±0.63; P=0.422) and satisfaction domain (4.88±0.98 vs 4.65±0.86; P=0.269) between MRKH syndrome patients and controls. MRKH syndrome patients had significantly higher scores in the desire domain (3.33±0.85 vs 3.95±0.73; P<0.001) and lubrication domain (4.37±0.56 vs 5.20±0.67; P<0.001). The prevalence of sexual dysfunction in MRKH patients was non-inferior to controls: low desire [3% (1/40) vs 23% (9/40); P=0.007], arousal disorder [3% (1/40) vs 3% (1/40); P>0.999], lubrication disorder [5% (2/40) vs 25% (10/40); P=0.012], orgasm disorder [40% (16/40) vs 20% (8/40); P=0.051], sexual pain [30% (12/40) vs 15% (6/40); P=0.108]. Conclusions: MRKH syndrome patients undergoing non-invasive vaginal dilation therapy could achieve satisfactory sexual life. Given its high functional success rate and slight complication, vaginal dilation therapy should be recommended as the first-line option, reducing the need for unnecessary surgeries.
目的： 评估顶压法人工阴道成形术的Mayer-Rokitansky-Küster-Hauser（MRKH）综合征患者的性功能、功能学成功率及并发症。 方法： 本研究为前瞻性队列研究，选取2020年3月至2023年2月于北京协和医院行顶压法人工阴道成形术的MRKH综合征患者共97例，其中45例顶压治疗开始后有阴茎插入式性生活被纳入本研究（即观察组）。采用经中文验证的女性性功能指数量表（FSFI）对患者性功能进行评估，采用FSFI总分>23.45分为功能学成功标准；同时选择40例年龄匹配的正常妇女作为对照组。采用Kaplan-Meier法计算顶压开始至成功所需的时长。采用Pearson相关性分析计算阴道长度与FSFI评分之间的关系。通过随访问卷记录患者顶压过程中出现的并发症。 结果： 89%（40/45）的观察组MRKH综合征患者顶压后达到功能学成功标准，成功所需的中位时长为4.3个月（95%CI为3.0~6.1个月）。与对照组相比，虽然观察组的性高潮评分［分别为（4.72±1.01）、（4.09±1.20）分；P=0.013］和疼痛程度评分［分别为（5.03±0.96）、（4.26±0.83）分；P<0.001］低于对照组，但观察组在FSFI总分［（26.77±2.70）、（26.70±2.33）分；P=0.912］、性欲望评分［（3.33±0.85）、（3.95±0.73）分；P<0.001］、性唤起评分［（4.43±0.77）、（4.56±0.63）分；P=0.422］、阴道润滑程度评分［（4.37±0.56）、（5.20±0.67）分；P<0.001］和满意度评分［（4.88±0.98）、（4.65±0.86）分；P=0.269］方面均不劣于对照组。功能学成功的观察组患者各项性功能障碍的发生率与对照组比较显示，性欲低下［分别为3%（1/40）、23%（9/40）；P=0.007］和阴道润滑障碍［分别为5%（2/40）、25%（10/40）；P=0.012］的发生率显著低于对照组，而性唤起障碍［均为3%（1/40）；P>0.999］、性高潮障碍［分别为40%（16/40）、20%（8/40）；P=0.051］、性交痛［分别为30%（12/40）、15%（6/40）；P=0.108］的发生率无显著差异。顶压过程中出现的并发症主要包括轻中度阴道疼痛（67%，30/45）、阴道点滴出血（33%，15/45）和尿路刺激征（9%，4/45）。 结论： 无创的顶压法人工阴道成形术成功率高，并发症轻微，患者性生活满意度高。应当推广顶压法作为MRKH综合征患者阴道重建的一线治疗方案，减少不必要的手术。.

While maternal exposure to high metal levels during pregnancy is an established risk factor for birth defects, the role of paternal exposure remains largely unknown. We aimed to assess the associations of prenatal paternal and maternal metal exposure and parental coexposure with birth defects in singletons. This study conducted within the Jiangsu Birth Cohort recruited couples in early pregnancy. We measured their urinary concentrations for 25 metals. A total of 1675 parent-offspring trios were included. The prevalence of any birth defects among infants by one year of age was 7.82%. Paternal-specific gravity-corrected urinary concentrations of titanium, vanadium, chromium, manganese, cobalt, nickel, copper, and selenium and maternal vanadium, chromium, nickel, copper, selenium, and antimony were associated with a 21-91% increased risk of birth defects after adjusting for covariates. These effects persisted after mutual adjustment for the spouse\'s exposure. Notably, when assessing the parental mixture effect by Bayesian kernel machine regression, paternal and maternal chromium exposure ranked the highest in relative importance. Parental coexposure to metal mixture showed a pronounced joint effect on the risk of overall birth defects, as well as for some specific subtypes. Our findings suggested a couple-based prevention strategy for metal exposure to reduce birth defects in offspring.

暂无摘要。

Birth defects are the leading cause of mortality in newborn babies and children under five years old. In response, the Chinese government has implemented a three-tiered prevention strategy, which has brought ethical concerns about fetuses with birth defects. This study aims to explore the attitudes toward fetuses with birth defects among health professionals engaged in maternal and child health services.
A qualitative study was conducted among 13 health professionals engaged in maternal and child health services in Hunan Province, China. The questions were designed to elicit the participants\' work experience and attitudes toward fetuses with birth defects. The data were collected through in-depth semi-structured interviews, and NVivo 12 was used for data coding and analysis. A thematic analysis approach was employed following the SRQR checklist.
Five themes and 13 attributes were generated regarding health professionals\' perspectives on fetuses with birth defects. The five themes included: (1) severity and curability of diseases (two attributes), (2) family relations (four attributes), (3) medical assessments (two attributes), (4) social situations (three attributes), (5) self-value orientations (three attributes). The findings showed that the majority of health professionals held the view that a fetus with a curable disease could be born, whereas a fetus with severe disability and teratogenesis should be terminated. Twelve out of the 13 health professionals believed that parents should be the decision-makers, while only one thought that the family should make a decision together.
Attitudes toward birth defects were influenced by various factors, indicating the complexity of real-world cases identified in this study. The findings highlight the dilemmas faced by both families and health professionals regarding birth defects. Adequate medical knowledge and support from society are crucial to inform decision-making among family members. Additionally, standardized norms and policies for birth defects are needed. Establishing an ethics committee for prenatal diagnosis is necessary to address current ethical issues in this field.

OBJECTIVE: This meta-analysis aimed to comprehensively assess the teratogenic risk to offspring associated with continuing pregnancy after administering mifepristone and/or misoprostol during gestation.
METHODS: We conducted a systematic search of multiple databases, including PubMed, Web of Science, Embase, Cochrane, CNKI, and CBM, from their inception to February 2024, with no language restrictions. We included cohort and case-control studies that analyzed the teratogenic effects of mifepristone and/or misoprostol on fetuses and newborns. Quality assessment was performed using the Newcastle-Ottawa Scale (NOS). The odds ratios (OR) from individual studies were combined using meta-analysis. Sensitivity testing and heterogeneity analysis were conducted.
RESULTS: A total of 13 studies were eligible for inclusion, comprising 5193 cases of congenital malformations and 12,232 controls.
CONCLUSIONS: Our findings indicated that the use of misoprostol during early pregnancy increased the risk of congenital abnormalities in offspring (OR = 2.69; 95% CI: 1.57-4.62). However, the potential teratogenic effect of mifepristone during pregnancy cannot be ruled out. Additionally, the use of mifepristone and/or misoprostol has been linked to a higher risk of certain congenital anomalies, such as hydrocephalus (OR = 3.41; 95% CI: 1.17-9.97), Möbius syndrome (OR = 26.48; 95% CI: 11.30-62.01), and terminal transverse limb defects (OR = 10.75; 95% CI: 3.93-29.41). (PROSPERO, CRD42024522093, 03182024).

Birth defect and perinatal death are major public issues threatening the health of women and children in China. However, perinatal death attributed to birth defects has not yet received sufficient attention. To minimize the occurrence of perinatal death caused by birth defects, this review article deeply analyzed the current status of epidemiology, clinical, and basic research on perinatal death attributed to birth defects both domestically and internationally, and proposed to encourage the conduct of national research on perinatal causes. We should also pay attention to the application of the perinatal cause of death classification system, and focus on accurate diagnosis and the three-level prevention and control of perinatal death attributed to birth defect.
出生缺陷与围产儿死亡是威胁我国妇幼健康的重大公共卫生问题，但归因于出生缺陷的围产儿死亡尚未得到重视。为减少因出生缺陷导致的围产儿死亡的发生，本文通过深度解析国内外归因于出生缺陷的围产儿死亡的流行病学、临床和基础研究现状，提出应鼓励开展全国性围产儿死因监测的研究，重视围产儿死因分类系统的推广应用，聚焦归因于出生缺陷的围产儿死亡的精准诊断，同时，重视因出生缺陷导致的围产儿死亡的三级预防。.

To describe the fetal death rate of birth defects (including a broad range of specific defects) and to explore the relationship between fetal deaths from birth defects and a broad range of demographic characteristics. Data was derived from the birth defects surveillance system in Hunan Province, China, 2016-2020. Fetal death refers to the intrauterine death of a fetus at any time during the pregnancy, including medical termination of pregnancy. Fetal death rate is the number of fetal deaths per 100 births (including live births and fetal deaths) in a specified group (unit: %). The fetal death rate of birth defects with 95% confidence intervals (CI) was calculated by the log-binomial method. Crude odds ratios (ORs) were calculated to examine the relationship between each demographic characteristic and fetal deaths from birth defects. This study included 847,755 births, and 23,420 birth defects were identified. A total of 11,955 fetal deaths from birth defects were identified, with a fetal death rate of 51.05% (95% CI 50.13-51.96). 15.78% (1887 cases) of fetal deaths from birth defects were at a gestational age of < 20 weeks, 59.05% (7059 cases) were at a gestational age of 20-27 weeks, and 25.17% (3009 cases) were at a gestational age of ≥ 28 weeks. Fetal death rate of birth defects was higher in females than in males (OR = 1.25, 95% CI 1.18-1.32), in rural than in urban areas (OR = 1.43, 95% CI 1.36-1.50), in maternal age 20-24 years (OR = 1.35, 95% CI 1.25-1.47), and ≥ 35 years (OR = 1.19, 95% CI 1.11-1.29) compared to maternal age of 25-29 years, in diagnosed by chromosomal analysis than ultrasound (OR = 6.24, 95% CI 5.15-7.55), and lower in multiple births than in singletons (OR = 0.41, 95% CI 0.36-0.47). The fetal death rate of birth defects increased with the number of previous pregnancies (χ2trend = 49.28, P < 0.01), and decreased with the number of previous deliveries (χ2trend = 4318.91, P < 0.01). Many fetal deaths were associated with birth defects. We found several demographic characteristics associated with fetal deaths from birth defects, which may be related to the severity of the birth defects, economic and medical conditions, and parental attitudes toward birth defects.

To describe the prevalence and death rate of birth defects from population-based surveillance in Hunan Province, China. Data were obtained from the population-based Birth Defects Surveillance System in Hunan Province, China (2010-2020). The surveillance population included all live births, stillbirths, infant deaths, and legal terminations of pregnancy from 28 weeks of gestation to 42 days after birth between 2010 and 2020 when the mother resided in the surveillance area (Liuyang County and Shifeng District, Hunan Province). The prevalence of birth defects is the number of birth defects per 1000 infants (‰). The death rate of birth defects is the number of deaths attributable to birth defects per 100 birth defects (%). The prevalence and death rate with 95% confidence intervals (CI) were calculated by the log-binomial method. Crude odds ratios (ORs) were calculated to examine the association of each demographic characteristic with birth defects. Our study included 228,444 infants, and 4453 birth defects were identified, with a prevalence of 19.49‰ (95%CI 18.92-20.07). Congenital heart defects were the most common specific defects (5.29‰), followed by limb defects (4.01‰). Birth defects were more common in males than females (22.34‰ vs. 16.26‰, OR = 1.38, 95%CI 1.30-1.47), in premature birth than not (91.82‰ vs. 16.14‰, OR = 6.16, 95%CI 5.72-6.65), in birth weight < 2500 g (98.26‰ vs. 16.22‰, OR = 6.61, 95%CI 6.11-7.15) or > 4000 g (19.48‰ vs. 16.22‰, OR = 1.21, 95%CI 1.03-1.42) than birth weight 2500-4000 g, in hospitalized deliveries than other institutions (22.16‰ vs. 11.74‰, OR = 1.91, 95%CI 1.76-2.07), in multiple births than singletons (28.50‰ vs. 19.28‰, OR = 1.49, 95%CI 1.27-1.76), in maternal age < 20 years (26.33‰ vs. 18.69‰, OR = 1.42, 95%CI 1.15-1.76) or >  = 35 years (24.31‰ vs. 18.69‰, OR = 1.31, 95%CI 1.18-1.45) than maternal age 25-29 years, and in number of pregnancies >  = 4 (22.91‰ vs. 18.92‰, OR = 1.22, 95%CI 1.10-1.35) than the first pregnancy. A total of 747 deaths attributable to birth defects were identified, including 603 (80.72%) stillbirths, 75 (10.04%) deaths within 7 days after birth, 46 (6.16%) deaths in 7-27 days after birth, 23 (3.08%) deaths in 28-42 days after birth. The death rate of birth defects was 16.78% (95%CI 15.57-17.98). Deaths attributable to birth defects accounted for 51.09% (747/1462) of all deaths. Central nervous system defects had the highest death rate (90.27%), and neonatal genetic metabolic defects had the lowest death rate (0.39%). In summary, we have described the prevalence and epidemiology of birth defects from population-based surveillance in Hunan Province, China, 2010-2020. There were differences in the prevalence and death rate of birth defects between population-based surveillance and hospital-based surveillance.

OBJECTIVE: We investigate the feasibility, safety, and clinical therapeutic effect of laparoscopic sigmoid vaginoplasty in women with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome.
METHODS: We performed a retrospective case review cohort study of 56 patients with MRKHs undergoing laparoscopic sigmoid vaginoplasty in Wuhan Union Hospital between 2000 and 2020, and all patients were followed up.
RESULTS: The median operating time was 165 min (120-420 min). The median hospital stay was 10 days (rang 7-15 days). A functional neovagina was created 11-15 cm in length and two fingers in breadth in all patients. No introitus stenosis was observed. No intra- or post-operative complications occurred. Two patients were lost to follow-up after 3 months of outpatient visits. Six patients had no intercourse and were required to wear a vaginal mold occasionally. None of the patients had complained of local irritation or dyspareunia. Patients who had post-surgery sexual intercourse were satisfied with their sexual life and the mean total Female Sexual Function Index (FSFI) score was 25.17 ± 0.63. The cosmetic results were excellent.
CONCLUSIONS: The laparoscopic sigmoid vaginoplasty can achieve the goal of making a functional neovagina. The main advantage of this surgical technique is that it is minimally invasive and that there are fewer complications post-operation. It is an acceptable procedure for patients with MRKH syndrome.

BACKGROUND Laparoscopic-perineal neovagina construction by sigmoid colpoplasty is a popular therapeutic approach for patients with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. The conventional approach requires an auxiliary abdominal incision to exteriorize the descending colon to fix the anvil for end-to-end colorectal anastomosis. We modified the natural orifice specimen extraction surgery (NOSES) approach by exteriorizing the descending colon through the artificial neovaginal tunnel to replace the anvil extracorporeally, without requiring an auxiliary abdominal incision. It was a more minimally invasive technique. CASE REPORT We performed this modified laparoscopic-perineal sigmoid colpoplasty in a 26-year-old woman with MRKH syndrome. We cut off a segment of the sigmoid colon with a vascular pedicle to make a new vagina out of it, the same as in the traditional laparoscopic-perineal sigmoid colpoplasty. What is new about this technique is that it has no need for abdominal incision and is more minimally invasive. The operating time was 315 min. No postoperative complications occurred. The postoperative hospital stay was 4 days. The modified laparoscopic-perineal approach, free from an auxiliary abdominal incision, demonstrated advantages, including a shorter hospital stay, expedited recovery, and comparable anatomical outcomes, when compared with the traditional approach. This innovation improves the surgical experience for patients with MRKH syndrome, addressing the physical and psychological aspects of their condition. CONCLUSIONS This refined laparoscopic-perineal neovagina construction by sigmoid colpoplasty represents a feasible and minimally invasive technique. It is an attractive option for MRKH syndrome patients in need of vaginal reconstruction, offering a streamlined procedure with reduced postoperative recovery time and enhanced patient outcomes.