BACKGROUND: Brownfields consist of abandoned and disused sites, spanning many former purposes. Brownfields represent a heterogenous yet ubiquitous exposure for many Americans, which may contain hazardous wastes and represent urban blight. Neonates and pregnant individuals are often sensitive to subtle environmental exposures. We evaluate if residential exposure to lead (Pb) brownfields is associated with birth defects.
METHODS: Using North Carolina birth records from 2003 to 2015, we sampled 169,499 births within 10 km of a Pb brownfield with 3255 cardiovascular, central nervous, or external defects identified. Exposure was classified by binary specification of residing within 3 km of a Pb brownfield. We utilized multivariable logistic regression models adjusted for demographic covariates available from birth records and 2010 Census to estimate odds ratios (OR) and 95% confidence intervals (CI). Effect measure modification was assessed by inclusion of interaction terms and stratification for the potential modifiers of race/ethnicity and diabetes status.
RESULTS: We observed positive associations between cardiovascular birth defects and residential proximity to Pb brownfields, OR (95%CI): 1.15 (1.04, 1.26), with suggestive positive associations for central nervous 1.16 (0.91, 1.47) and external defects 1.19 (0.88, 1.59). We did observe evidence of effect measure modification via likelihood ratio tests (LRT) for race/ethnicity for central nervous and external defect groups (LRT p values 0.08 and 0.02). We did observe modification by diabetes status for the cardiovascular group (LRT p value 0.08).
CONCLUSIONS: Our results from this analysis indicate that residential proximity to Pb brownfields is associated with cardiovascular birth defects with suggestive associations for central nervous and external defects. In-depth analyses of individual defects and other contaminants or brownfield site functions may reveal additional novel associations.

BACKGROUND: Living in high-altitude regions has been associated with a higher prevalence of some birth defects. Moderate altitudes (1500-2500 m) have been associated with some congenital heart diseases and low birth weight. However, no studies have been conducted for other isolated congenital malformations.
OBJECTIVE: To estimate the prevalence at birth of isolated congenital malformations in low and moderate altitudes and to determine if moderate altitudes are a risk factor, such as high altitudes, for isolated congenital malformations adjusted for other factors.
METHODS: The study consisted of a case-control multicenter-multiregional study of 13 isolated congenital malformations. Cases included live births with isolated congenital malformations and controls at low (10-1433 m) and moderate altitudes (1511-2426 m) from a Mexican registry from January 1978 to December 2019. Prevalence per 10,000 (95% CI) per altitude group was estimated. We performed unadjusted and adjusted logistic regression models (adjusted for maternal age, parity, malformed relatives, socioeconomic level, and maternal diabetes) for each isolated congenital malformation.
RESULTS: Hydrocephaly and microtia had a higher at-birth prevalence, and spina bifida, preauricular tag, and gastroschisis showed a lower at-birth prevalence in moderate altitudes. Moderate altitudes were a risk factor for hydrocephaly (aOR 1.39), microtia (aOR 1.60), cleft-lip-palate (aOR 1.27), and polydactyly (aOR 1.32) and a protective effect for spina bifida (aOR 0.87) compared with low altitudes.
CONCLUSIONS: Our findings provide evidence that moderate altitudes as higher altitudes are an associated risk or protective factor to some isolated congenital malformations, suggesting a possible gradient effect.

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。.

OBJECTIVE: There is currently no consensus about managing upper airway obstruction (UAO) in infants with Robin sequence (RS), in terms of treatment efficacy or clinical outcomes. This study describes UAO management in UK/Ireland, and explores relationships between patient characteristics, UAO management, and clinical outcomes in the first 2 years of life.
METHODS: Active surveillance of RS throughout UK/Ireland via the British Paediatric Surveillance Unit and nationally commissioned cleft services. Clinical data were collected at initial notification and 12-month follow-up.
RESULTS: 173 infants with RS were identified, of which 47% had additional congenital anomalies or an underlying syndrome (non-isolated RS). Two-thirds (n = 119) required an airway intervention other than prone positioning: non-surgical in 84% and surgical (tracheostomy) in 16%. Nasopharyngeal airway (NPA) was the most common intervention, used in 83% (n = 99) for median 90 days (IQR 136). Surgical UAO management was associated with prolonged hospital admission, higher prevalence of neurodevelopmental delay (NDD), lower weight-for-age z-scores, and delayed oral feeding. These findings were not attributable to a higher prevalence of non-isolated RS in this group. Although more commonly associated with non-isolated RS, growth faltering was also identified in 48%, and NDD in 18%, of cases of isolated RS.
CONCLUSIONS: In UK/Ireland, most infants with RS are managed with NPA, and tracheostomy is reserved for refractory severe UAO. Clinical outcomes and duration of use indicate that NPA is a safe and feasible first-line approach to UAO. Longitudinal assessment of neurodevelopment and growth is imperative, including in children with isolated RS. Current variations in practice reinforce the need for evidence-based treatment guidelines.

BACKGROUND: We investigated patient experience with abortion for fetal anomaly, about which little is known.
METHODS: This qualitative, longitudinal pilot study surveyed 7 patients twice after abortion for fetal anomaly, initially 4 to 5 days after the abortion and a follow-up 3 months post-abortion, at a single Wisconsin hospital from July 2012 to February 2014.
RESULTS: Patients indicated that having a choice to have an abortion and choose the modality is imperative, and they remained certain in their decision-making over time. They also described initially strong, then lacking, social support; processed grief; and identified resource constraints.
CONCLUSIONS: Patients emphasized the importance of having the choice to choose abortion and the abortion modality, remaining confident in their decision-making over time. This qualitative pilot study provides areas for future intervention to improve care for people undergoing abortion for fetal anomaly.

To evaluate the risk of major congenital anomalies according to infection with or vaccination against covid-19 during the first trimester of pregnancy.
Prospective Nordic registry based study.
Sweden, Denmark, and Norway.
343 066 liveborn singleton infants in Sweden, Denmark, and Norway, with an estimated start of pregnancy between 1 March 2020 and 14 February 2022, identified using national health registries.
Major congenital anomalies were categorised using EUROCAT (European Surveillance of Congenital Anomalies) definitions. The risk after covid-19 infection or vaccination during the first trimester was assessed by logistic regression, adjusting for maternal age, parity, education, income, country of origin, smoking, body mass index, chronic conditions, and estimated date of start of pregnancy.
17 704 (5.2%) infants had a major congenital anomaly. When evaluating risk associated with covid-19 infection during the first trimester, the adjusted odds ratio ranged from 0.84 (95% confidence interval 0.51 to 1.40) for eye anomalies to 1.12 (0.68 to 1.84) for oro-facial clefts. Similarly, the risk associated with covid-19 vaccination during the first trimester ranged from 0.84 (0.31 to 2.31) for nervous system anomalies to 1.69 (0.76 to 3.78) for abdominal wall defects. Estimates for 10 of 11 subgroups of anomalies were less than 1.04, indicating no notable increased risk.
Covid-19 infection and vaccination during the first trimester of pregnancy were not associated with risk of congenital anomalies.

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.

UNASSIGNED: Multilevel obstruction in left ventricular inflow and outflow predisposes to arrhythmias in Shone\'s complex (SC).
UNASSIGNED: The purpose of this study was to study the prevalence and outcomes (heart failure [HF] hospitalization, cardiac transplant, death) of cardiac arrhythmias in adults with SC.
UNASSIGNED: Adults with SC (defined as ≥2 lesions out of supramitral ring, parachute mitral valve, subvalvular/valvular aortic stenosis (AS), and aortic coarctation) seen at Mayo Clinic between January 1999 and March 2020 were identified and evaluated for the presence of sustained atrial fibrillation, atrial flutter, and ventricular arrhythmias (VA). Kaplan-Meier survival analysis was used to calculate the occurrence of these arrhythmias.
UNASSIGNED: Seventy-three patients with SC (mean age at first visit 33 ± 13 years) were identified. Most common anomalies were valvular AS (88%), coarctation (85%), parachute mitral valve (44%), subvalvular AS (44%), and supramitral ring (25%). Atrial arrhythmias were diagnosed in 24 patients (33%) at a mean age of 34.6 ± 12.7 years. Patients with atrial fibrillation and atrial flutter had higher number of surgeries, left atrial size, right ventricular systolic pressure, and HF hospitalizations. A rhythm control approach was used in majority of patients (75% on antiarrhythmic drugs and 50% underwent catheter ablation). Sustained VA occurred in 6 of 73 patients of whom 4 had an ejection fraction <40%. Death and cardiac transplantation occurred in 11 and 3 patients, respectively, during a median follow-up of 7.3 ± 6.0 years.
UNASSIGNED: In adults with SC, atrial arrhythmias occurred in one-third of patients, were associated with more HF hospitalizations, and frequently required rhythm control. Prevalence of sustained VA was 8% and implantable cardioverter-defibrillator implantation should be considered in those with reduced ejection fraction.