To analyze temporal trends and geographic variations in infant mortality rate associated with congenital diaphragmatic hernia (CDH-IMR) in the United States. From 2007 to 2021, we used CDC-WONDER linked birth/death data to identify CDH-related infant deaths (ICD-10 code: Q79 as the underlying cause of death), analyze annual CDH-IMR trends, and explore associations with sex, gender, gestational age (GA), and U.S. state of birth. Descriptive statistics were derived, and bivariate analyses were conducted to discern differences in CDH-IMR by gender, race, and GA. CDH-IMR was expressed per 100,000 live births with Poisson-modeled 95% confidence intervals, and trends were assessed through joinpoint regression to extrapolate annual percent change (APC). Between 2007 and 2021, 59,117,761 live births and 3391 CDH-related infant deaths were recorded. CDH infant deaths accounted for 0.96% of all infant deaths and occurred in 0.006% of live births. The mean CDH-IMR was 5.7 (95% CI: 5.5-5.9) per 100,000 live births, with a significant downward trend (APC: -1.3%, [95% CI: -2.0, -0.5, p < 0.01]). Asian infants had a lower risk of mortality (RR 0.66 [95% CI: 0.55, 0.79]) compared to White infants, and higher GA at birth correlated with better survival. Regional analysis revealed a median CDH-IMR (IQR) of 5.9 (4.7, 7.2), with a three-fold variation across U.S. states. In this national population-based U.S. study, we observed a decreasing trend in CDH-IMR. However, significant variation in CDH mortality persists by region, gender, and race. Despite evidence of current CDH care is associated with a decreasing trend in mortality, there remain many opportunities for equitable improvement in outcomes across race, gender and by geographic region.

The TMPRSS6 gene encodes matriptase-2, a serine protease that negatively regulates hepcidin and thus governs systemic iron homeostasis. Common polymorphisms have been implicated in altered iron indices in normal populations. To date, no systematic review has comprehensively assessed the impact of TMPRSS6 on maternal iron status and pregnancy outcomes. This review aims to elucidate the molecular mechanisms and clinical impact of TMPRSS6 variants on maternal iron status and obstetric complications. A systematic review was conducted in accordance with PRISMA guidelines. English-language articles published between 2015 and 2024 were retrieved from PubMed, Crossref, OpenAlex, and Google Scholar. Eligible studies assessed TMPRSS6 genotypes in relation to iron biomarkers and obstetric complications. Seven studies met inclusion criteria. Of 1243 articles identified, seven studies (n = 1094 pregnant participants) met inclusion criteria. The rs855791 T-allele and rs4820268 G-allele consistently correlated with lower serum iron, reduced transferrin saturation, and elevated unsaturated iron-binding capacity. These variants increased risks of iron-deficiency anemia, gestational diabetes mellitus, and preeclampsia. Functional analyses indicated that altered matriptase-2 activity leads to inappropriately high hepcidin, impaired dietary iron absorption, and downstream metabolic disturbances. TMPRSS6 polymorphisms play a central role in disrupting iron regulation and contribute to obstetric complications. Incorporating TMPRSS6 genotyping into prenatal care may facilitate personalized risk stratification and optimized iron supplementation strategies.

This study aimed to examine the preconception care awareness and knowledge of couples preparing for marriage. The sample of this cross-sectional study consisted of 240 engaged couples who applied for marriage to the marriage directorate of a central district municipality in the Mediterranean Region of Türkiye. The researchers collected the data through face-to-face interviews using the "Personal Information Form" and "Preconception Care Awareness and Information Form." While 71.7% of women and 45.4% of men are 25 years old and below, 76.3% of women and 64.6% of men have a high school education or above. It was reported that 54.2% of women and 56.3% of men planned to have children immediately or 1 year after marriage. It was found that 8.8% of women and 4.2% of men had heard of the concept of preconception care, and there was a significant difference between women and men in terms of hearing the concept of preconception care (p < 0.05). The mean preconception care knowledge score of the participants was 59.26 ± 31.85 (possible scores are between 0 and 100). In this study, gender, educational status, occupation, presence of a disease that may affect health during pregnancy, presence of a genetic disease in the family, and planned time to have a child after marriage were determined as factors affecting knowledge of preconception care. In this study, the rate of hearing the concept of preconception care among couples preparing for marriage is quite low, while their knowledge regarding its content and benefits is at an intermediate level. It is important to increase the awareness of preconception care in couples preparing for marriage and to eliminate the information gap.

The growing prevalence of methamphetamine abuse has been regarded as a matter of great concern due to its damaging impact on public health worldwide. Our study aimed to perform a systematic review of the literature with meta-analysis to evaluate the association between prenatal methamphetamine exposure, Preterm Birth (PTB) Low Birth Weight (LBW), and being Small for Gestational Age (SGA). Later on, we investigated the association between prenatal methamphetamine use and the aforementioned birth defects. We conducted a systematic search of English-language articles in Web of Science, Scopus, and PubMed from inception to December 24, 2021, identifying 1223 observational studies. After removing duplicates, 911 articles remained for title and abstract screening, of which 868 were excluded. Following a full-text review of 43 studies, 35 were excluded due to insufficient data, leaving eight studies for meta-analysis. Data were analyzed using Stata 15.0, with Odds Ratio (OR) (95% Confidence Intervals (CI)) as effect sizes. Subgroup analysis was performed by sample type (urine, meconium, and …), and heterogeneity was assessed using the Chi-square test (I2 more than 50% was considered heterogenic), applying fixed- or random-effects models accordingly. Publication bias was evaluated via Egger's test and funnel plots, and sensitivity analysis was conducted to assess result robustness. Prenatal exposure to methamphetamine was found to be associated with PTB (OR 2.64; 95% CI 1.89-3.70), LBW (OR 2.83; 95% CI 1.09-7.38), and SGA (OR 1.44; 95% CI 1.04-1.99). Our meta-analysis shows a substantial association between prenatal exposure to methamphetamine and PTB, LBW, and being SGA.

There is a high prevalence of neural tube defects (NTDs) and nutritional anemias that increase the risk of birth defects in India. The current staple food fortification regulations for folic acid and vitamin B12 are ineffective in the country. We provide an evidence-based viewpoint urging for WHO-recommended levels of fortificants (i.e., 1300 mcg of folic acid and 10 mcg of vitamin B12 per kilogram of wheat flour or rice) to be included in the regulation. Micronutrient fortified foods are being distributed through various governmental safety-net programs under the National Food Security Act in India. Packaged flour produced by some private companies is fortified. Food fortification regulation, recommended in 2018 by the Food Safety and Standards Authority of India, allows adding 75-125 micrograms (mcg) of folic acid per kilogram (kg), and 0.75-1.25 mcg of vitamin B12 per kg, as fortificants in wheat flour or rice. These levels are 90% lower than what WHO recommends based on daily consumption of staple foods in India. Re-setting fortification standards for folic acid and vitamin B12 to levels recommended by the WHO in India will avert thousands of NTD-associated pregnancies each year, as well as morbidity and mortality associated with them.

Maternal vaccines are upcoming. A clear picture of the adverse events (AEs) after maternal vaccination and whether this is comparable to a nonpregnant population is important. The objective of our study was to compare perceived AEs after COVID-19 vaccination between pregnant and nonpregnant women and to study if it is feasible to compare AEs within two independent Dutch cohort studies. Data from the Dutch Pregnancy Drug Register (DPDR) and the cohort event monitoring (CEM) study on COVID-19 vaccines were used. At least one self-reported (solicited) AE, more than one AE, and specific self-reported AEs after the first doses of an mRNA COVID-19 vaccine were compared between pregnant and nonpregnant women using multivariable logistic regression analysis. The pattern of AEs was similar between pregnant (n = 2204) and nonpregnant (n = 2684) women, with the four most frequently reported AEs being: injection site reaction, myalgia, fatigue, and headache. Pregnant women reported less often at least one AE compared to nonpregnant women (65.9% vs. 72.3%; adjusted odds ratio [aOR] = 0.78; 95% confidence interval [CI] = 0.67-0.90), more than one AE, or specific AEs: nausea, chills, pyrexia, and arthralgia. Myalgia was more often reported among pregnant women compared to nonpregnant women. Pregnant women perceived comparable or less often AEs after the first mRNA COVID-19 vaccination compared to nonpregnant women. The results aid pregnant women in making an informed decision about vaccination. A comparison between the pregnancy registry and the CEM study was feasible and this method can be used to compare AEs for other/future maternal vaccines.

Externally attached supra-numerary body structures are a rare congenital malformation. Dysmorphogenesis remains controversial, hence many different classifications have been proposed over the years. We report a case of a supra-numerary lower limb grafted onto a sacrococcygeal mass in a child with a myelomeningocele. Prevailing theories for its origin are revised as well as prenatal and postnatal management. The case relates to a female neonate with a third lower limb grafted to a lumbosacral mass found upon birth. Postnatal imaging revealed a lipomyelomeningocele and a supra-numerary limb. Surgical intervention was performed on day seven of life with removal of the supra-numerary limb and correction of the dural defect. Anatomopathologic study revealed mature and dysplastic tissues of the three germlines. The infant was discharged after 16 days to follow-up by a multidisciplinary team. In early follow-up, minor asymmetry in lower limb mobility, peri-anal anesthesia, and bladder incontinence was present. Currently 8 years old, the patient has no motor or sensory dysfunction. This case challenges the existing theories for conjoined twinning, as they do not fully explain the co-occurrence of neural tube defects in sacrally fused supra-numerary structures. Whether these malformations are entities of a single disease spectrum or the result of independent dysmorphogenesis is debated. Prenatal diagnosis with sequential investigation of morphogenesis as well as postnatal anatomopathological examination are crucial for a better understanding of complex biologic processes.

Although many factors are associated with gastroschisis risk, studies have not systematically explored whether they account for its increasing frequency over the past decades or its inverse association with maternal age. We examined whether previously reported risk factors for gastroschisis from the National Birth Defects Prevention Study (NBDPS) explain the association with increasing temporal prevalence or young maternal age. Using data from the NBDPS (1997-2011), crude odds ratios (ORs) were calculated for birth years 2005-2011 versus 1997-2004 and maternal age < 25 versus 25+ years. We then adjusted for 16 factors separately with logistic regression (paternal age, interpregnancy interval, parity, alcohol, cigarettes, illicit drugs, oral contraceptives, cold/flu with fever, genitourinary infection, polycyclic aromatic hydrocarbons, diet quality, prepregnancy body mass index, parental race and ethnicity, language spoken at home, years lived in the United States, and household income). The birth year OR (1.28; 95% CI: 1.14, 1.44) was attenuated by 16% after adjustment for polycyclic aromatic hydrocarbon exposure (OR 1.08; 95 CI: 0.92, 1.26). The young maternal age OR (7.76; 95% CI: 6.71, 8.97) was attenuated by 30% after adjustment for paternal age (OR 5.43; 95% CI: 4.55, 6.48) and separately for interpregnancy interval (OR 5.45; 95% CI: 4.43, 6.69). Some evidence suggests that risk factors for gastroschisis account for small amounts of the time trend and maternal age associations. However, it remains unclear what factors underlie the complete calendar time or maternal age associations.