Maternal and neonatal tetanus (MNT) has historically posed a severe threat to the lives of mothers and newborns. Since the 19th century, clean delivery practices and vaccination with tetanus toxoid have been effective means of preventing MNT. However, the process of global elimination of MNT remains slow, especially in areas with scarce medical resources. Most countries have adopted the strategy of vaccinating pregnant women to eliminate MNT. In contrast, China chose a more challenging strategy by increasing the hospital delivery rate and improving maternal and child health in rural areas, successfully eliminating MNT in 2012. Maintaining this achievement is not easy. In the future, nations should strengthen cooperation, share successful experiences, and collectively strive to eliminate MNT worldwide. This article reviews the medical cognitive process of MNT and introduces the progress of global MNT elimination program and the prevention and control strategies in China.

Objective:To explore the genetic etiology of congenital solitary functioning kidney (CSFK).Methods:This retrospective study included 422 fetuses diagnosed with CSFK by prenatal ultrasound who underwent invasive prenatal genetic testing at Guangdong Women and Children Hospital between January 2015 and February 2023. These CSFK fetuses were classified into different subtypes (unilateral renal agenesis and unilateral multicystic dysplastic kidney) and divided into the isolated group ( n=312) and the non-isolated group ( n=110) based on whether there were other associated abnormalities. The results of G-banding karyotyping, chromosomal microarray analysis (CMA), and whole-exome sequencing (WES) among fetuses with different subtypes or from different groups were analyzed. Statistical analysis was performed using the Chi-square (or Fisher's exact) test and rank-sum test. Results:(1) The median maternal age at the time of invasive prenatal diagnosis was 29 years (range: 18-43 years), and the median gestational age was 25 weeks (range: 17-34 weeks). Among the 422 cases, 234 underwent karyotyping and CMA, 63 underwent CMA and WES, and seven underwent all three tests. Therefore, karyotyping, CMA, and WES were completed in 257, 406, and 70 cases, respectively. (2) The detection rate of chromosomal abnormality by G-banding karyotyping was 1.6% (4/257). Among these four cases, CMA detected no abnormalities in one case with chromosomal mosaicism, while the CMA results were consistent with G-banding karyotyping in three cases with chromosomal structural rearrangements. (3) CMA results: The CNV detection was 8.9% (36/406), with 22 cases being classified as pathogenic/likely pathogenic CNVs. Common CNV loci included 17q12 (five cases), 22q11.21 (five cases), and 16p11.2 (two cases). Fifteen cases (68.2%) were associated with microdeletion syndromes. Nineteen mothers opted for pregnancy termination, two continued the pregnancies, and one was lost to follow-up. (4) Among the 241 cases that underwent both G-banding karyotyping and CMA (including seven cases with all three tests), the positive rates for G-banding karyotyping and CMA were 1.7% (4/241) and 5.8% (14/241), respectively. Compared to G-banding karyotyping, CMA provided an additional diagnostic yield of 4.1% (10/241). (5) Among the 70 cases that underwent family-based WES, 26 (37.1%) showed abnormal results, including 12 pathogenic/likely pathogenic variants and 14 variants of uncertain significance. The positive rateby WES was 17.1% (12/70). Six gene variants (mainly PKD1 and HNF1B variants) were associated with the CSFK phenotype, including five autosomal dominant and one autosomal recessive inheritance. Among the 12 WES-positive cases, six had heterozygous variants and six had compound heterozygous variants. Eight mothers chose to continue the pregnancy, two opted for termination, and two were lost to follow-up. (6) Among the 422 CSFK fetuses, 35 (8.3%) had genetic abnormalities. The highest genetic abnormality rate was observed in CSFK fetuses with isolated urinary system abnormalities (15.1%, 8/53), followed by those with additional non-urinary system abnormalities (12.3%, 7/57), and isolated CSFK fetuses (6.4%, 20/312). The differences among the three groups were statistically significant ( χ2=5.95, P=0.048), but no significant differences were found in pairwise comparisons. Conclusion:The primary genetic etiologies of CSFK fetuses include 17q12 microdeletion syndrome, 22q11.2 microdeletion syndrome, and variants in the PKD1 and HNF1B genes.

This paper reported a central nervous system infection caused by Bacillus cereus in a neonate. The patient was born prematurely at 33 weeks of gestation and 1 day. He was transferred to Tongji Hospital affiliated to Tongji Medical College, Huazhong University of Science and Technology, on October 5, 2022 (day 38 of life), due to recurrent fever. Multiple cerebrospinal fluid and head MRI examinations indicated purulent meningitis with abscesses formation, though repeated blood and cerebrospinal fluid cultures were negative. At 38 days of life, metagenomic next-generation sequencing of the cerebrospinal fluid pathogens revealed the presence of the Bacillus cereus group. The patient was treated with vancomycin followed by sequential linezolid for anti-infective therapy, leading to significant improvement. The patient was discharged on day 67 of life. Follow-up at 98 days of life showed improved head MRI findings and symptom resolution. At 2 years of age, telephone follow-up indicated normal growth and development with no abnormalities.

The history of cystic fibrosis (CF) can be traced back to the Middle Ages when a salty taste was recognized as an early symptom. In the 1930s, Dorothy Anderson gradually revealed the characteristics and mechanisms of CF through clinical and pathological studies. In 1953, the sweat test became an important tool for diagnosing CF. In 1989, scientists identified the CFTR genes and their association with CF, leading to significant advancement in genetic research and treatment of CF. By tracing the history and research progress of CF, we witness the transition from ancient legends to modern scientific exploration. This journey not only demonstrates the advancement of medical technology but also reflects the continuous deepening of human understanding of diseases, highlighting the immense potential of scientific research in improving human health.

Objective:To explore the stratified treatment plan process for neonatal congenital chylothorax by summarizing its clinical treatment characteristics.Methods:A retrospective analysis was conducted on the clinical data of 36 neonates with congenital chylothorax treated at the Department of Neonatology of Beijing Children's Hospital, Capital Medical University, from January 1, 2010, to December 31, 2021. Based on different treatment methods and initial drainage volumes, the cases were divided into the conservative treatment group [initial drainage volume<20 ml/(kg·d), n=20], octreotide group [initial drainage volume ≥20-<30 ml/(kg·d), n=4], erythromycin group [initial drainage volume ≥30-<50 ml/(kg·d), n=6], and octreotide plus erythromycin group [initial drainage volume≥50 ml/(kg·d), n=6]. The clinical characteristics and treatment effects of the children in different treatment groups, as well as the choice of further treatment plans, were summarized to determine the timing of different treatment methods. A more standardized stratified treatment plan was formulated by combining the literature. Results:Among the 36 cases of congenital chylothorax, 18 cases (50.0%) were diagnosed in utero, with no intrauterine intervention. In the conservative treatment group, 20 cases were treated with respiratory support, thoracic drainage, and nutritional therapy. Except for one case who was discharged after abandoning treatment, the remaining 19 cases were cured. In the octreotide group, four children received continuous intravenous infusion of octreotide at doses ranging from 1 to 10 μg/(kg·h), with three cases improving and one case being cured. No adverse effects such as hypoglycemia, thyroid dysfunction, or neonatal necrotizing enterocolitis occurred. In the group of six children who received intrapleural erythromycin injections, the dosage of erythromycin was 25-30 mg/kg, and the median thoracic drainage volume was reduced to approximately 50% of the pre-treatment volume after 3-5 injections, with four cases improving and two cases being cured. In the group of six children who received octreotide combined with erythromycin, treatment involved the intravenous infusion of octreotide along with intrapleural erythromycin injections. Four cases showed improvement, and two cases were cured. Based on previous treatments and a comprehensive review of the literature, a stratified treatment flowchart with invasiveness ranging from low to high was finally formed. Conclusions:For congenital chylothorax, a stratified treatment approach is recommended based on initial drainage volume and the response to treatment. This approach ranges from conservative treatment to pharmacological treatment (intravenous infusion of octreotide). For children with poor outcomes, surgical treatment (intrapleural erythromycin injection or other surgical interventions) can be added.

Objective:To investigate the differences in electrophysiological brain development of neonates in Tibet and Beijing.Methods:This prospective cohort study included neonates with gestational ages of 28 to 40 weeks and 6 days, without asphyxia, hypoxia, or brain injury, who were born between January 2022 and June 2024 at the Tibet Autonomous Region People's Hospital and Peking University First Hospital. The first electroencephalographic (EEG) monitoring was completed within 48 hours to 7 days after birth, which included a 4-channel amplitude-integrated EEG (aEEG) and a 12-channel continuous EEG (cEEG). Two electrophysiology experts scored the EEG results according to a rating scale, and the intraclass correlation coefficient (ICC) was used to explore the consistency between different evaluators. Preterm infants with gestational ages of 32 to 36 weeks and 6 days and post-menstrual age (PMA) less than full-term at the first EEG monitoring were re-examined with aEEG and cEEG at PMA of 37 to 40 weeks and 6 days. Infants were grouped based on PMA at the first EEG monitoring. Spearman rank correlation was used to analyze the correlations between total aEEG+cEEG scores, individual aEEG and cEEG scores, and PMA, gestational age, birth weight, and head circumference at the first EEG monitoring. Mann-Whitney U test, Kruskal-Wallis H test, and Bonferroni correction were used to compare the differences in total aEEG+cEEG scores, individual aEEG and cEEG scores between Tibet and Beijing, among adjacent PMA groups, and for premature infants at full-term PMA. Results:(1) A total of 341 neonates were included in this study, including 154 cases from Tibet (nine cases in the PMA of 28-29 weeks and 6 days group, 13 cases in the PMA of 30-31 weeks and 6 days group, 28 cases in the PMA of 32-33 weeks and 6 days group, 38 cases in the PMA of 34-36 weeks and 6 days group, and 66 cases in the PMA of 37-40 weeks and 6 days group) and 187 cases from Beijing (10 cases in the PMA of 28-29 weeks and 6 days group, 10 cases in the PMA of 30-31 weeks and 6 days group, 16 cases in the PMA of 32-33 weeks and 6 days group, 91 cases in the PMA of 34-36 weeks and 6 days group, and 60 cases in the PMA of 37-40 weeks and 6 days group). (2) Inter-rater consistency:the consistency of PMA inferred based on the total aEEC+CEEC score and actual PMA was high in two raters ( ICCrater one=0.96, ICCrater two=0.94, both P<0.01). (3) The correlation between total aEEG+cEEG score and PMA ( r=0.80) was stronger than that between the aEEG alone or cEEG scores and PMA ( r were 0.79 and 0.66, respectively). The total aEEG+cEEG score also correlated with gestational age at birth ( r=0.74), birth weight ( r=0.69), and head circumference at first EEG monitoring ( r=0.69) (all P<0.01). (4) Regardless of whether in Tibet or Beijing, the total aEEG+cEEG score increased sequentially in the PMA of 30- 31 weeks and 6 days, 32-33 weeks and 6 days, 34-36 weeks and 6 days, and 37-40 weeks and 6 days groups; the cEEG score increased sequentially in the PMA of 32-33 weeks and 6 days group, 34-36 weeks and 6 days group, and 37-40 weeks and 6 days groups; the aEEG score in the PMA 32- 33 weeks and 6 days group was higher than that in the 30-31 weeks and 6 days group, and the score in the PMA 37-40 weeks and 6 days group was higher than that in the 34-36 weeks and 6 days group (Bonferroni correction, all P<0.05). (5) At PMA of 34-36 weeks and 6 days, the total aEEG+cEEG score [25 points (22-26 points) vs. 26 points (24-28 points), Z=－2.62, P=0.009] and cEEG score [12 points (12-14 points) vs. 15 points (13-16 points), Z=－4.77, P<0.001] of newborns in Tibet were lower than those in Beijing, while the aEEG score was higher than those in Beijing [12 points (10-13 points) vs. 11 points (10-12 points), Z=2.17, P=0.030]; at PMA of 37-40 weeks and 6 days, the cEEG score of newborns in Tibet was lower than those in Beijing [16 points (15-17 points) vs. 17 points (15-18 points), Z=－2.27, P=0.023]. (6) The total aEEG+cEEG score of preterm infants born at 32 to 33 weeks and 6 days in Tibet was lower at PMA full-term compared to those in Beijing [27 points (26-28 points) vs. 29 points (28 -30 points), Z=－2.94], and also lower compared to the total aEEG+cEEG score of full-term gestational age newborns in Tibet during their first EEG monitoring [29 points (27-30 points)] (both P<0.05). Conclusions:In the high-altitude hypobaric hypoxic environment, the electroencephalographic development of newborns, especially premature infants, maybe lag behind of plain areas. The combined use of aEEG+cEEG may provide a better evaluation of neonatal brain development than using cEEG or aEEG alone.

A clinical diagnosis and treatment strategy centered on "fetal phenotype" is the most fundamental aspect of prenatal genetic counseling. This article discusses how typical phenotypes help in determining genetic testing strategies, familiar phenotypes aid in assessing prognosis risks, atypical phenotypes require careful selection of genetic testing platforms, and the interpretation of dynamically changing phenotypes necessitates integrating genetic reports of phenotypes. It emphasizes that clinicians should integrate fetal imaging phenotypes, the degree and changes in phenotypes, medical history, and family history to determine optimal genetic counseling.

The core technologies in prenatal diagnosis are fetal ultrasound examination and genetic testing. This article discusses the advantages, advancements, and complementarity of fetal ultrasound and genetic testing. It emphasizes the selection of appropriate prenatal diagnostic techniques based on the characteristics, testing efficacy, and health-economic benefits of different technologies. By maximizing the individual strengths and complementary features of fetal ultrasound and genetic testing, the overall level of prenatal diagnosis can be continuously improved.

Gestational diabetes mellitus (GDM) is a common complication during pregnancy and is significantly associated with adverse perinatal outcomes such as macrosomia, neonatal hypoglycemia, and cesarean delivery. Currently, the universal standard for diagnosing GDM primarily relies on the results of the oral glucose tolerance test conducted between 24 and 28 weeks of gestation. However, recent clinical studies have shown that GDM diagnosed in early pregnancy is also significantly related to adverse pregnancy outcomes, leading many scholars to advocate for the early diagnosis of GDM. Additionally, despite the high incidence of GDM in twin pregnancies, it remains controversial whether the impacts on large-for-gestational-age infants and the long-term development of type Ⅱ diabetes are identical to those in singleton pregnancies. This controversy has prompted a reevaluation of the diagnostic criteria for GDM in twin pregnancies. This article aims to review the latest research on early-onset GDM and GDM in twin pregnancies, analyze existing evidence, and provide clinical diagnostic recommendations and future research directions in the context of China's specific national conditions.

Objective:To analyze the trends of preterm birth among women of advanced maternal age in Haidian District, Beijing from 2013 to 2022.Methods:A retrospective analysis was conducted on the birth registration data in Haidian District, Beijing, from January 2013 to December 2022, focusing on the records of women aged ≥35 who delivered between 22 and 44 weeks of gestation. The Joinpoint regression model was used to analyze the time trends of preterm birth rates among women of advanced maternal age in the Haidian District. Interrupted time series (ITS) analysis was applied to quantitatively evaluate the transient and long-term effects of China's universal two-child policy on the preterm birth rate among women of advanced maternal age.Results:(1) A total of 70 640 birth registration records from 68 587 women were finally included. The number of women giving birth peaked between 2016 and 2018 (8 158, 9 906, and 8 914 cases, respectively). The proportion of permanent residents in Beijing gradually decreased from 53.7% (2 175/4 049) in 2013 to 42.0% (4 160/9 906) in 2017 and then increased to over 98% between 2019 and 2022 [98.8% (7 828/7 925), 99.1% (6 283/6 340), 99.3% (5 970/6 014), and 99.5% (6 371/6 404), respectively]. (2) Among the 68 587 women, 57 339 (83.6%) were delivered at tertiary hospitals, and 35 496 (51.8%) were delivered by cesarean section. The proportion of multiple births increased slowly from 2.4% (236/9 906) in 2017 to 3.5% (225/6 404) in 2022. From 2013 to 2015, primiparous women accounted for the majority. Subsequently, the proportion of multiparous women increased annually, reaching 71.6% (6 385/8 914) in 2018 before gradually decreasing to 56.2% (3 600/6 404) in 2022. (3) A total of 70 640 live births were delivered. The highest number of deliveries was in 2017, with 10 139 cases. From 2013 to 2022, 36 995 male infants and 33 645 female infants were born, with preterm birth rates of 10.6% (3 914/36 995) and 9.4% (3 123/33 645), respectively. (4) Among the 70 640 infants, there were 124 extremely preterm infants (0.2%), 773 very preterm infants (1.1%), and 6 140 late preterm infants (8.7%), accounting for 1.8%, 11.0%, and 87.3% of all preterm infants (7 037 cases), respectively. (5) The optimal fitting results of Joinpoint regression indicated that the preterm birth rate showed a declining trend from 2013 to 2017 ( APC=－4.4%, 95% CI: -13.0% to -0.2%); with 2017 as the turning point, the preterm birth rate exhibited an upward trend from 2017 to 2022 ( APC=4.5%, 95% CI: 1.6% to 13.0%). (6) The results of ITS analysis revealed that the preterm birth rate instantly decreased by 0.79% ( β2=－0.79, P=0.026) in the month when the universal two-child policy took effect. In comparison, it increased by an average of 0.03% per month ( β3=0.07, P=0.001) after the implementation of the policy. After adjusting for the proportion of multiple births, the preterm birth rate significantly decreased before the policy took effect ( β1=－0.06, P=0.003), but increased by an average of 0.01% per month ( β3=0.07, P<0.001) after the policy took effect. There was no statistical significance in the transient impact of the policy on the preterm birth rate in this district ( β2=0.80, P=0.145). Conclusions:From 2013 to 2022, the preterm birth rates among women of advanced maternal age in Haidian District exhibit a "V"-shaped pattern with the implementation of the two-child policy as the turning point. It is necessary to continue strengthening maternal health care for women of advanced maternal age and ensure the targeted provision of related services to address the issue of increased preterm birth rates following the enforcement of the two-child policy.