Objective:To investigate the predictive value of end-tidal carbon monoxide (ETCO) values within 48 h after birth for neonatal hyperbilirubinemia caused by hemolysis.Methods:This prospective study enrolled neonates considered at high risk for hemolytic disease, who were born in Shenzhen Maternity and Child Healthcare Hospital from August to December 2022. ETCO levels were measured within the first 24 h and again between 24 to 48 h after birth. The neonates were classified as the control group (without hyperbilirubinemia) or as the hyperbilirubinemia group within 10 d post-birth, which was further subdivided into the hemolysis group (hyperbilirubinemia due to hemolysis) and non-hemolysis group (hyperbilirubinemia not due to hemolysis). Analysis of variance, Kruskal-Wallis H test, Chi-square test, and Bonferroni correction were employed for statistical analysis of the participants' baseline data, ETCO measurement timing, and results. The receiver operating characteristic (ROC) curve was utilized to assess the predictive value of ETCO levels at 24 h and 24-48 h post-birth for neonatal hyperbilirubinemia caused by hemolysis. Results:A total of 386 neonates were enrolled, with 44 in the hemolysis group, 21 in the non-hemolysis group, and 321 in the control group. The ETCO levels within 24 h were higher in the hemolysis group compared to the non-hemolysis and control groups [2.7 (2.1-3.3) ppm (1 ppm=10 -6) vs. 1.9 (1.4-2.4) ppm and 1.6 (1.3-1.8) ppm, respectively]; Both the hemolysis and non-hemolysis groups had higher ETCO levels between 24 to 48 h than the control group [2.7 (2.0-3.6) ppm and 2.0 (1.6-2.3) ppm vs. 1.5 (1.3-1.9) ppm, respectively], with all P<0.05. The areas under the ROC curves for predicting hemolysis-induced neonatal hyperbilirubinemia were 0.940 (95% CI: 0.902-0.978) for ETCO levels within 24 h and 0.850 (95% CI: 0.763-0.936) for ETCO levels between 24 to 48 h. When using 2.05 ppm as a cutoff value for ETCO levels within 24 h, the sensitivity was 88.6% and the specificity was 86.0%. When using 1.95 ppm as a cutoff value for ETCO levels between 24 to 48 h, the sensitivity was 81.1% and the specificity was 81.9%. ETCO levels within 24 h and between 24 to 48 h post-birth were positively correlated with the total bilirubin value/age ratio upon admission ( r=0.876 and 0.608, respectively), percentage of reticulocytes ( r=0.860 and 0.702, respectively), and length of hospital stay ( r=0.786 and 0.566, respectively), while negatively correlated with age at admission ( r=-0.413 and -0.478, respectively), hemoglobin levels ( r=-0.408 and -0.427, respectively), and hematocrit levels ( r=-0.341 and -0.377, respectively), with all P<0.05. Conclusion:ETCO values within 48 h post-birth can effectively predict neonatal hyperbilirubinemia caused by hemolysis.
PURPOSE:This study aimed to evaluate the prognostic value of postnatal esophageal deviation index (EDI) measured within the first 24 h of life for predicting mortality and morbidity in neonates with left-sided congenital diaphragmatic hernia (L-CDH). METHOD:This retrospective study analyzed clinical data from 133 neonates with L-CDH admitted to Guangzhou Women and Children's Medical Center between January 2016 and January 2024. Patients were categorized into two groups based on outcomes: survivors (n = 108) and non-survivors (n = 27). Risk factors for mortality were identified using both univariate and multivariate analyses. A receiver operating characteristic (ROC) curve was utilized to evaluate the predictive value of EDI for mortality in L-CDH patients. Subsequently, patients were divided into two groups: those with an EDI> 16.1% and those with an EDI≤16.1%. The relationship between EDI and both mortality and morbidity was analyzed using Kaplan-Meier analysis, chi-square test, Fisher's exact test, and multivariate analysis. RESULTS:EDI (adjusted OR: 0.822, 95% CI 0.723-0.935; P = 0.003) was identified as the independent predictor of mortality through both univariate and multivariate logistic regression analysis. The ROC curve demonstrated that the area under the curve (AUC) for predicting the mortality was 0.854 (95%CI: 0.782-0.930) for EDI, with an optimal cut-off value of 16.125%. The cumulative mortality rate through Day 200 was higher in patients with an EDI>16.1% (P＜0.001). Among the 133 neonates with L-CDH, 24.8% had an EDI>16.1%. This was associated with significantly worse CDH characteristics, including a high incidence of intrathoracic stomach and a high occurrence of high-risk defect sizes (type C/D), (P＜0.001), as well as more severe pulmonary hypertension (P＜0.001). An EDI>16.1% was associated with higher mortality and a greater need for ECMO support compared to an EDI≤16.1% (P＜0.001). CONCLUSION:EDI within the first 24 h of life in patients with L-CDH is associated with increased mortality and the need for ECMO, particularly when EDI exceeds 16.1%. LEVEL OF EVIDENCE:III.
Objective:To analyze the clinical features, prevention, and treatment of diabetic ketoacidosis (DKA) in pregnancy.Methods:Clinical features, treatment, and pregnancy outcomes of ten pregnant patients diagnosed with DKA and treated at Peking University First Hospital from January 2004 to December 2021 were analyzed retrospectively using descriptive statistical analysis.Results:DKA was found in two cases in the first trimester, three in the second trimester, and five in the third trimester, respectively. Six had type 1 diabetes (including two patients with fulminant type 1 diabetes) and four patients had type 2 diabetes. Only two cases received regular pregnancy examinations, and two began prenatal care in the second trimester. The other six cases neither had prenatal examination nor regular examination. Infection, pancreatitis, and preeclampsia occurred in six, two, and one case, respectively, and among them, four had urinary system infection. Laboratory examination showed that the average pH, blood glucose, and glycated hemoglobin A1c (HbA1c) at onset were 7.06±0.16, (23.7±2.6) mmol/L and (9.2±0.8)%. All patients had different degrees of electrolyte disorder and tested positive for urine ketone bodies. After rehydration, glucose-lowering, and correction of electrolyte disorder, the acidosis was relieved, and the ketone bodies turned negative in all patients. There was no maternal death. The fetal loss occurred in five cases, including one with intrauterine fetal death in late pregnancy, one with embryo arrest in early pregnancy, one with unavoidable abortion, and two terminated on maternal request. The remaining three were term labor and two were preterm labor.Conclusions:The leading cause of DKA in pregnancy is poor control of diabetic blood glucose, followed by infection. Once DKA is complicated during pregnancy, the outcome of the mother and her baby is poor. Its occurrence should be actively prevented. For women with fulminant type 1 diabetes, DKA is easier to occur, and the prognosis is poorer, so strict management and follow-up should be warranted.
This article reports a pedigree with two previously deceased neonates. Both neonates did not experience asphyxia but passed away on their 5th and 13th day of life. The chromosomal analysis of the parents' karyotype revealed no abnormalities. Clinical manifestations of the two deceased cases and relevant medical records were recollected. Whole exome sequencing was conducted on the stem blood sample of Neonate 2, revealing a c.729_730insTT homozygous mutation (p.D244Lfs*39) in the methylmalonyl-CoA mutase gene (NM_000255). It was confirmed that Neonate 2 was affected with methylmalonic acidemia. Amniocentesis was performed at 20 +3 weeks in the current pregnancy. Sanger sequencing of amniotic fluid indicated that the fetus carried the same gene mutation as Neonate 2. Consequently, the fetus was expected to be a patient with methylmalonic acidemia and to exhibit the same phenotype as Neonate 2. Termination of pregnancy, therefore, was selected at 24 weeks of gestation.
The incidence and mortality of infectious diseases are high among neonates owing to the immature development of various organ systems, thereby prevention and control are critical. This paper summarizes the epidemiological characteristics, prevention strategies, current problems, and challenges in neonatal infectious diseases and emphasizes the important role of continuous quality improvement in the prevention of neonatal infectious diseases.
为了更好地回顾、总结和研究医学发展，医学界提出了“医学模式”的理念，以探讨人类在观察和处理医学问题时所形成的思想和方法。迄今为止，医学经历了神灵主义医学模式、自然哲学医学模式、机械论医学模式、生物医学模式和生物-心理-社会医学模式的五次演变，极大地丰富了医学的内涵 ［1］。研究医学模式的价值在于能够指导医学理论与实践的发展，其中就包括医患沟通。医患沟通是医学实践重要的组成部分，医务人员可以借此全面地收集患者信息，以做出准确的诊断、提供适当的咨询、给予合理的治疗方案，患者则通过主诉向医务人员描述具体症状和其他相关信息（如既往病史），同时表达治疗诉求和意愿。与此同时，良好的医患沟通亦能促进医患双方建立良好互信的关系，有助于提升患者满意度，保障医疗服务质量，促进医学发展。
This article reports the prenatal diagnosis of 22q11.2 deletion syndrome (22q11.2 DS) in two consecutive pregnancies of a woman. Echocardiography on the first fetus at 24 +4 gestational weeks identified the right aortic arch, and right-sided ductus arteriosus with aberrant left subclavian artery. Subsequently, an amniocentesis was performed, and chromosomal microarray analysis (CMA) of amniotic fluid revealed a 2.181 Mb heterozygous microdeletion of 22q11.21, which indicated the presence of 22q11.2 DS in the fetus. After genetic counseling, the pregnant woman decided to terminate the pregnancy and declined genetic testing. During her second pregnancy, ultrasound at 21 +5 weeks detected interrupted aortic arch type B with aberrant left subclavian artery, ventricular septal defect, and enlarged posterior fossa in the fetus and further CMA of amniotic fluid indicated fetal 22q11.2 DS. CMA was performed on peripheral blood of the woman, which found the same deletion on 22q11.21. The woman had nasal sounds and velopharyngeal insufficiency with normal phenotype. Following the genetic counseling regarding the risk of recurrence, the pregnant woman opted to terminate the pregnancy and was suggested to undergo preimplantation genetic diagnosis in future pregnancies. One year after the second pregnancy termination, the woman's father developed heart failure at the age of 53 and was also found to have nasal sounds. Low-depth whole genome copy number variation sequencing in venous blood confirmed 22q11.2 DS in her father. For those with a prenatal diagnosis of 22q11.2 DS, genetic testing of the fetal parents is recommended to help assess the risk of recurrence and facilitate genetic counseling.
Despite its late start,prenatal screening and diagnosis work in China have been developing rapidly and achieving remarkable results. This article reviews the development of prenatal screening and diagnosis in China from the following aspects: the development of screening technology; the favorable promotion of the progress of prenatal screening by the government legislation and administration; and genetic technology contributes to the improved accessibility and accuracy of prenatal screening and diagnosis.Meanwhile, the existing problems, namely the shortage of professionals in this field and the dilemma faced by clinical consultation, are proposed and future development is prospected.
Objective:To summarize the clinical manifestations, treatment and outcome of neonatal pseudo-Bartter syndrome caused by maternal hyperemesis gravidarum.Methods:This retrospective study collected the clinical data of a set of premature twins with pseudo-Bartter syndrome who were admitted to Hebei Children's Hospital in September 2022. Clinical features of the cases were summarized with descriptive analysis.Results:The twins born with a gestational age of 30 +3 weeks required tracheal intubation and mechanical ventilation due to premature birth and respiratory distress. They were transferred to our hospital 2 h after birth. The mother suffered from hyperemesis gravidarum and even had severe vomiting complicated by hypokalemia 3 d before delivery. The blood gas analysis of the twins at 2 h after birth showed severe metabolic alkalosis, hyponatremia, hypokalemia, hypochloremia and hyperlactatemia. Hyperglycemia appeared at 6 h after birth, and scleredema neonatorum at 24 h after birth. No significant abnormalities were found in the tandem mass spectrometer analysis of blood or urine samples. Whole-exome sequencing showed no abnormalities in the genes related to the phenotype. The twins were diagnosed with neonatal pseudo-Bartter syndrome. After symptomatic and supportive treatment, metabolic alkalosis and electrolyte disorders in the twins were completely resolved 4 d after birth. They were cured and discharged 51 d after birth without recurrence. Follow-up revealed no abnormalities in the physical or neurological development of the twins at 11 months after birth. Conclusions:Maternal hyperemesis gravidarum can lead to neonatal pseudo-Bartter syndrome, characterized by severe metabolic disorders as well as respiratory and circulatory dysfunction at the early stage after birth. Timely diagnosis and treatment are conducive to good prognosis in the affected neonates.
Fetal growth restriction (FGR) is the second major risk factor for perinatal mortality and can lead to some short- and long-term complications in the offspring. Current knowledge on FGR faces many confusion and challenges that need to be addressed. This paper reviews the research status and progress as well as the confusion and thinking of FGR from the following aspects: the formation and evolution of the concept of FGR, the etiology and pathogenesis, animal model, prevention and intervention, early screening and diagnosis of FGR.
胎盘植入性疾病（placenta accreta spectrum disorders，PAS）患者保守治疗术后再妊娠及分娩结局一直备受关注，但缺乏多中心大样本的前瞻性队列研究。2023年11月， American Journal of Obstetrics and Gynecology在线刊出一篇系统综述和meta分析，评估了PAS保守治疗后的再妊娠结局 ［1］，现简要报道如下。
With the development of perinatal medicine in China for more than 30 years, great progress has been made in the fight against infectious diseases associated with pregnancy, including better knowledge, improved clinical treatment, and more effective preventive measures. This article reviews and prospects the prevention and treatment of infectious diseases in pregnancy in China from the four aspects: mother-to-child transmission of acquired immune deficiency syndrome, syphilis, and hepatitis B; toxoplasma, others, rubella virus, cytomegalovirus, and herpes simplex virus infection; influenza and novel coronavirus infection; and sepsis.
This paper reports a case of neonatal lupus syndrome manifested by metabolic disease. A male neonate was admitted to the Children's Hospital of Soochow University due to poor response and vomiting for 1 day. Based on the clinical symptoms, including the patterned skin and a full anterior fontanelle, and a result of leukocytosis, neonatal sepsis was considered. Lysinuric protein intolerance was not excluded from the genetic metabolic disorders screening. The patient was positive for lupus-related autoantibodies and antinuclear antibodies, which were also found in his mother and elder sister. He had no functional variant of the SCL7A7 gene, a gene related to lysinuric protein intolerance, thereby the diagnosis of neonatal lupus syndrome manifested by metabolic disorders was confirmed. After treatment with methylprednisolone, the patient recovered well with no specific change in blood genetic metabolism at re-examination. Monthly follow-up after discharge found decreased antibody titers.
The high incidence of preterm birth is one of the great challenges for the survival, especially for the high-quality survival, of offspring. This paper reviews and prospects the prevalence of premature birth in China, the definition of the lower limit of the gestational week of premature birth, the high-risk factors and the prophylaxis. It is suggested that relevant research should be carried out actively, such as specific high-risk factors of premature birth, screening for shortened cervical length, vaginal progesterone, and oral aspirin to prevent premature birth, etc. It also appeals to all the perinatal medical workers to make joint efforts for the improvement of the survival rate of premature infants and reduction of the major disability rate in China.
November 2023 marks the 110th anniversary of the birth of Yan Renying, the "Mother of Chinese Perinatal Health Care". The year 2023 was also the 35th anniversary of the founding of the Society of Perinatal Medicine of the Chinese Medical Association, and the 25th anniversary of the founding of the Chinese Journal of Perinatal Medicine.This article summarizes the development of perinatal medicine in China and the academic work and achievements of this journal from two aspects: the management of hyperglycemia in pregnancy for promoting the health of the whole life cycle of the mother and infant and the early identification and comprehensive management of placenta accreta spectrum disorders. It is proposed that in the future, the journal should pay more attention to the articles regarding the priority of prophylaxis and perinatal management on the long-term health of mothers and infants, aiming to promote the prevention of adult diseases from early life.
A goal of reducing the maternal mortality to less than 12/100 000 by 2030 is proposed in China. In order to achieve this goal, the need to promote the development of obstetric critical care medicine becomes evident. This article reviews the development history of Chinese obstetric critical care medicine, highlights the necessity and urgency of establishing treatment centers for critical pregnant women and obstetric intensive care units, and puts forward some thoughts for moving the field forward, including attaching the importance to the individualized treatment of obstetric critical patients and development of obstetric intensive care units.
With the efforts of Professor Yan Renying, the "Mother of Chinese Perinatal Health Care", the Society of Perinatal Medicine of Chinese Medical Association was established on April 24,1988. In order to reduce the mortality and disability rate associated with neonatal asphyxia, many efforts have been initiated to promote the "Neonatal Resuscitation Program in China" by the Society of Perinatal Medicine in 2004. This article summarizes the implementation strategy, projects, and achievements of the program, and makes prospects for the future.
Perinatal medicine plays a crucial role in the rescue and treatment of newborns. Perinatal medicine emerged in the 1970s and was introduced to China in the 1980s, which had a profound influence on the development of neonatal critical care medicine in our country. On the occasion of the 110th anniversary of Professor Yan Renying's birth, the 35th anniversary of the establishment of the Society of Perinatal Medicine of the Chinese Medical Association, this article provides an overview of the history and major achievements in neonatal critical care medicine in China and offers a glimpse into the future.
Objective:To analyze the genetic features of homologous Robertsonian translocation trisomy 21.Methods:This retrospective analysis involved 12 pedigrees in which singleton fetuses were prenatally diagnosed with homologous Robertsonian translocation trisomy 21 [46,XX/XY,+21,der(21;21)(q10;q10)] at the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region from January 2012 to January 2023. Moreover, karyotype analysis results of the parental peripheral blood were obtained. The prenatal diagnosis results and genetic features in the 12 pedigrees were summarized using descriptive statistical analysis.Results:Among the 12 pedigrees, eight cases were de novo and the other four were maternally inherited. Three mothers in the four inherited cases had homologous Robertsonian translocation trisomy 21 and the other one was a homologous Robertsonian translocation carrier. The karyotypes of the four fathers were all normal. There were three families with multiple children, two of the couples with normal karyotypes had normal children, and the other couple had a child with homologous Robertsonian translocation trisomy 21 that was inherited from the mother with the same type of trisomy 21. Non-invasive prenatal testing was performed in two pedigrees during this pregnancy and the results showed that one case was at low risk and one was at high risk of trisomy 21. Further testing of the placenta after labor induction confirmed the low-risk case with low proportion of mosaic trisomy 21 (the proportion was 21% on the maternal side of the placenta and 9% on the fetal side). Conclusions:Most cases of homologous Robertsonian translocation trisomy 21 are de nove and few are inherited. Parents of probands with homologous Robertsonian translocation trisomy 21 should be routinely advised to undergo peripheral blood chromosome examination to find out whether they are carriers of homologous Robertsonian translocation.
As an independent subspecialty, fetal medicine started late in China but is developing vigorously. In the process of rapid development of new techniques in fetal medicine, it is inevitable to encounter many confusions, obstacles, and setbacks. This article reviews the development history of fetal medicine in China, focuses on the difficulties and challenges to address, and discusses the ideas and countermeasures for the discipline construction in the new era.
