Journal of Clinical Pediatrics

Noninvasive prenatal testing: moving into the next decade

WANG Yanlin

Journal of Clinical Pediatrics. 2024, 42(1): 15-19. doi:10.12372/jcp.2024.23e1192

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Noninvasive prenatal testing (NIPT) was one of the most inspiring breakthroughs in prenatal diagnosis over the last ten years, leading the technology advancements in perinatal medicine. Through the analysis of maternal peripheral blood cffDNA by low-coverage whole-genome sequencing, NIPT has realized the efficient prenatal screening of Down syndrome, and it can be extended to screen other genomic disorders such as aneuploidies and copy number variations, realizing the early non-invasive diagnosis of fetal diseases. Despite the outstanding outcomes, NIPT still needs more evidence-based medical support to expand its clinical application in the future. This article explores the current challenges and future development trends of NIPT from the perspectives of identifying indications, analyzing abnormal results, ethical issues in reporting and interpreting results, the role of NIPT in fetal Mendelian disorder screening, and the development of non cffDNA based NIPT technology.

The status quo, problems and reflections of fetal endoscopic therapy in China

YIN Shaowei

Journal of Clinical Pediatrics. 2024, 42(1): 20-23. doi:10.12372/jcp.2024.23e1042

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Fetoscopy therapy is one of the signature techniques of fetal medicine. After rapid promotion and development, fetoscopy technology has to some extent become the industry symbol of fetal medicine, the measurement index of fetal medicine center level and the certification label of fetal medicine doctors in China. However, the rapid development has also brought many problems and troubles. Nowadays, the feasibility of large-scale deployment of fetoscopy and the effective use of existing fetoscopy still need to be actively explored. The construction of fetoscopy team and the use of fetoscopy technology still lack normative and authoritative standards. Fetoscopy technology and fetal medicine urgently need to be better understood by the medical community and society. In addition, how to carry out the scientific research on fetoscopy and its related techniques is also an important topic worth exploring.

Fetal intervention of severe congenital diaphragm hernia: Chinese practice

CHEN Gongli, QI Hongbo

Journal of Clinical Pediatrics. 2024, 42(1): 24-27. doi:10.12372/jcp.2024.23e0877

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Fetal diaphragmatic hernia, a birth defect, significantly contributes to neonatal mortality. Despite advancements in neonatal care, anesthesia and surgery, the mortality rate associated with severe cases continues to be alarmingly high, posing persistent challenges in therapy. The innovative technique of fetoscopic tracheal occlusion represents a novel therapeutic approach for severe diaphragmatic hernia. This paper details our experiences with this method, aiming to offer valuable insights to fetal medical centers in China.

Study on the correlation between the changes in hemoglobin level during pregnancy and perinatal outcomes of twins

MA Jue, XUE Ruihong, XIE Jinliang, WANG Yanlin

Journal of Clinical Pediatrics. 2024, 42(1): 28-34. doi:10.12372/jcp.2024.23e0956

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Objective To study the correlation between maternal hemoglobin level during pregnancy and perinatal outcome of twins. Methods The clinical data of pregnant women with twin pregnancies who underwent prenatal examination and delivery from May 2015 to November 2022 were retrospectively analyzed. Results A total of 2524 women with twin pregnancies were included. The mean hemoglobin (Hb) in early pregnancy was (118.0±10.9) g/L, higher than that in late pregnancy, (116.6±13.0) g/L, and the difference was statistically significant (P<0.01). The incidence of iron deficiency anemia was 22.1% in early pregnancy and 27.7% in late pregnancy. High Hb (Hb>130g/L) might be associated with an increased risk of neonatal asphyxia (AOR=2.10, 95%CI: 1.13-3.87) and small for gestational age infants (AOR=1.39, 95%CI: 1.09-1.98). Moderate to severe anemia during early pregnancy might increase the risk of small for gestational age infants (AOR=2.61, 95%CI: 1.52-4.49). Mild anemia in early pregnancy did not increase the risk of perinatal adverse outcomes. If mild anemia in early pregnancy was corrected in late pregnancy, the risk of neonatal asphyxia (AOR=0.27, 95%CI: 0.07-0.97) might be reduced compared with those with persistent anemia, and the birth weight of larger fetuses in twins is higher (P<0.05). Conclusions Compared with those with persistent anemia in twin pregnancies, the risk of neonatal asphyxia was reduced in those whose anemia was corrected in late pregnancy. Therefore, the necessity of iron supplementation and Hb monitoring for anemic pregnant women with twin pregnancies should be emphasized.

Fetal cardiac intervention for critical congenital heart disease of fetus: a report of 5 cases

CAI Leiyi, ZHAO Liqing, WANG Lei, JIAO Xianting, ZHANG Yongjun, WU Yurong, ZHU Hong, XIA Hongping, SUN Kun, CHEN Sun

Journal of Clinical Pediatrics. 2024, 42(1): 35-39. doi:10.12372/jcp.2024.22e1355

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Objective To explore the feasibility and short-term efficacy of fetal cardiac intervention (FCI) for critical congenital heart disease. Methods The clinical data of all the fetuses who underwent FCI in the intrauterine diagnosis and treatment center from August 2018 to May 2022 were included, including basic information from perinatal to postnatal, FCI surgical information, fetal echocardiogram information, etc., and the fetuses were followed up until 3 months after birth to analyze the feasibility, effectiveness and safety of FCI technology. Results Seven fetuses were included, 5 of whom underwent FCI surgery with a 100% success rate (5/5), including 2 cases of critical aortic stenosis (CAS) and 3 cases of pulmonary atresia with intact ventricular septum (PA/IVS). The median gestational age at the time of FCI surgery was 29⁺²(28⁺⁶-32⁺⁴) weeks. The echocardiographic indexes of 5 fetuses after FCI were significantly improved. All five fetuses were full-term, with a median gestational age of 39⁺²(38-39⁺⁴) weeks. After birth, aortic valvuloplasty was performed in 2 patients with CAS and percutaneous balloon dilatation of pulmonary valve was performed in 3 patients with PA/IVS. One case of CAS with cardiac insufficiency died in the neonatal period, and the other 4 cases had good prognosis during follow-up. Conclusion FCI is a safe and effective technique that is expected to improve the prognosis of critical congenital heart disease.

Effect of amnioreduction on maternal polyhydramnios and neonatal death

NI Jiaying, ZHENG Tao, WANG Lei, XIE Wenjuan, ZHU Hong

Journal of Clinical Pediatrics. 2024, 42(1): 40-45. doi:10.12372/jcp.2024.22e1261

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Objective To analyze the effect of amnioreduction on maternal polyhydramnios induced by fetal gastrointestinal atresia and its influence on neonatal death. Methods The clinical data of pregnant women with polyhydramnios induced by fetal gastrointestinal atresia and the data of their newborns from May 2018 to May 2021 were retrospectively analyzed. According to the treatment methods, the pregnant women were divided into conventional treatment group, diuretic use group and amnioreduction group. The perinatal complications, delivery mode and pregnancy outcome of the three groups were compared, and the influencing factors of neonatal death were analyzed. Results A total of 126 pregnant women with polyhydramnios induced by fetal gastrointestinal atresia were included. There were 65 pregnant women in the conventional treatment group, the average age was (31.0±4.9) years old, and the gestational week of the first treatment was 23-34⁺⁶ weeks. In the diuretic use group, the mean age of 31 pregnant women was (29.3±5.2) years old, and the gestational week of the first treatment was 25-34⁺⁴ weeks. There were 30 pregnant women in the amnioreduction group, the average age was (31.0±5.3) years old, and the gestational week of the first treatment was 26-34⁺⁶ weeks. There were statistically significant differences in the proportion of premature birth and neonatal death among different treatment groups (P<0.05). The preterm birth rate and neonatal death rate were lower in the amnioreduction group. Compared with the survival group, the proportion of cesarean section and amnioreduction was lower, the rate of premature birth was higher in the death group, and the difference was statistically significant (P<0.05). Binary logistic regression analysis showed that premature delivery and conventional treatment without amnioreduction were independent risk factors for neonatal death (P<0.05). Conclusions Amniotic fluid reduction can prolong the gestational weeks of pregnant women with polyhydramnios induced by fetal gastrointestinal atresia, reduce the rate of premature birth and improve the prognosis of newborns.

Prenatal diagnosis, genetic counseling and follow-up of fetuses with isodicentric Y chromosomes

GUO Caiqin, ZHAO Li, XIAO Jianping, YANG Lan, TANG Ye, LIU Jun, ZHAO Xin

Journal of Clinical Pediatrics. 2024, 42(1): 46-52. doi:10.12372/jcp.2024.23e0380

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Objective To analyze prenatal diagnosis, genetic counseling and follow-up of five fetuses with isodicentric Y chromosomes and to provide reference for the clinical treatment. Methods From January 2018 to August 2022, 7 347 pregnant women with prenatal diagnostic indications were selected, and fetal amniotic fluid was detected by conventional G-banding karyotype and chromosomal microarray analysis (CMA) simultaneously, and then verified by fluorescence in situ hybridization (FISH). Subsequently, parental karyotypes were analyzed. After genetic counseling, pregnant outcomes were followed up. Results Five fetuses with de novo idic(Y) were detected and all of these Y chromosomes had the same breakpoint in Yq11.2. Among them, four fetuses (cases 2~5) presented with a mosaic 45, X karyotype except the fetus of case 1. Prenatal ultrasonography indicated that all five fetuses were male and no obvious structural abnormalities were found in the other four fetuses except for case 1 with possible bilateral clubfeet. After personalized genetic counseling combined with the ultrasonography results, cases 1~2 chose to continue the pregnancy while cases 3~5 terminated the pregnancy. The child of case 1 was followed up to four years old. The surgical effect of strephenopodia was good, and the mild developmental retardation was improved after rehabilitation training. The child of case 2 was followed up to 2 years old, and no abnormal phenotype was found yet. Case 3 had been pregnant again and had given birth to a healthy baby girl while cases 4 and 5 were still in preparation for pregnancy. Conclusions The combined application of cellular and molecular genetic techniques is helpful for the prenatal diagnosis of the fetuses with idic(Y). Reasonable genetic counseling and long-term follow-up can provide an important reference for subsequent clinical diagnosis and treatment.

Analysis of risk factors for early death of acute promyelocytic leukemia in children

YAO Qianghua, WANG Yingchao, WANG Dao, LIU Yufeng

Journal of Clinical Pediatrics. 2024, 42(1): 53-57. doi:10.12372/jcp.2024.22e0649

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Objective To analyze the clinical characteristics of early death in newly diagnosed children with acute promyelocytic leukemia (APL), and to explore the direct causes of death and the risk factors leading to early death. Methods The clinical data of newly diagnosed APL children admitted from January 2013 to December 2020 were retrospectively analyzed. Results A total of 103 children with APL (56 boys and 47 girls) were included. The median age of onset was 9.0 (7.0-13.0) years old. There were 24, 41 and 38 children in low, medium and high risk groups, respectively. Early death occurred in 13 children. Compared with the survival group, the early death group had higher proportions of initial white blood cell count (WBC) ≥100×10⁹/L, prothrombin time (PT) ≥3 s, D-dimer ≥9mg/L, bone marrow promyelocytes percentage ≥90%, and high risk, and the differences were statistically significant (P<0.05). Among the 13 children who died early, 10 were boys and 3 were girls. The median time from diagnosis to death was 4.0 (2.0-7.0) days. All the 13 children died of hemorrhage, including 13 cases of intracranial hemorrhage and 5 cases of intracranial hemorrhage combined with pulmonary hemorrhage. Multivariate logistic regression analysis showed that WBC≥10×10⁹/L at first diagnosis (OR=17.27, SE=1.12, 95%CI: 1.92-155.04) was an independent risk factor for early death. Conclusions The early case fatality rate of children with APL is high, and WBC≥10×10⁹/L at first diagnosis is an important predictor of early death in children with APL.

Characteristics of neurofilament light chain levels in cerebrospinal fluid of Guillain-Barre syndrome in children

JIN Mei, LIU Jing, LIU Kang, ZHAO Libo, ZHAO Ziwei, SUN Suzhen

Journal of Clinical Pediatrics. 2024, 42(1): 58-62. doi:10.12372/jcp.2024.22e1062

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Objective To evaluate the value of cerebrospinal fluid neurofilament light chain (CSF-NfL) levels in early diagnosis and prognosis of children with Guillain-Barre syndrome (GBS). Methods The clinical data of children with GBS admitted from November 2020 to May 2022 were retrospectively analyzed, and the children diagnosed with migraine and psychological disorders during the same period were selected as the control group. The level of CSF-NfL was compared between the two groups, and the correlation between the level of CSF-NfL and clinical characteristics was analyzed. Results There were 26 children (14 boys and 12 girls) in the GBS group, with a median age of 5.0 (3.8-8.0) years. The control group consisted of 48 children (30 boys and 18 girls) with a median age of 8.0 (5.0-9.0) years. At admission, the levels of CSF-NfL and CSF protein in the GBS group were higher than those in the control group, and the difference was statistically significant (P<0.05). The sensitivity, specificity, positive predictive value, negative predictive value and accuracy of CSF-NfL combined with CSF protein levels in the early diagnosis of GBS were 92.3%, 95.8%, 92.3%, 95.8% and 94.6%, respectively. The CSF protein level at admission and Hughes functional score at the peak of disease were significantly positively correlated with CSF-NfL level in children with GBS (P<0.05). The CSF-NfL levels of GBS patients with poor prognosis were significantly higher than those of patients with good prognosis, and the difference was statistically significant (P<0.05). Conclusions The CSF-NfL levels were associated with CSF protein levels, disease severity and short-term prognosis, which may be helpful for the early diagnosis and prognosis evaluation of GBS.

Analysis of eradication effect and influencing factors of triple therapy of Helicobacter pylori in children

GENG Tian, YU Zhongsu, ZHOU Xixi, LIU Bo, ZHANG Huihua, LI Zhongyue

Journal of Clinical Pediatrics. 2024, 42(1): 63-69. doi:10.12372/jcp.2024.22e0590

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Objective To explore the eradication effect and influencing factors of triple therapy of Helicobacter pylori (H.pylori) in children from Chongqing. Methods Gastric mucosa samples were collected from 156 children with suspected H.pylori infection who visited the gastroenterology clinic. H.pylori culture, drug susceptibility test and gene detection were performed. Children diagnosed with H.pylori infection received triple therapy eradication. The eradication rate of triple therapy was calculated and the influencing factors of efficacy were analyzed. Results Among 156 children with suspected H.pylori infection, 138 met the diagnostic criteria for H.pylori infection. Among them, 109 children (53 boys and 56 girls) were treated with standard triple therapy (omeprazole + amoxicillin + clarithromycin) for 14 days, with an average age of (9.6±3.0) years, and 64 (58.7%) were successfully eradicated from H.pylori infection. The eradication rate of clarithromycin sensitive strain was 81.6% (40/49), which was significantly higher than that of drug-resistant strain (34.8%, 16/46), the difference was statistically significant (P<0.01). Of the 95 children, 87 underwent genetic testing. The eradication rate of clarithromycin sensitive strains was 76.2% (32/42), which was significantly higher than that of drug-resistant strains (42.2%, 19/45), and the difference was statistically significant (P<0.01). Gender, age, endoscopic diagnosis, histopathological appearance of mucosal tissue based on severity of inflammation, CYP2C19 gene polymorphism, vacA and cagA virulence genes were not correlated with the eradication rate of standard triple regimen (P>0.05). Conclusions Standard triple therapy is not suitable for the eradication of H.pylori in children in Chongqing area, and individualized treatment based on drug sensitivity test is a better choice.

Analysis of correlation between Turner syndrome karyotype and autoimmune thyroid disease

ZHAO Fangyuan, CHEN Yonghua, WANG Kana, WANG Chunlin

Journal of Clinical Pediatrics. 2024, 42(1): 70-74. doi:10.12372/jcp.2024.23e0235

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Objective To investigate the relationship between different chromosome karyotypes and the incidence of autoimmune thyroid disease (AITD) and thyroid function in children with Turner syndrome (TS). Methods A total of 93 children with TS diagnosed by chromosome karyotype since 2013 were analyzed. The detailed distribution of AITD and abnormal thyroid function in each group of chromosome karyotypes and the correlation between them were analyzed. Results Of the 93 children with TS, 21 (22.6%) had AITD at initial diagnosis, of whom 17 had normal thyroid function, 1 had subclinical hypothyroidism, 1 had clinical hypothyroidism, and 2 had hyperthyroidism. In addition, 21 children with AITD were regularly reviewed at a median interval of 3 years to evaluate the change of thyroid function status over time. Among them, 10 patients had normal thyroid function, 4 had subclinical hypothyroidism, 3 had clinical hypothyroidism, and 4 had hyperthyroidism. The AITD group was divided into 3 subgroups according to karyotype (8 cases of 45, X chromosome monomer in subgroup A1, 1 case of chimeric type in subgroup A2 and 12 cases of X chromosome structural abnormality in subgroup A3). At the end of follow-up, the incidence of thyroid dysfunction in each group increased significantly over time. Conclusions Thyroid function deteriorates progressively over time in children with Turner syndrome. The older the age at first diagnosis of AITD, the higher the incidence of thyroid deterioration. Patients with Turner syndrome need regular monitoring of thyroid function and prompt treatment.

Successful rescue of progression from Fanconi anemia to acute myeloid leukemia by allogeneic hematopoietic stem cell transplantation with decitabine maintenance: a case report

DAI Yinliang, HE Hailong, FAN Liyan, LI Jie, LU Jun, XIAO Peifang, LING Jing, ZHENG Jiajia, DU Zhizhuo, HU Shaoyan

Journal of Clinical Pediatrics. 2024, 42(1): 75-79. doi:10.12372/jcp.2024.22e1673

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Objective To investigate the feasibility and effectiveness of sequential decitabine after allogeneic hematopoietic stem cell transplantation (allo-HSCT) in the treatment of children with Fanconi anemia (FA) progressing to acute myeloid leukemia (AML). Methods The clinical data of an 8-year-old girl with progression from FA to AML who received haploid transplantation (younger brother as donor) followed by decitabine maintenance therapy were retrospectively analyzed. Results The child presented with anemia at 6 years old and Fanconi anemia was diagnosed at 8 years old. The child was treated with cyclosporine and testosterone undecanoate for 6 years without response, presenting with progressive trilineage decline and ineffective platelet transfusions, and finally was diagnosed with AML by bone marrow examination. The results of bone marrow NGS test showed c.3348+1G>A homozygous variation in FANCA gene. The patient was treated with FLAG (fludarabine+cytarabine+granulocyte colony-stimulating factor) chemotherapy followed by a myeloablative preconditioning regimen based on whole body irradiation. Granulocyte and platelet were engrafted 15 days after transplantation. After transplantation, the child was given a reduced dose of cyclosporine and she maintained grade Ⅱ skin graft-versus-host disease until 1 year after transplantation. From 6 months after transplantation, decitabine was administered every 2 months for a total of 6 times, and the expression level of WT1 was monitored. It has now been nearly 6 years since the transplantation, and the child is in event-free survival. Conclusions The allo-HSCT combined with decitabine sequential therapy is effective in the treatment of AML progression from FA.

Research progress on lipid chain length and atopic dermatitis

XIA Xin, YAO Zhirong

Journal of Clinical Pediatrics. 2024, 42(1): 80-84. doi:10.12372/jcp.2024.23e0567

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Atopic dermatitis (AD) is a chronic and recurrent inflammatory skin disease. There is growing evidence that skin barrier dysfunction is an important cause of AD. The lipid matrix in the outermost layer of the skin, namely the stratum corneum (SC), is essential for the skin barrier function. A large number of studies have shown that the decrease of SC lipid content, the shortening of chain length, the change of ceramide (CER) subclass levels and inflammatory responses all affect the skin barrier function of AD patients. This article reviews the relationship between the SC lipid chain length and the skin barrier function in AD patients.

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