Objective:To analyze the clinical features and prognosis of acute B lymphoblastic leukemia (B-ALL) children carrying a TCF3: : PBX1 fusion gene and to evaluate the prognostic value of this gene.Methods:Retrospective cohort study.A total of 2 164 B-ALL children aged 0-18 years diagnosed and treated at 19 pediatric centers from October 2016 to June 2022 were enrolled.They were divided into the positive group and the negative group according to whether they carried a TCF3: : PBX1 fusion gene.The clinical characteristics, treatment response, adverse reactions, and prognosis of the 2 groups of patients were analyzed.The rank sum and Kruskal-Wallis tests were used to compare two and more than two groups of numerical variables, respectively.Fisher′s exact test was used to compare categorical variables.Results:Among the 2 164 patients, 116 (5.4%) were TCF3: : PBX1 positive, of which 70 patients were female, accounting for 60.3%.There were 840 female patients in the TCF3: : PBX1-negative group, accounting for 41.0%.There was a significant difference in the ratio of females between the TCF3: : PBX1-positive and TCF3: : PBX1-negative groups ( P<0.001).No significant difference was observed in age of onset between the two groups( P>0.05).The proportion of bone marrow naive cells [54.00 (14.00, 76.50)% vs.29.00 (3.00, 68.00)%], white blood cell counts [25.30 (10.46, 60.94)×10 9/L vs.9.03 (4.38, 30.73)×10 9/L] and hemoglobin counts [82.00(63.00, 101.00) g/L vs.74.00(60.00, 90.00) g/L] in the TCF3: : PBX1-positive group were significantly higher than those in the negative group at the onset (all P<0.05).In terms of treatment response, the proportion of peripheral blood naive cells on Day 8 in the TCF3: : PBX1-positive group was significantly higher than that in the negative group [2.00 (0, 9.00)% vs.0 (0, 2.00)%, P<0.001].The proportion of minimal residual disease <0.1% on Day 15 in the TCF3: : PBX1-positive group was significantly higher than that in the negative group ( P=0.038).There were no significant differences in cumulative recurrence rate, treatment-related mortality (TRM), and overall survival (OS) between the TCF3: : PBX1-positive group and TCF3: : PBX1-negative group (all P>0.05).The cumulative recurrence risk of TCF3: : PBX1-positive patients was 9.646 times higher than that of ETV6: : RUNX1-positive patients with better prognosis( HR=9.646, 95% CI: 1.026-90.700, P=0.047).There were no significant differences in TRM and OS between TCF3: : PBX1-positive and ETV6: : RUNX1-positive patients (all P>0.05).A significant enrichment of PAX5 mutations was detected in TCF3: : PBX1-positive patients.Among the 7 high-risk TCF3: : PBX1-positive patients in a single center, 4 patients had PAX5 mutations, and this proportion was significantly higher than that in other patients ( P<0.001). Conclusions:B-ALL children carrying a TCF3: : PBX1 fusion gene have a high remission rate and good long-term prognosis after intensive chemotherapy.It is suggesting that TCF3: : PBX1-positive B-ALL patients should be rated at intermediate risk to receive intensive chemotherapy.

Objective:To analyze the clinical features and prognosis of acute B lymphoblastic leukemia (B-ALL) children carrying a TCF3: : PBX1 fusion gene and to evaluate the prognostic value of this gene.Methods:Retrospective cohort study.A total of 2 164 B-ALL children aged 0-18 years diagnosed and treated at 19 pediatric centers from October 2016 to June 2022 were enrolled.They were divided into the positive group and the negative group according to whether they carried a TCF3: : PBX1 fusion gene.The clinical characteristics, treatment response, adverse reactions, and prognosis of the 2 groups of patients were analyzed.The rank sum and Kruskal-Wallis tests were used to compare two and more than two groups of numerical variables, respectively.Fisher′s exact test was used to compare categorical variables.Results:Among the 2 164 patients, 116 (5.4%) were TCF3: : PBX1 positive, of which 70 patients were female, accounting for 60.3%.There were 840 female patients in the TCF3: : PBX1-negative group, accounting for 41.0%.There was a significant difference in the ratio of females between the TCF3: : PBX1-positive and TCF3: : PBX1-negative groups ( P<0.001).No significant difference was observed in age of onset between the two groups( P>0.05).The proportion of bone marrow naive cells [54.00 (14.00, 76.50)% vs.29.00 (3.00, 68.00)%], white blood cell counts [25.30 (10.46, 60.94)×10 9/L vs.9.03 (4.38, 30.73)×10 9/L] and hemoglobin counts [82.00(63.00, 101.00) g/L vs.74.00(60.00, 90.00) g/L] in the TCF3: : PBX1-positive group were significantly higher than those in the negative group at the onset (all P<0.05).In terms of treatment response, the proportion of peripheral blood naive cells on Day 8 in the TCF3: : PBX1-positive group was significantly higher than that in the negative group [2.00 (0, 9.00)% vs.0 (0, 2.00)%, P<0.001].The proportion of minimal residual disease <0.1% on Day 15 in the TCF3: : PBX1-positive group was significantly higher than that in the negative group ( P=0.038).There were no significant differences in cumulative recurrence rate, treatment-related mortality (TRM), and overall survival (OS) between the TCF3: : PBX1-positive group and TCF3: : PBX1-negative group (all P>0.05).The cumulative recurrence risk of TCF3: : PBX1-positive patients was 9.646 times higher than that of ETV6: : RUNX1-positive patients with better prognosis( HR=9.646, 95% CI: 1.026-90.700, P=0.047).There were no significant differences in TRM and OS between TCF3: : PBX1-positive and ETV6: : RUNX1-positive patients (all P>0.05).A significant enrichment of PAX5 mutations was detected in TCF3: : PBX1-positive patients.Among the 7 high-risk TCF3: : PBX1-positive patients in a single center, 4 patients had PAX5 mutations, and this proportion was significantly higher than that in other patients ( P<0.001). Conclusions:B-ALL children carrying a TCF3: : PBX1 fusion gene have a high remission rate and good long-term prognosis after intensive chemotherapy.It is suggesting that TCF3: : PBX1-positive B-ALL patients should be rated at intermediate risk to receive intensive chemotherapy.

Objective:To investigate the feasibility of predicting the risk of spontaneous preterm birth in singleton pregnancy women with low risk of preterm birth by transabdominal-transvaginal ultrasound cervical length sequential screening in the second trimester.Methods:This prospective longitudinal cohort study included singleton pregnant women at 11-13 +6 gestational weeks who were admitted to Nanjing Drum Tower Hospital from January 2023 to September 2023. Transabdominal and transvaginal cervical lengths were measured during the mid-trimester fetal ultrasound scan at 18-24 weeks, and pregnancy outcomes were obtained after delivery. A short cervix was defined as a transvaginal cervical length of ≤25 mm, and the outcomes were defined as spontaneous preterm birth occurs between 20 and 36 +6 weeks and extremely preterm birth before 32 weeks. The area under the receiver operating characteristic (ROC) curve was used to evaluate the effectiveness of predicting spontaneous preterm birth by transabdominal and transvaginal cervix length, as well as the effectiveness of predicting short cervix by transabdominal cervical length. The relationship between transabdominal and transvaginal cervical length was evaluated using a scatter plot. Results:A total of 562 cases were included in this study, comprising 33 cases of spontaneous preterm birth (7 cases occurring before 32 weeks) and 529 cases of term birth. (1) Compared to the term birth group, transabdominal cervical length (median: 37.6 vs 33.2 mm; Z=-3.838, P<0.001) and transvaginal cervical length (median: 34.0 vs 29.9 mm, Z=-3.030, P=0.002) in the spontaneous preterm birth group were significantly shorter. (2) The areas under the ROC curve for predicting spontaneous preterm birth by transabdominal and transvaginal cervical length were 0.699 (95% CI: 0.588-0.809) and 0.657 (95% CI: 0.540-0.774), respectively. The sensitivity, specificity and positive predictive value of transvaginal cervical length Conclusions:In singleton pregnancy women with low risk of preterm birth, transabdominal-transvaginal cervical length sequential screening can reduce unnecessary transvaginal ultrasounds by approximately 41% without missing the diagnosis of pregnant women with a short cervix. This method also enhances the effectiveness of transvaginal cervical length to spontaneous preterm birth.

Objective:To investigate the clinical characteristics of cases with different congenital pulmonary airway malformations (CPAM) volume ratios (CVR) and the effect of maternal glucocorticoid treatment during pregnancy on CPAM.Methods:A retrospective study was conducted on 56 singleton pregnant women with fetal CPAM diagnosed prenatally in the Department of Obstetrics and Gynecology at Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University, from September 2020 to May 2023. Among these, three cases received maternal glucocorticoid treatment during pregnancy and clinical conditions were reported in detail. Statistical analyses were performed using independent sample t-tests, non-parametric tests, Chi-square tests, or Fisher's exact test. Results:(1) General information: The average age of the 56 pregnant women with CPAM fetuses was (32.0±0.7) years. All fetuses had unilateral lesions, with 25 cases (44.6%) on the left side. Types Ⅰ, Ⅱ, and Ⅲ CPAM accounted for 5.4% (3/56), 50.0% (28/56), and 44.6% (25/56), respectively. Fetal hydrops occurred in two cases, and the maximum CVR during the fetal period for the other 54 non-hydropic fetuses was 0.79±0.66. (2) The CVR threshold for the risk of fetal hydrops was set as the mean maximum CVR of non-hydropic CPAM fetuses plus 2 standard deviations (0.79+2×0.66=2.1). The subjects were divided into two groups based on the maximum CVR during the fetal period: CVR≤2.0 group ( n=50) and CVR>2.0 group ( n=6). Comparison between the CVR>2.0 group and CVR≤2.0 group: The CVR>2.0 group had significantly higher rates of fetal hydrops [2/6 vs. 0.0% (0/50), Fisher's exact test], mediastinal shift [5/6 vs. 32.0% (16/50), χ 2=4.03], polyhydramnios [6/6 vs. 4.0% (2/50), Fisher's exact test], and postnatal surgery [4/5 vs. 22.2% (10/45), continuity correction χ 2=4.86] (all P<0.05). None of the fetuses with CVR≤2.0 had hydrops or received intrauterine intervention. The overall live birth rate was 89.3% (50/56). (3) Maternal glucocorticoid treatment during pregnancy: three of six fetuses with CVR>2.0 were treated with maternal glucocorticoid during pregnancy, and all were delivered alive at term after the intervention with resolution of edema and/or reduction in mass size. Two of them were treated with postnatal thoracoscopic surgery and were followed up to 5 and 14 months of age, respectively, with no abnormalities in feeding and development; the other was not treated surgically until 3 months of age, with no respiratory-related symptoms and no abnormalities in feeding and development. Conclusions:Prenatal ultrasound indicating CVR>2.0 is associated with increased rates of fetal hydrops, mediastinal shift, and polyhydramnios. Maternal glucocorticoid treatment during pregnancy may lead to favorable pregnancy outcomes for these CPAM fetuses.

Objective:To investigate the effectiveness and prognosis of using improved domestic neonatal ureteral stents (referred to as improved double-J stents) for thoraco-amniotic shunting (TAS) in treating fetal chylothorax.Methods:A retrospective analysis was conducted on the clinical data of 21 cases of fetal chylothorax treated with TAS using improved double-J stents at Nanjing Drum Tower Hospital, Nanjing University Medical School from April 1, 2018, to September 30, 2023. Surgical complications and perinatal outcomes were summarized, and the development of surviving infants in five domains (communication, gross motor, fine motor, problem-solving, and personal-social) was assessed using the Ages and Stages Questionnaires-Third Edition (ASQ-3). Descriptive statistical analysis was used. Results:(1) The median gestational age at prenatal diagnosis was 28.7 weeks (27.3-30.4 weeks), with 85.7% (18/21) of cases complicated by fetal hydrops, 90.5% (19/21) by polyhydramnios, and 85.7% (18/21) by bilateral pleural effusion. (2) The median gestational age at the first TAS was 30.9 weeks (29.7-32.7 weeks). Of the 21 cases, 10 required repeat stent placement due to dislodgement or blockage, with a total of 49 stent placements. The dislodgement rate within 7 days was 24.5% (12/49), and the blockage rate was 16.3% (8/49). The rate of premature rupture of membranes within one week post-stent placement was 9.5% (2/21), with an overall preterm premature rupture of membranes rate of 28.6% (6/21). The median interval from the first TAS to delivery was 30.0 d (19.8-40.0 d). Of the 21 cases, three opted for selective termination of pregnancy; the remaining 18 cases resulted in live births, with a median gestational age at delivery of 35.6 weeks (34.1-37.1 weeks), and three neonatal deaths. The overall neonatal survival rate was 15/18. Surviving infants were followed up to a median age of 30 months (7-48 months), with 13 showing normal development and two scoring below the ASQ-3 threshold.Conclusion:The improved double-J stent can be used for TAS in the treatment of fetal chylothorax, with generally favorable outcomes.

The lower limit of preterm birth varies around the world. In China, the lower limit of preterm infants is set at the gestational age of 28 +0-36 +6 weeks or birth weight ≥1 000 g. Extremely preterm infants are defined as neonates born before 28 weeks of gestation by the World Health Organization. With the development of perinatal medicine and the achievements in neonatal care, the survival rate and the short/long-term outcomes of extreme preterm infants have been greatly improved in China. This article reviews the survival rate, mortality/severe disability rate and medical costs of extremely preterm infants, aiming to provide reference for setting the right lower limit of gestational age for preterm births.

Objective:To explore the clinical significance of cervical length (CL) measured by transabdominal ultrasound during fetal structural anomalies screeing at 20-24 +6 weeks of gestation. Methods:This was a retrospective nested case-control study based on a prospective longitudinal cohort of "Prediction and Prevention of Early-onset Preeclampsia", which recruited 4 995 singleton pregnant women at the gestational age of 11-13 +6 weeks in Nanjing Drum Tower Hospital from April 2019 to August 2022. All the subjects underwent second-trimester ultrasound screening for fetal structural anomalies in our hospital with image records. This study excluded the women who were lost to follow-up, underwent cervical cerclage, terminated the pregnancy due to personal or social factors, or had miscarriage before 20 weeks of gestation, and those with iatrogenic preterm births, intrauterine fetal death or no second-trimester cervical sonography images. Propensity score matching was used to match pregnant women with spontaneous preterm birth ( n=101) and those with full-term delivery ( n=101) in a 1∶1 ratio, with factors of maternal age, body mass index, preterm birth history, cesarean section history, and pregnancy interval ≥5 years. CL was measured based on the retained ultrasound images. Nonparametric test or Chi-square test were used for statistical analysis. Receiver operating characteristic (ROC) curve was used to evaluate the correlation between CL measured by transabdominal ultrasound in the second trimester and spontaneous preterm birth. Results:The CL measured by transabdominal ultrasound at 20-24 +6 weeks of gestation was significantly shorter in the spontaneous preterm birth group than that in the full-term group [2.8 cm (2.5-3.3 cm) vs. 3.4 cm (3.0-3.9 cm), Z=－5.85, P<0.001]. If CL<3.4 cm was used as the cut-off value for predicting spontaneous preterm birth (20-36 +6 weeks), the specificity and the sensitivity were 0.50 and 0.77, respectively, and the sensitivity reached 0.92 for predicting preterm birth before 32 weeks and 1.00 for predicting preterm birth before 28 weeks. If CL<3.7 cm was used as the cut-off value, the specificity and the sensitivity were 0.36 and 0.87, respectively, and the sensitivity was 1.00 for predicting preterm birth before 32 weeks. The efficacy of preterm birth screening at 28-36 +6 weeks of gestation was comparable to that at 20-36 +6 weeks, if CL<3.4 cm and CL<3.7 cm were used as the cut-off value, the sensitivity were 0.76 and 0.86, respectively. Conclusion:Transabdominal ultrasound measurement of CL in the second trimester can be a preliminary screening to determine whether further transvaginal ultrasound measurement of CL is needed for women without a history of preterm birth or late spontaneous abortion.

In the last few years, the introduction of cell-free DNA has rapidly altered prenatal screening regimens and is increasingly offered as the second- or, at times, even the first-tier screening test. Should an early anomaly scan also be part of an up-to-date screening policy? This paper reappraises the value of fetal first-trimester ultrasonography. The primary aims of the first-trimester scan are to establish gestational age based on the measurement of fetal crown-rump length, to detect multiple pregnancy and chorionicity, and to measure fetal nuchal translucency thickness as part of a combined screening test for chromosomal abnormalities. With recent advancements in ultrasound technology, there is compelling evidence that a majority of fetuses with major structural abnormalities and almost half of them without chromosomal abnormalities can be detected in the first trimester. We focused on the first-trimester screening of fetal major defects, especially including fetal congenital heart disease and cleft lip and palate by ultrasound markers and views. Moreover, it is critical to highlight that after a detailed anomaly scan in the first trimester without major structural anomalies and positive genetic tests, the residual chance of favorable outcome in fetuses with isolated increased nuchal translucency is relatively high. The discussion on the role of cell-free DNA in prenatal screening is still ongoing. Even in the event of it becoming a first-line screening test for aneuploidies, the importance of a first-trimester fetal scan, including assessment of markers for other anomalies, remains undisputed.

In the last few years, the introduction of cell-free DNA has rapidly altered prenatal screening regimens and is increasingly offered as the second- or, at times, even the first-tier screening test. Should an early anomaly scan also be part of an up-to-date screening policy? This paper reappraises the value of fetal first-trimester ultrasonography. The primary aims of the first-trimester scan are to establish gestational age based on the measurement of fetal crown-rump length, to detect multiple pregnancy and chorionicity, and to measure fetal nuchal translucency thickness as part of a combined screening test for chromosomal abnormalities. With recent advancements in ultrasound technology, there is compelling evidence that a majority of fetuses with major structural abnormalities and almost half of them without chromosomal abnormalities can be detected in the first trimester. We focused on the first-trimester screening of fetal major defects, especially including fetal congenital heart disease and cleft lip and palate by ultrasound markers and views. Moreover, it is critical to highlight that after a detailed anomaly scan in the first trimester without major structural anomalies and positive genetic tests, the residual chance of favorable outcome in fetuses with isolated increased nuchal translucency is relatively high. The discussion on the role of cell-free DNA in prenatal screening is still ongoing. Even in the event of it becoming a first-line screening test for aneuploidies, the importance of a first-trimester fetal scan, including assessment of markers for other anomalies, remains undisputed.

Objective:To explore the early identification, diagnosis and pathogenesis of childhood acute lymphoblastic leukemia (ALL) complicated with cytokine release syndrome(CRS).Methods:The clinical data of childhood ALL complicated with CRS admitted to Shenzhen Children's Hospital in February 2021 were retrospectively analyzed. The relevant literature was reviewed.Results:The little girl was 2 months and 11 days of age and was diagnosed with ALL with MLL rearrangement positive by bone marrow aspiration because of abdominal mass and abnormal hemogram. She had recurrent high fever with pulmonary imaging characteristic changes during the early intensive induction chemotherapy, accompanied by the elevated interlukin (IL)-2, IL-6, IL-10 and interferon (IFN)-γ. Finally, she was diagnosed with ALL complicated with CRS. Glucocorticoid therapy showed a good efficacy and her clinical symptoms improved.Conclusions:ALL complicated with CRS is essentially induced by cytarabine syndrome drugs in the chemotherapy. The main clinical manifestations include recurrent high fever accompanied by the elevated IL-2, IL-6, IL-10 and IFN-γ. The symptomatic and supportive therapy is usually based on glucocorticoids. Early identification and diagnosis can reduce adverse drug reactions and improve the life quality of children.