Objective:To investigate the value of ultrasonography in diagnosis of transposition of great arteries of the fetus at 11-13 + 6 weeks gestation. Methods:A prospective study was conducted on fetuses screened by ultrasound in the first trimester in Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region between January 2015 and March 2022. Fetal heart structure was screened by three-section screening method. Fetuses with suspected transposition of the great arteries at 11-13 + 6 weeks gestation underwent followed-up ultrasound examination, chromosome and gene test results. The ultrasound characteristics and prognosis pregnancy outcomes were summarized. Results:Twenty-one cases of transposition of the great arteries were detected by ultrasonography, including complete transposition of great arteries (20 cases) and congenitaly corrected transposition of the great arteries (1 case). Two cases were miss diagnosed. Twenty-one cases showed parallel signs of two major arteries on grayscale outflow section at 11-13 + 6 weeks gestation. There were 6 cases with aneuploid ultrasonographic soft markers abnormality, 2 cases with extracardiac malformation. Chromosome and microarray analysis were performed in 13 cases. 4 cases with chromosomal abnormality. Four cases of chromosomal abnormalities were associated with ultrasonographic soft markers abnormality, and 1 case with extracardiac malformation.In the 23 cases, 20 cases were induced, 1 miscarried, and 2 delivered to term. Among the fetuses delivered at term, 1 case died before neonatal operation and 1 case survived. Conclusions:Standardized ultrasound scan at 11-13 + 6 weeks has high accuracy in diagnosis of transposition of the great arteries. And the incidence of chromosomal abnormality is high with ultrasonographic soft markers abnormality or extracardiac malformation.

Objective To study the clinical and genetic characteristics of congenital hyperinsulinism (CHI).Method From November 2016 to November 2018,a cohort of 21 patients with CHI were retrospectively reviewed in our hospital.The second generation sequencing was performed on Ion torrent platform to identify the genetic etiology of this disease.Result The average birth weight was 3 748 g.Overall,11 of the 21 patients (52.4％) were large for gestational age (＞ Pg0),and 90.5％ (19/21) onset within 3 days after birth.Seizures occurred in 7 cases (33.3％).Diazine was effective in alleviation in 6 patients,octreotide was effective in 8 patients,and diazine and octreotide were ineffective in 7 patients.11 patients underwent 18-fluoro-l-dopa PET-CT scan,indicating focal islet cell proliferation in 8 patients and diffuse islet cell proliferation in 3 patients.8 focal cases accepted the partial pancreatectomy (7 cases who failed to respond to drug therapy,1 case who received octreotide had significant liver damage),and all of these 8 cases were confirmed with focal islet cell proliferation by postoperative pathology.7 cases had normal glucose level after surgery,while 1 case developed insulin-dependent diabetes.Patients of 3 cases with diffuse islet cell proliferation had no consent for surgery.Gene mutations were identified in 61.9％ (13/21) of patients (12 cases of ABCC8 gene and 1 case of KCNJ11 gene).15 sequence changes were identified (14 in ABCC8 and 1 in KCNJ11).3 new ABCC8 gene mutations (exon13:c.1822C ＞ T,p.Q608X;exon22:c.2691delC,p.W898Gfs*5;exon33:c.4039C ＞T,p.Q1347X),and 1 new KCNJJ11 gene mutation (exon1:c.629T ＞ A,p.H315Y) were firstly reported.Conclusion Partial pancreatectomy is an effective treatment for those CHI not responsive to drug,however,with an attendant risk of developing diabetes.Mutations of ABCC8 gene and KCNJJ11 gene are the main pathogenic genes of CHI.Patients with different gene mutations may have different responses to drug treatment.Therefore,it is necessary to improve gene testing in clinical practice to guide treatment and prognosis.3 new ABCC8 gene mutations and 1 new KCNJJ11 gene mutation were first reported,which expand the spectra of gene mutation.

Objective To explore the physical development and immune function of infants without human immunodeficiency virus(HIV)infection who were delivered by HIV_infected mothers. Methods Two hundred and ninety_seven infants delivered HIV_infected mothers in Guangxi province from January 2008 to November 2011 were selected as observation group. According to whether infants had HIV infection or not,the children were further divided into the HIV_infection group and the infants in the non_HIV infection group according to the presence or absence of HIV infection,and the infants in the non_HIV infection group were divided into the antiretroviral drug(ART)treatment group and the non_ART treatment group according to whether the mother had used ART during pregnancy. Ninety_one healthy children born at the same time were selected as the healthy control group. The physical examination,T lympho_cyte subgroup analysis and humoral immunity test were performed on all infants. Results The weight and body length at birth of infants born from HIV_infected mothers were all significantly lower than those in the healthy control group [(2. 86 ± 0. 49)kg vs.(3. 15 ± 0. 52)kg;(47. 05 ± 2. 20)cm vs.(50. 01 ± 2. 58)cm],and the differences were sta_tistically significant(t﹦2. 652,2. 247,all P〈0. 05). The CD8 level and CD4∕CD8 ratio of infants delivered by HIV_infected mothers had no significant differences statistically compared with those in the healthy control group[(21. 31 ± 6. 49)% vs.(22. 01 ± 5. 43)%;1. 82 ± 0. 79 vs. 1. 82 ± 0. 67,t﹦0. 933,0. 033,all P〉0. 05];the CD3 and CD4 levels were lower than those in the healthy control group[(62. 36 ± 7. 94)% vs.(65. 70 ± 6. 32)%;(4. 83 ± 7. 62)% vs.(37. 02 ± 5. 69)%],and the differences were statistically significant(t﹦3. 66,2. 946,all P〈0. 01). The immunoglobulin(Ig)M,IgG and IgA levels of children born to HIV_infected mothers had no statistically significant differences compared with those in the healthy control group[(1. 79 ± 0. 66)g∕L vs.(1. 76 ± 0. 66)g∕L;(8. 96 ± 2. 74)g∕L vs.(8. 80 ± 1. 97)g∕L;(0. 85 ± 0. 57)g∕L vs.(0. 86 ± 0. 41)g∕L,t﹦0. 341,0. 619,0. 173,all P〉0. 05). The weight and body length at birth of non_HIV infected children born from HIV_infected mothers were all significantly lower than those in healthy control group[(2. 92 ± 0. 43)kg vs.(3. 15 ± 0. 52)kg;(49. 03 ± 2. 22)cm vs.(50. 01 ± 2. 58)cm],and the differences were statistically significant( F﹦4. 163,2. 87,all P〈0. 05). The birth weight,birth length and head circumference of the ART group were all significant lower than those in the healthy control group[(2. 90 ± 0. 43)kg vs.(3. 15 ± 0. 52)kg;(48. 27 ± 1. 89)cm vs.(50. 01 ± 2. 58)cm;(31. 80 ± 1. 47)cm vs. (34. 88 ± 3. 21)cm],and the differences were statistically significant( F﹦3. 711,2. 970,3. 689,all P〈0. 05). The CD8 level and CD4∕CD8 ratio of non _ HIV infected children born to HIV _ infected mothers had no significant differences statistically compared with those in the healthy control group[(20. 77 ± 5. 60)% vs.(22. 01 ± 5. 43)%, 1. 85 ± 0. 76 vs. 1. 82 ± 0. 67,F﹦43. 568,11. 705,all P〉0. 05];the CD3 and CD4 levels were lower than those in the healthy control group[(62. 27 ± 7. 94)% vs.(65. 70 ± 6. 32)%;(35. 30 ± 6. 86)% vs.(37. 02 ± 5. 69)%],and the differences were statistically significant(F﹦7. 083,28. 06,all P〈0. 05). Conclusions The humoral immune func_tion of the non_HIV infected infants delivered by HIV_infected mothers is not significantly affected,but the physical development at birth and cellular immune function are significantly affected. ART during pregnancy is not a major factor in the limitation of physical development at birth. Therefore,the nutrition support for the infants delivered by HIV_in_fected mothers and prevention of infection are especially necessary clinically.

Objective To explore the clinical characteristics and genetic mutation types of the Mediterranean anemia in Guangxi region in the early neonatal period.Methods The observation group was the children who hospitalized in the Maternal and Child Health Hospital of Guangxi Zhuang Autonomons Region during the period of January 2013 and November 2015,and diagnosed Mediterranean anemia were 85 cases.And 85 newborns that were in the hospital at the same time were selected as the control group.The matching condition between the observation group and the control group was the gestational age.We retrospectively analyzed the general situation (birth weight and gender) and the treatment procedure (the characteristic of blood routine examinations;the day-old of the onset of anemia;the endurance of jaundice;assisted ventilation;the time of oxygen therapy;the dayold of enteral feeding;the blood transfusion times) of the two groups.And the gene was detected in the observation group.Results The observation group's days of life [(13.00 ± 3.79) d] of the oral feeding were higher than that [(9.33 ± 1.95) d] of the control group's (t =2.730,P ＜ 0.05);the observation group's frequency [(3.0 ± 1.0) times] of the blood transfusion was higher than that [(1.0 ± 0.2) times] of the control group's (t =4.268,P ＜ 0.05).The observation group's days of life [(4 ± 1) d] of anaemic onset was shorter than that [(8 ± 2) d] of the control group's (t =-3.258,P ＜ 0.05).The mean corpuscular volume [(80 ± 12) fl] in the blood routine of the observation group was smaller than that [(91 ± 28) fl] of the control group (t =6.712,P ＜ 0.05).In the observation group,the mother's age of pregnancy was (29.19 ± 0.91) years,the birth weight of the newborns was (2.356 ± 0.748) kg,the service time of the ventilator was (7.11 ± 5.07) h,the time of continue positive airway pressure was (27.40 ± 15.17) h,the time of the oxygen provision was (84.98 ± 30.65) h,the time of duration of the jaundice last was (10 ± 3) d;and in the control group,the mother's age of pregnancy was (27.9i ± 0.88) years,the birth weight of the newborns was (2.507 ± 0.783) kg,the service time of the ventilator was (6.21 ± 2.55) h,the time of continue positive airway pressure was (9.64 ± 4.89) h,the time of the oxygen provision was(63.07 ± 21.87) h,the time of duration of the jaundice last was (15 ± 2) d.The parameters showed above were not statistically different between the two groups (all P ＞ 0.05).In 85 cases the detection of α-thalassemia in 60 cases,24 patients with β-thalassemia,1 cases of α-thalassemia combined with β-thalassemia.The logistic regression analysis showed that the age of the oral feeding completely (OR =0.233,95％ CI =0.081-0.673) and the times of blood transfusion (OR =6.621,95％ CI =2.777-15.784) were the independence factors of the Mediterranean anemia.Conclusion The early clinical performance of Mediterranean anemia is lack of specificity,and we must improve genetic testing and regulate blood transfusion as soon as possible to the one who has anemia and other clinical manifestations within a week immediately following birth or who is suspected of Mediterranean anemia patients by the blood routine examination.

Objective To evaluate the levels of total serum bilirubin(TSB),amplitude integrated electroencephalogram(aEEG) monitoring and brainstem auditory evoked potential(BAEP) individually and in combination for the early diagnosis of neonatal acute bilirubin encephalopathy by receiver operating charac-teristic( ROC) curve. Methods Clinical data was retrospectively analyzed. A total of 152 infants were diag-nosed with hyperbilirubinemia,including 119 cases of non-bilirubin encephalopathy group and 33 cases of bil-irubin encephalopathy group. The detection results of peak serum bilirubin,aEEG,BAEP combined with the three methods were determined with ROC curve analysis. Results The areas under ROC curve of TSB lev-el,aEEG,BAEP and in combination were 0. 900,0. 738,0. 767,0. 925,respectively,the corresponding sensi-tivity(specificity) in the cut-off point were 90. 91%(78. 15%),87. 88%(59. 66%),65. 52%(87. 91%), 93. 10%(82. 42%),respectively. It showed that the area under ROC curve of the maximum,the comprehen-sive assessment in diagnostic sensitivity and specificity of the combination of three methods were better than any single detection method by ROC curve. Conclusion The methods of TSB level,aEEG and BAEP play an important role in the diagnosis of neonatal bilirubin encephalopathy,and combination with the three meth-ods can improve the accuracy of diagnosis.

Objective To investigate the diagnostic correlation and sensitivity of amplitude integrated electroencephalogram (aEEG),brainstem auditory evoked potential (BAEP) and cranial magnetic resonance imaging (MRI) for acute bilirubin encephalopathy (ABE) in the newborn.Method Term and near-term neonates (gestational age ≥ 35 weeks) with hyperbilirubinemia (the level of bilirubin over than 95th percentile) of high and intermediate risk group admitted in the neonatal ward of Guangxi Maternal and Child Health Care Hospital from Jan 2014 to Dec 2015 were recruited retrospectively.The infants were assigned to ABE group and non-ABE group according to the diagnostic criteria of ABE.The clinical data of the newborns were collected and the diagnostic correlation between clinical diagnosis and aEEG,BAEP and cranial MRI were analyzed.The receiver operating characteristic (ROC) curve was adopted to assess the diagnostic efficiency of the peak level of serum bilirubin,aEEG,BAEP and cranial MRI on the early diagnosis of ABE.Result A total of 152 newborns with hyperbilirubinemia were recruited,including 33 cases in the ABE group and 119 cases in non-ABE group.(1) The results of aEEG and MRI were marginally positively correlated with clinical diagnosis of ABE (aEEG:r =0.487,P ＜ 0.001;MRI:r =0.220,P=0.018),while the results of BAEP were closely related to the clinical diagnosis of ABE (r =0.593,P ＜ 0.001);(2) The results of BAEP and MRI on the diagnosis of ABE were positively correlated with those of aEEG (BAEP:r =0.424,P ＜ 0.001;MRI:r =0.307,P ＜ 0.001).(3) The area under the ROC curves for predicting the onset of ABE were 0.899 for the peak level of serum bilirubin,0.767 for BAEP,0.738 for aEEG and 0.590 for MRI.Conclusion There was the correlation on the diagnosis of ABE among the methods of aEEG,BAEP and MRI.The combined diagnosis of the three methods could play a complementary role.The aEEG contributed to the early diagnosis of ABE with high sensitivity.

Objective: To investigate the incidence and pathogen distribution of ventilator-associated pneumonia (VAP) among preterm infants admitted to level Ⅲ neonatal intensive care units (NICU) in China. Method: A prospective study was conducted in 25 level Ⅲ NICU, enrolling all preterm infants <34 weeks gestational age admitted to the participating NICU within the first 7 days of life from May 2015 to April 2016. Chi-square test, t test and Mann-Whitney U test were used for statistical analysis. Result: A total of 7 918 patients were enrolled, within whom 4 623(58.4%) were males. The birth weight was (1 639±415) g and the gestational age was (31.4±2.0) weeks; 4 654(58.8%) infants required non-invasive mechanical ventilation and 2 154(27.2%) required intubation. Of all the mechanically ventilated patients, VAP occurred in 95 patients. The overall VAP rate was 7.0 episodes per 1 000 ventilator days, varying from 0 to 34.4 episodes per 1 000 ventilator days in different centers. The incidence of VAP was 9.6 and 6.0 per 1 000 ventilator days in children′s hospitals and maternity-infant hospitals respectively, without significant differences (t=1.002, P=0.327). Gram-negative bacilli (76 strains, 91.6%) were the primary VAP microorganisms, mainly Acinetobacter baumannii (24 strains, 28.9%), Klebsiella pneumonia (23 strains, 27.7%), and Pseudomonas aeruginosa (10 strains, 12.0%). Conclusion The incidence of VAP in China is similar to that in developed counties, with substantial variability in different NICU settings. More efforts are needed to monitor and evaluate the preventable factors associated with VAP and conduct interventions that could effectively reduce the occurrence of VAP.

Objective To study the clinical characteristics and imaging features of perinatal autosomal recessive polycystic kidney disease ( ARPKD) and a systematic review of the literature was performed to improve awareness of the disease. Methods A newborn with infantile ARPKD admitted to the neonatal department of our hospital was studied and her clinical data and imaging features retrospectively reviewed. CNKI, CBMdisc, MEDLINE and Embase databases were searched using autosomal recessive, perinatal and polycystic kidney as keywords. 9 case reports were retrieved from 2005 to 2015 and a total of 9 patients were analyzed. Results The gestational age of patients with infantile ARPKD was from 33 to 37 weeks. 6 of them were diagnosed using prenatal ultrasound and one patient was diagnosed using genetic sequencing. One of 10 infants had a family history, 4 patientsˊ mothers had abnormal pregnancy history (spontaneous abortion or miscarriage) and 7 (70. 0%) patients with respiratory failure needed mechanical ventilation. The ultrasound of all the patients showed enlarged and hyperechogenic kidneys. 9 patients died, and only one patient was alive after renal transplant. Conclusions The characteristics of perinatal APRKD are enlarged and polycystic kidneys, hepatic cysts and liver fibrosis. Infants with this disease have poor outcomes and high mortality rate. Respiratory failure and renal failure are the main causes of death in the neonatal period and early diagnosis and treatment are necessary.

Objective To study the clinical characteristics and risk factors of cow's milk protein allergy(CMPA)in infants less than 3 months old in Guangxi District.Methods From July 1 ,2012,to December 30,2014,infants less than 3 months old suspected of CMPA visiting the pediatric outpatient depart-ment of Maternal and Children Hospital of Guangxi Zhuang Autonomous Region were recruited,which included initial diagnosis and being transported from peripheral hospitals.Observation scale was formulated, attending physician screened patients and their senior made a definite diagnosis.All the infants underwent diagnostic algorithms and were followed up constantly.Results A total of 137 cases were divided into aller-gy group(n =51 )and control group(n =86).Two groups shared some common symptoms such as diarrhea, constipation,bloody stool,stomachache,gastroesophageal reflux(GER),indigestion,anorexia,feeding diffi-culties.Between the allergy group and control group the parameters such as feeding patterns (including breast feeding,mix feeding,formula feeding),improper deeding of food supplement,long-term use of antibiotics in neonatal period and parental atopy showed no significant differences(P ﹥0.05).The parameters in neonatal period including GER [20 cases (39.2%)vs.7 cases (8.1 %)],intake of cow's milk formula [51 cases (100%)vs.71 cases (82.6%)],feeding intolerance (including GER)[17 cases (33.3%)vs.1 1 cases (12.8%)],gut infection[8 cases(15.7%)vs.4 cases(4.7%)],transfusion of blood or/and bloody prod-ucts[12 cases(23.5%)vs.1 1 cases(12.8%)]showed statistically significant differences between the aller-gy group and control group(χ2 =19.538,P =0.000;χ2 =9.989,P =0.002;χ2 =8.308,P =0.004;χ2 =4.691 ,P =0.030;χ2 =5.198,P =0.023 ).Conclusion Symptoms of CMPA in infants no more than 3 months old involve mainly digestive system such as diarrhea,bloody stool,GER.Intake of cow milk formula in neonatal period play an important role in triggering CMPA.

Objective To establish biological reference intervals of neonatal T lymphocyte subsets and IgG, IgA,IgMlevels in 24 -hour newborns in Guangxi.Methods Maternal history and neonatal clinical data were evalua-ted and recorded.Venous blood samplings were collected within 24 hours of birth and were sent for testing in half an hour.The neonates were divided into the early -preterm,the late -preterm and the term neonates group,1 1 0 cases for each group.The parturients were divided into Dexamethasone treatment group and without Dexamethasone treatment group.Data in neonates and the parturients and the sex were analyzed by SPSS 1 7.0 software and the biological refe-rence values were calculated.Results The two -sided reference intervals of 95% in the early -preterm group,the late -preterm group and the term neonates group were as follows:CD3 +:52.07 -88.92 g/L,58.1 6 -90.42 g/L, 56.1 5 -95.67 g/L;CD4 +:25.20 -59.26 g/L,31 .27 -72.91 g/L,28.44 -82.66 g/L;CD8 +:7.30 -36.26 g/L, 9.1 3 -38.49 g/L,1 1 .09 -48.99 g/L;CD4 +/CD8 +:0.34 -4.58,0.34 -4.58,0.32 -3.80;CD1 9 +:3.95 -27.59 g/L,4.04 -30.94 g/L,4.08 -38.70 g/L;NK cell:1 .34 -6.64 g/L,2.88 -8.92 g/L,3.07 -9.35 g/L;IgA:0.000 4 -0.039 6 g/L,0.000 0 -0.069 0 g/L,0.000 0 -0.069 0 g/L;IgM:0.001 6 -0.1 58 4 g/L,0.020 0 -0.1 40 0 g/L,0.020 0 -0.420 0 g/L;IgG:3.22 -1 0.98 g/L,1 .1 0 -1 4.62 g/L,5.00 -1 3.66 g/L.Moreover the ca-ses with Dexamethasone treatment were as follows:the late -preterm infants CD8 + 1 0.35 -40.33 g/L,NK 3.1 0 -9.46 g/L,term NK 6.60 -9.50 g/L;those in without Dexamethasone treatment:the late -preterm infants CD8 +8.42 -34.96 g/L,NK 2.94 -7.80 g/L,term NK 2.98 -8.94 g/L;according to gender,the males in the late -pre-term infants CD8 + 8.26 -35.66 g/L,term CD3 + 51 .90 -92.94 g/L;females in the late -preterm infants CD8 +1 1 .08 -40.68 g/L,term CD3 + 61 .1 0 -96.1 4 g/L.Conclusions Testing values of neonatal T lymphocyte subsets and IgG,IgA,IgM levels in 24 -hour newborns in Guangxi disperse largely and show some differences among the early -preterm neonates,the late -preterm neonates and the term neonates,and maternal Dexamethasone treatment during pregnancy and gender play a role in neonatal immunity.