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.

OBJECTIVE: To assess the value of chromosomal karyotyping analysis and single nucleotide polymorphism-based microarray (SNP-array) for the detection of chromosomal mosaicisms in amniotic fluid samples. METHODS: Seventy four pregnant women with fetal mosaicisms detected by both methods were retrospectively analyzed. RESULTS: Among the 74 mosaicisms, 12 were pseudo and 62 were true mosaicisms, which included 1 Robertsonian translocation, 3 deletions, 4 supernumerary markers, 19 autosomal aneuploidy mosaicisms, 30 sex chromosome aneuploidy mosaicisms and 5 isometric chromosome mosaicisms. CONCLUSION Chromosome karyotyping analysis and SNP-array have their own advantages and limitations for the diagnosis of mosaicisms. When the two methods have yielded inconsistent results, fluorescence in situ hybridization may be used for further verification.
Aneuploidy ; Chromosome Aberrations ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Mosaicism ; Pregnancy ; Prenatal Diagnosis/methods* ; Retrospective Studies ; Sex Chromosome Aberrations

Objective:To explore the characteristics and influencing factors of blood carnitine metabolism in premature infants.Methods:A retrospective analysis of 37 037 neonates with negative results of genetic metabolic disease screening at Guangxi Newborn Disease Screening Center from 2018 to 2021, of which 34 517 normal full-term infants were the control group and 2 520 preterm infants were the research group.According to gestational age, the preterm infants were further divided into three groups: extremely preterm group( n=232), moderately preterm group( n=324)and late preterm group( n=1 964). According to birth weight, they were divided into three groups: very low birth weight group( n=188), low birth weight group( n=1 276)and normal birth weight group( n=1 056). According to blood collection time, they were divided into three groups: 3~7 days group( n=1 990), 8~14 days group( n=342) and 15~28 days group( n=188). Tandem mass spectrometry was used to detect the levels of 31 carnitines in dried blood spots and analyze the differences in the levels of metabolic indicators in each group. Results:Carnitine levels in preterm infants are most affected by gestational age.Adjusting the physiological and pathological conditions of premature infants and other related factors, grouped by gestational age, there were differences in the levels of 31 carnitines among the groups(all P<0.05), the smaller the gestational age, the greater the difference in carnitine levels; grouped by blood collection time, there were statistically significant differences in carnitine levels between preterm infants with different blood collection age groups and full-term 3~7 days groups(all P<0.05), and showing age-related; there are differences among 31 carnitines grouped by body weight(all P<0.05), the smaller the body weight, the greater the difference in carnitine levels.Combined with the analysis of gestational age, birth weight and blood collection date, 17 indicators including C0, C2, C3, C4, C6DC, C10, C10∶1, C12, C12∶1, C14, C14∶1, C14OH, C16, C16∶1, C18, C18∶1 and C18∶1OH are important biomarkers of carnitine metabolism in premature infants. Conclusion:Carnitine in premature newborns has different metabolic differences at different gestational ages, birth weights and blood collection ages, which provides a strong basis for establishing reference standards and interpretation of preterm infants in the laboratory in this region, and provides reasonable and effective early diagnosis and treatment for clinical practice.Meanwhile, it provides an optimized program for timely detection of carnitine deficiency and carnitine supplementation to improve nutrition of premature infants.

Objective:To investigate the efficacy of descending aortic translocation in relieving the compression of trachea or bronchus caused by aortic deformity.Methods:From January 2017 to July 2019, a total of 11 patients with distal trachea or proximal bronchial stenosis caused by aortic deformity were treated with descending aortic translocation. Cardiac CT and fiberoptic bronchoscopy were performed before surgery. The median age was 55(23-540) days, and the body weight was 4(2.1-9.0)kg. Five patients had a special type of vascular ring(left aortic arch with right descending aorta, small aortic window with funnel chest; left aortic arch with right descending aorta and right artery ligament, vagus right subclavian artery, combined with trachea, carina and left and right bronchial stenosis in 1 case; Right aortic arch with left descending aorta, combined with tracheomalacia stenosis in 1 case; Right aortic arch with left descending aorta combined with broad tracheal stenosis and left pulmonary dysplasia in 1 case) compressed tracheal or bronchial tube in 5 cases. Three patients with left main bronchus constriction after traditional arch disconnection surgery. 3 patients with left main bronchus stenosis before coarctation or interrupted aortic arch.Surgical methods: Descending aortic translocation was performed through a midline sternotomy with cardiopulmonary bypass and deep hypothermia.The proximal descending aorta was transected distal to the left subclavian artery, proximal sutures were performed, and the distal brought up though the transverse sinus caudad to the right pulmonary artery and tracheal carina, and anastomosed in end-to-end fashion to the ascending aorta, and simultaneous correction was performed with intracardiac malformations, such as airway plasty was performed at the same time without improvement after compression of tracheal stenosis.Results:There was no death in the whole group. Median cardiopulmonary bypass was 180(136-337)min with an median aortic cross-clamp time of 51(30-84)min; Median absence of perfusion to the descending thoracic aorta 34(21-50)min .Tracheal compression was effectively relieved in 5 patients, and airway plasty was performed simultaneously in 6 patients due to persistent tracheal softening and stenosis. All patients had resolution of symptoms.There was only one case anastomotic stenosis after descending aortic translocation.The mean follow-up was(18.0±9.4)months.Conclusion:Descending aortic translocation can effectively relieve this kind of pressure due to aortic deformity.

Objective:This study defined mid-term results of a policy of single-stage repair of interrupted aortic arch associated cardiac anomalies.Methods:Between October 2012 and June 2019, 38 patients with interrupted aortic arch were evaluated for short- and mid-term results after surgical treatment, the average age of patients was(12±7) days and the mean body weight was(3.3±0.5)kg.29 patients belonged to IAA type A, and 7 patients to type B, and 2 patients belonged to IAA type C, 30 patients were complicated with ventricular septal defect, atrial septal defect, and patent ductus arteriosus, two complicated with bicuspid aortic valve, four complicated with Taussig-Bing malformation and two with double outlet right ventricle, one with truncus arteriosus(A4), one with aortopulmonary window, one with left ventricle outflow tract obstruction. Single-stage repair was performed in all patients with cardiac anomalies.Results:Early mortality was 5.2%(2 cases), one was die for low cardiac output syndrome, the other die of septic shock. Median CPB time was 138 min(90-305 min), and median aortic cross clamping time was 68 min(47-163 min). Hospital day was 25d( 13-52 days).32 patients were followed-up, median time 34 months(9-85months). 2 patients(6.0%) were mild pulmonary stenosis pressure(20-25 mmHg), 3 patients(9.3%) suffer aortic anastomosis mild stnosis(21-44)mmHg.1 patient(3.1%) LVOTO was repaired ten months after the repair of interrupted aortic arch. The left broncus of of one patient was mild stenosis but without dyspnea.Conclusion:Single-stage end -to-side anastomosis repair of interrupted aortic arches in neonatal and repair of associated cardiac anomalies is safe and have low effective with low motality.

Objective:To investigate the status of height and weight of 3-18-year-old children and adolescents in urban China, and to provide a basis for establishing puberty phase specific curves for age-specific height and age-specific weight.Methods:A cross-sectional survey of 218 185 children and adolescents aged 3-18 years in urban China was conducted by using the method of stratified random cluster sampling from January 2017 to December 2019. The sampling areas included 12 provinces municipalities in China and autonomous regions in total. Data were collected on weight, height, waist circumference, hip circumference and secondary sexual characteristics. The generalized additive model for location, scale, and shape (GAMLSS) was employed to establish percentile reference values and growth curves of height and weight for boys and girls aged 3-18 years. Wilcoxon rank sum test was applied to compare the P 50 value of height and weight between children of each Tanner stage and children of the same age ignoring the different puberty phase. Results:The 3rd, 50th, and 97th percentile curves for height and weight for age were developed for boys and girls aged 3-18 years. The 3rd, 50th, and 97th percentile curves for age-specific height and age-specific weight for each puberty phase were developed for boys and girls. Compared with all children ignoring the different puberty phase, boys aged 9 and over and girls aged 7 and over who are at Tanner stage 1 showed shorter height and lighter weight than those of the same age group (all P<0.01), the difference ranges of height at P 50 are -4.0 to -0.6 cm for boys, and -4.4 to 0.5 cm for girls; the difference ranges of weight are -4.8 to 0.4 kg for boys, and -4.0 to -0.3 kg for girls; children at Tanner stage 2 & 3 initially were taller and heavier than those of the same age group; and later grew shorter and lighter than those of the same age group, the two sets of curves cross over; boys aged 16 and under and girl aged under 14 who are at Tanner stage 4 were taller and heavier than those of the same age group (all P<0.01), the difference ranges of height at P 50 are 0.2 to 10.0 cm for boys, and 0.2 to 9.4 cm for girls; the difference ranges of weight at P 50 are 0.7 to 10.9 kg for boys, and 1.0 to 11.2 kg for girls, and the differences showed narrowing trend with age. Conclusion:The puberty phase specific growth curves of age-specific height and age-specific weight for boys and girls aged 3-18 years are established, it is useful for clinical work to evaluate physical development of children at different puberty phases.

Preeclampsia is a common gestational disease, involves multisystem disorder and carries risks for both mother and baby. Low-dose aspirin is the most comprehensive among the prevention candidates. The 2019 ACOG recommends the use of low-dose aspirin after 12 weeks of gestation as prevention if the patient has one or more of high-risk factors. WHO recommends calcium supplementation as one of strategy for prevention of preeclampsia, especially for the pregnant women who are likely to be low serum calcium or low calcium intake. Other medicines, antioxidants or sodium restriction are lack of evidence even present controversy. This paper highlights the latest guidelines, research findings and other new advances in preeclampsia prevention.

Objective: To compare the safety and immunogenicity of two different sequential schedules of inactivated poliomyelitis vaccine made from Sabin strain (sIPV) followed by typeⅠ+Ⅲ bivalent oral poliovirus vaccine (bOPV) in Drug Candy (DC) form or liquid dosage form). Methods: This randomized, blinded, single center, parallel-group controlled trial was done from September 2015 to June 2016 in Liuzhou, Guangxi province. Healthy infants aged ≥2 months were eligible for enrollment and divided into 1sIPV+2bOPV or 2sIPV+1bOPV sequential schedules. According to the bOPV dosage form each sequential schedules, the subjects again were divided into drug candy(DC) form or liquid dosage form group, being 1sIPV+bOPV (DC)/1sIPV+2bOPV(liquid)/2sIPV+1bOPV(DC)/2sIPV+1bOPV(liquid). According to 0, 28, 56 d immunization schedule, Each group were given 3 doses. We recorded adverse events during the clinical trial (399 participants who receive at least one dose). 28 days post-Dose 3, we receive a total of 350 blood samples (excluding the quitters or subjects against trial plan), using cell culture trace against polio virus neutralization test Ⅰ, Ⅱ, Ⅲ neutralizing antibody (GMT), calculating the antibody positive rate.PolioⅠ,Ⅱand Ⅲ antibody titers were assessed by virus-neutralizing antibody assay and the seroconversion (4-fold increase in titer) from pre-Dose 1 to 28 days post-Dose 3 was calculated (total 350 samples) . Results: During the vaccination, the incidence of AEs in 1sIPV+2bOPV(DC), 1sIPV+2bOPV (liquid), 2sIPV+1bOPV(DC), 2sIPV+1bOPV (liquid) group were 79%, 76%, 80% and 74% (χ²=1.23, P=0.747) , respectively. The severe AEs in groups were 6%, 5%, 6% and 4% (χ²=0.57, P=0.903) , respectively, and none was considered to be vaccination related. 28 days after 3^rd vaccination, the seroconversion rates in 1sIPV+2bOPV (DC), 1sIPV+2bOPV (liquid), 2sIPV+1bOPV (DC), 2sIPV+1bOPV (liquid) group, were 99%, 100%, 99% and 99% (χ²=0.94, P=0.815) , respectively, for type Ⅰ poliovirus; and 47%, 57%, 80%, 79% (χ²=31.56, P<0.001) , respectively, for type Ⅱ; and were 100%, 99%, 100%, 99% (χ²=2.02, P=0.568) , respectively, for type Ⅲ. In each group, the GMT of antibody against poliovirus typeⅠ were 4 539.68, 6 243.43, 6 819.53 and 7 916.29 (F=25.87, P<0.001) , respectively; Type Ⅱ were 12.98, 10.54, 63.75 and 84.21 (F=8.68, P=0.034) , respectively; Type Ⅲ were 1 172.55, 1 416.03, 2 648.89 and 3 250.75 (F=14.50, P=0.002) , respectively. Conclusion On the same sequential schedules, there was no significant difference between the dosage forms, all of them showed good safety and immunogenicity. In the same dosage forms with different sequential schedules, the seroconversion rate was higher in 2 dose sIPV group than the 1 dose sIPV group, especially at the neutralizing antibody GMT level against polio type Ⅱ and Ⅲ after vaccination.

Objective To explore the value of echocardiography in evaluation of pulmonary venous in total anomalous pulmonary venous connection (TAPVC).Methods Fifty-five children with TAPVC were enrolled in the study.The data of echocardiography and CT angiography were retrospectively analyzed and compared with intraoperative findings.Results Totally 55 patients with TAPVC were classified into supra-cardiac type (n=24),cardiac type (n=20),infra-cardiac type (n=7) and mixed type (n=4) according to the sites of drainage of pulmonary venous in echocardiography.In 15 patients with obstruction of pulmonary vertical vein,the sites of obstruction in the supra-cardiac type mostly presented between vertical vein and superior vena cava or innominate vein,and the sites of obstruction in the infra-cardiac presented all between vertical vein and hepatic or portal vein.In 4 patients with pulmonary vein stenosis,3 cases with local pulmonary vein stenosis were all cardiac type,which presented between individual pulmonary vein and common confluence or right atrium;1 patient with diffuse pulmonary vein stenosis was infra-cardiac type.In 9 patients of abnormal individual pulmonary vein,8 cases were not detected by echocardiography,but all were detected by CT angiography.Conclusion Echocardiography is able to make more comprehensive evaluation for the pulmonary venous drainage,obstruction,and proximal stenosis of individual pulmonary vein in TAPVC.CT angiography is superior in evaluation of abnormalities of connection and amount of individual pulmonary vein,and imaging of distal pulmonary vein.