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Neonatal pulse oximetry screening improves detecting of critical congenital heart disease

Chinese Medical Journal 2013年第14期126卷 2736-2740页

作者： MA Xiao-jing HUANG Guo-ying Pediatric heart Center Children's Hospital of Fudan University Shanghai 201102 China

Objective Life-threatening critical congenital heart disease （cCHD） is often not detected in the neonatal period. Unrecognized cCHD results in high morbidity and mortality rates. As a non-invasive, convenient, quick and accurate measuring method, pulse oximetry is considered to be a promising strategy to screen for cCHD in neonates. This article is a review on the neonatal pulse oximetry screening for cCHD. Data sources Articles on neonatal pulse oximetry screening for cCHD were accessed from PubMed, using keywords including congenital heart defects, neonatal screening and oximetry. Study selection Original articles and critical reviews selected were relevant to the review＇s theme. Results The factors in the course of implementation, including threshold for positive pulse-oximetry screening results, the pulse oximeters used, timing of the screening, and the measuring position, influence the accuracy of the screening. It is recommended that the screening is completed on the second day of life, before hospital discharge. Motion-tolerant pulse oximeters, which can also be applied to measure the saturation in Iow-perfusion conditions, should be used. The probe should be put on both the right hand and on one foot. Thresholds of 〈95% in either limb or a difference of 〉3% between the limbs as a positive result may be appropriate. It should be emphasized that pulse-oximetry screening cannot be used as the only way to detect cCHD, clinical examination is also important in this situation. Cost-benefit analysis in the United Kingdom revealed it was plausible to use pulse oximetry as an adjunct to clinical examination. However, it is still controversial as to whether pulse oximetry can be used as a routine screening method for cCHD in neonates. Conclusions Neonatal pulse oximetry screening improves detection of cCHD. Further studies should be carried out before it becomes one of the routine newborn screening programs.

关键词： congenital heart disease pulse oximetry screening newborn

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Incidence of congenital heart disease in Beijing, China

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Chinese Medical Journal 2009年第10期122卷 1128-1132页

作者： YANG Xue-yong LI Xiao-feng LV Xiao-dong LIU Ying-long Pediatric Cardiac Center Department of Surgery Cardiovascular Institute and Fu Wai Hospital Chinese Academy of Medical Sciences & Peking Union Medical College Beijing 100037 China

Background The incidence of congenital heart disease has been studied in developed countries for many years, but rarely in the mainland of China. Fetal echocardiographic screening for congenital heart disease was first performed in Beijing in the early 2000s, but the impact was not clear. The current study was undertaken to determine the incidence of congenital heart disease in Beijing, China and to estimate the impact of fetal echocardiography on the incidence of liveborn congenital heart disease.Methods The study involved all infants with congenital heart disease among the 84 062 total births in Beijing during the period of January 1 and December 31, 2007. An echocardiographic examination was performed on every baby suspected to have congenital heart disease, prenatally or/and postnatally.Results A total of 686 infants were shown to have congenital heart disease among 84 062 total births. The overall incidence was 8.2/1000 total births. Mothers of 128 of 151 babies diagnosed prenatally were chosen to terminate the pregnancy. Two of the 151 infants died in utero. A specific lesion was identified for each infant and the frequencies of lesions were determined for each class of infants （total births, stillbirths and live births）. The incidence of congenital heart disease in stillbirths and live births was 168.8/1000 and 6.7/1000, respectively. The difference between the incidence of total birth and the incidence of live birth was statistically significant （P 〈0.001）. Conclusions The incidence of liveborn congenital heart disease in Beijing is within the range reported in developed countries. Fetal echocardiography reduce significantly the incidence of liveborn congenital heart disease.

关键词： incidence congenital heart disease prenatal diagnosis fetal echocardiography pregnancy termination

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Methodological study on real-time three-dimensional echo-cardiography and its application in the diagnosis of complex congenital heart disease

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Chinese Medical Journal 2006年第14期119卷 1190-1194页

作者： CHEN Guo-zhen, HUANG Guo-ying, LIANG Xue-cun, MA Xiao-jing, CHEN Wei-da, TAO Zi-yu and LIN Qi-shan Pediatric heart Center, Children’s Hospital of Fudan University Department of Pediatrics, Shanghai Medical College, Shanghai 200032, China Pediatric heart Center Children's Hospital of Fudan UniversityDepartment of Pediatrics Shanghai Medical College Shanghai 200032 China）

Background Real-time three-dimensional echocardiography （RT-3DE） has made revolutionized improvements of cardiac imaging during the past few years. However, there is no standard examination method for RT-3DE so far. This study aimed to establish the diagnostic method of RT-3DE and evaluate its application in the diagnosis of complex congenital heart diseases （CHD）. Methods Fifty patients with complex CHD were examined by RT-3DE with modes of Live 3DE and Full Volume. A series of novel volumetric views combined with Van Praagh sequential segmental approach were introduced to reveal the pathological morphology of the hearts, which were compared with the findings of two-dimensional echocardiography （2DE）, angiography and cardiac surgery. Results In 50 patients, 190 image acquisitions of Full Volume were performed at several acoustic windows including subcostal, apical and parasternal regions. Among them, 94.2% （179/190） of image acquisitions were successful. Most sectional volumetric views could be clearly displayed in 92.6% of the successful image acquisitions. However, sectional volumetric views could not be clearly displayed in 7.4%, which was mainly due to poor perspective conditions of examination location, improper instrument multi-parameter setting and insufficient information of whole heart captured in Full Volume acquisitions. As compared with surgical findings and angiography, RT-3DE made correction to the diagnoses in 2 cases including 1 with corrected transposition of the great arteries and the other with single atrium and mitral cleft. The diagnoses initially made by 2DE for these 2 patients were double outlet right ventricle with transposition of the great arteries and complete atrio-ventricular septal defect. Conclusions RT-3DE can clearly display the pathological morphology of complex CHD by a series of novel volumetric views combined with sequential segmental approach through providing more spatial informative cardiovascular structures, which provides a practical method for RT-3DE diagnosis.

关键词： congenital heart disease three-dimensional echocardiography real-time imaging

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GATA4 and NKX2.5 gene analysis in Chinese Uygur patients with congenital heart disease

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Chinese Medical Journal 2009年第4期122卷 416-419页

作者： ZHANG Wei-min LI Xiao-feng MA Zhong-yuan ZHANG Jing ZHOU Si-hai LI Tao SHI Lin LI Zhong-zhi Cardiac Center Beijing Children's Hospital Affiliated to CapitalMedical University Beijing100045 China Department of Cardiac Surgery People's General Hospital of Xinjiang Autonomous Region Urumqi Xinjiang 830001 China Department of Surgery Urumqi First Hospital Urumqi Xinjiang830002 China Department of General Surgery First Hospital Affiliated to Xinjiang Medical University Urumqi Xinjiang 830054 China Department of Cardiology Capital Institute of PediatricsBeijing 100020 China

Background congenital heart disease （CHD） is the most common developmental anomaly in newborns. The germline mutations in GATA4 and NKX2.5 genes have been identified as responsible for CHD. The frequency of GATA4 and NKX2.5 mutations in Chinese Uygur patients with CHD and the correlation between their genotype and CHD phenotype are unknown. Methods We examined the coding region of GATA4 and NKX2,5genes in 62 Chinese Uygur patients with CHD and 117 Chinese Uygur individuals as the controls by denaturing high pedormance liquid chromatography （DHPLC） and sequencing. Results Two heterozygous missense mutations of c.1220C〉A and c.1273G〉A in GATA4 gene, which cause the amino acid residue changes of P407Q and D425N in GATA4, were found in a patient with tetralogy of Fallot and a patient with ventricular septal defect, respectively. The two patients did not have atrioventricular conduct defects or non-cardiac abnormalities. The two mutations are expected to affect the protein function. There were no reported NKX2.5 mutations in the patients. Conclusion Our results provided the primary data on CHD phenotype associated with GATA4 mutation in the Chinese Uygur population.

关键词： GATA4 NKX2.5 congenital heart disease gene mutation

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Prevalence of congenital heart disease among Infants from 2012 to 2014 in Langfang, China

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Chinese Medical Journal 2017年第9期130卷 1069-1073页

作者： Peng-Fei Sun Gui-Chun Ding Min-Yu Zhang Sheng-Nan He Yu Gao Jian-Hua Wang Department of Ultrasound Aerospace Center Hospital Beijing 100049 China Department of Ultrasound PLA Army General Hospital Beijing 100700 China

Background： congenital heart disease （CHD） is the most common congenital malformations with high mortality and morbidity. The prevalence of CHD reported previously ranged from 4 per 1000 live births to 50 per 1000 live births. In this cross-sectional study, we aimed to document the prevalence of CHD in Langfang district of Hebei Province, China by analyzing data collected by hospitals located in 11 the counties of the district, as supported by a public health campaign. Methods： A total of 67,718 consecutive 3-month-old infants were included from July 19,2012 to July 18, 2014. Structural abnormalities were diagnosed based on echocardiography findings, including two-dimensional and color Doppler echocardiography results. Results： Of the 67,718 infants, 1554 were found to have cardiac structural abnormalities. The total prevalence of CHD was 22.9 per 1000 live births, a value significantly higher than the previously reported prevalence of 8 cases per 1000 live births. The top five most common cardiac abnormalities were as follows： atrial septal defect （ASD, 605 cases, 8.93‰）; ventricular septal defect （550 cases, 8.12‰）; patent ductus arteriosus （228 cases, 3.37‰）; pulmonary stenosis （66 cases, 0.97‰）; and tetralogy of Fallot （32 cases, 0.47‰）. The CHD prevalence differed by gender in this study （x^2 = 23.498, P 〈 0.001）, and the majority of ASD cases were females. Regional differences in prevalence were also found （x^2 = 24.602, P 〈 0.001）; a higher prevalence was found in urban areas （32.2 cases per 1000 live births） than in rural areas （21. 1 cases per 1000 live births）. There was a significant difference in the prevalence of CHD in preterm versus full-term infants （x^2 - 133.443, P 〈 0.001 ）. Prevalence of CHD in infants of maternal aged 35 years or over was significantly higher （x^2 86.917, P 〈 0.001）. Conclusions： The prevalence of CHD in Langfang district was within the range reported using echocardiography. Echocardiography can be used to early diagnose the CHD.

关键词： congenital heart disease Echocardiography Infants Prevalence

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Transcription factor HAND2 mutations in sporadic Chinese patients with congenital heart disease

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Chinese Medical Journal 2010年第13期123卷 1623-1627页

作者： SHEN Lei LI Xiao-feng SHEN A-dong WANG Qiang LIU Cai-xia GUO Ya-jie SONG Zhen-jiang LI Zhong-zhi Cardiac Centre Beijing Children's Hospital affiliated to Capital Medical University Beijing 100045 China Department of Orthopaedics Beijing Hospital Beijing 100730China

Background The basic helix-loop-helix transcription factor HAND2 plays an essential role in cardiac morphogenesis. However, the prevalence of HAND2 mutations in congenial heart disease （CHD） and the correlation between the HAND2 genotype and CHD phenotype have not been studied extensively. Methods We amplified the exons and the flanking intron sequences of the HAND2gene in 131 patients diagnosed with congenital defects of the right ventricle, outflow tract, aortic artery or cardiac cushion and confirmed the mutations by sequencing. Results Seven mutations including three missense mutations （P11R, S36N and V83L）, one isonymous mutation （H14H） and three mutations in untranslated region （241A〉G, 604C〉T and 3237T〉A） were identified in 12 out of the 131 patients. Both nonisonymous mutations are located in the transcriptional activation domain on the N-terminus. Only one mutation （S36N） was identified in 250 normal healthy controls. The distribution of 3637T〉A is the unique one which was different between the 2 groups. Conclusions HAND2 may be a potential candidate gene of stenosis of the right ventricle, outflow tract. Further study of those with a family history of HAND2 mutations will help convincingly relate their genotype to the pathogenesis of CHD.

关键词： bHLH HAND2 congenital heart disease transcription factor mutation

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The Application of an Anatomical Database for Fetal congenital heart disease

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Chinese Medical Journal 2015年第19期128卷 2583-2587页

作者： Li Yang Qiu-Yan Pei Yun-Tao Li Zhen-Juan Yang Department of Ultrasound Peking University People's HospitalBeijing 100044China Department of Obstetrics and Gynecology Peking University People's HospitalBeijing 100044China

Background：Fetal congenital heart anomalies are the most common congenital anomalies in live births.Fetal echocardiography （FECG） is the only prenatal diagnostic approach used to detect fetal congenital heart disease （CHD）.FECG is not widely used,and the antenatal diagnosis rate of CHD varies considerably.Thus,mastering the anatomical characteristics of different kinds of CHD is critical for ultrasound physicians to improve FECG technology.The aim of this study is to investigate the applications of a fetal CHD anatomic database in FECG teaching and training program.Methods：We evaluated 60 transverse section databases including 27 types of fetal CHD built in the Prenatal Diagnosis Center in Peking University People＇s Hospital.Each original database contained 400-700 cross-sectional digital images with a resolution of 3744 pixels × 5616 pixels.We imported the database into Amira 5.3.1 （Australia Visage Imaging Company,Australia） three-dimensional （3D） software.The database functions use a series of 3D software visual operations.The features of the fetal CHD anatomical database were analyzed to determine its applications in FECG continuing education and training.Results：The database was rebuilt using the 3D software.The original and rebuilt databases can be displayed dynamically,continuously,and synchronically and can be rotated at arbitrary angles.The sections from the dynamic displays and rotating angles are consistent with the sections in FECG.The database successfully reproduced the anatomic structures and spatial relationship features of different fetal CHDs.We established a fetal CHD anatomy training database and a standardized training database for FECG.Ultrasound physicians and students can learn the anatomical features of fetal CHD and FECG through either centralized training or distance education.Conclusions：The database of fetal CHD successfully reproduced the anatomic structures and spatial relationship of different kinds of fetal CHD.This database can be widely used in anatomy and FECG teaching and trai

关键词： Anatomic Database congenital heart disease Fetal

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Molecular mechanisms of congenital heart disease in down syndrome

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Genes & diseases 2019年第4期6卷 372-377页

作者： Hui Zhang Lingjuan Liu Jie Tian Department of Cardiology Heart CentreChildren’s Hospital of Chongqing Medical UniversityChongqing 400014China Ministry of Education Key Laboratory of Child Development and Disorders Key Laboratory of Pediatrics in ChongqingChongqing International Science and Technology Cooperation Center for Child Development and DisordersChongqing 400014China

Down syndrome(DS),as a typical genomic aneuploidy,is a common cause of various birth defects,among which is congenital heart disease(CHD).40e60%neonates with DS have some kinds of CHD.However,the molecular pathogenic mechanisms of DS associated CHD are still not fully understood.This review summarizes available studies on DS associated CHD from seven aspects so as to provide a crucial and updated overview of what we known so far in this domain.

关键词： Down syndrome congenital heart disease Molecular mechanisms

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Integrative modeling of transmitted and de novo variants identifies novel risk genes for congenital heart disease

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Quantitative Biology 2021年第2期9卷 216-227页

作者： Mo Li Xue Zeng Chentian Jin Sheng Chih Jin Weilai Dong Martina Brueckner Richard Lifton Qiongshi Lu Hongyu Zhao Department of Biostatistics Yale School of Public HealthNew HavenCT 06510USA Department of Genetics Yale UniversityNew HavenCT 06510USA Department of Molecular Cellular&Developmental BiologyYale UniversityCT 06510USA Department of Genetics Washington University School of MedicineSt LouisMO 63110USA Department of Pediatrics Yale UniversityNew HavenCT 06510USA Laboratory of Human Genetics and Genomics Rockefeller UniversityNew YorkNY 10065USA Department of Biostatistics and Medical Informatics University of Wisconsin-MadisonMadisonWl 53792USA Program of Computational Biology and Bioinformatics Yale UniversityNew HavenCT 06510USA

Background:Whole-exome sequencing(WES)studies have identified multiple genes enriched for de novo mutations(DNMs)in congenital heart disease(CHD)probands.However,risk gene identification based on DNMs alone remains statistically challenging due to heterogenous etiology of CHD and low mutation rate in each gene.Methods:In this manuscript,we introduce a hierarchical Bayesian framework for gene-level association test which jointly analyzes de novo and rare transmitted variants.Through integrative modeling of multiple types of genetic variants,gene-level annotations,and reference data from large population cohorts,our method accurately characterizes the expected frequencies of both de novo and transmitted variants and shows improved statistical power compared to analyses based on DNMs only.Results:Applied to WES data of 2,645 CHD proband-parent trios,our method identified 15 significant genes,half of which are novel,leading to new insights into the genetic bases of CHD.Conclusion:These results showcase the power of integrative analysis of transmitted and de novo variants for disease gene discovery.

关键词： rare variants gene-level association test congenital heart disease de novo mutation

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Association between SNP rs10569304 on the Second Expressed Region of Hole Gene and the congenital heart disease

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Journal of Huazhong University of Science and Technology(Medical Sciences) 2010年第4期30卷 430-436页

作者：张亚莉徐琳邱健李志梁李林海任广立董爱荣李炳玲葛明晓蒙仕仁王剑青 Department of Clinical Laboratory Medicine Guiyang Medical College Department of Cardiology Guangzhou General Hospital of Guangzhou Military Command of PLA Department of Cardiology Zhujiang Hospital of Southern Medical University

The correlation of single nucleotide polymorphism (SNP) rs10569304 on the second expressed region of hole gene and congenital heart disease (CHD) of human being, and the effect of hole gene on CHD were investigated. 179 patients with CHD as CHD group and 183 healthy people as control group were selected in the case-control study. DNA was abstracted from the peripheral blood by phenol-chloroform method. Primer was designed for the flanking sequence of SNP rs10569304 on the second expressed region of hole gene. The genotype was identified by PCR degenerative acrylamide electrophoresis with amplification products. Then the three amplification products received sequencing. By chi-square test, the genotype frequency and allele frequency in CHD group and control group were analyzed. There was insertion-deletion (GCC/-) of SNP rs10569304 which corresponded to alleles of A and B in Southern Chinese people. The genotype frequency and allele frequency in control group and CHD group were met the Hardy-Weinberg equilibrium. By chi-square test, in control group and CHD group, the genotype frequency of AA (insertion homozygous), AB (insertion-deletion heterozygous) and BB (deletion homozygous) was 21.31%, 54.09%, 24.59% and 16.75%, 46.36%, 36.87%, respectively. The distributional difference of genotype frequency had statistical significance (χ2=6.51, P<0.05); The allele frequency of A and B was 48.36% and 51.64% in control group, 39.94% and 60.06% in CHD group, respectively. The distribu- tional difference of allele frequency had statistical significance (χ2=5.20, P<0.05). Meanwhile, by contrast with the control group, the BB genotype frequency and B allele frequency in CHD group was higher, but the AA and AB frequency was lower. There was higher risk to suffer from CHD involving B allele. BB genotype had 1.907-fold increased risk of developing CHD according to AA genotype (P<0.05). It is concluded that there is insertion-deletion (GCC/-) of SNP rs10569304 in the Southern Chinese people, and the people whose hole gene involvin

关键词： congenital heart disease hole gene single nucleotide polymorphism

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