Screening for congenital heart defects: diversified strategies in current China

BackgroundCongenital heart defects (CHD) is the most common type of birth defect and a leading cause of infant mortality in China. Detection of CHD during newborn is still challenging. The contradiction between the increasingly mature technology of diagnosis and treatment and the inability of early detection is the biggest current dilemma. A few pilot studies attempt to establish the universal screening for CHD in newborns; however, the rate of misdiagnosis is still high in most Chinese hospitals, especially in some undeveloped middle-western regions.Data sourcesBased on the recent publications on screening of congenital heart diseases in China. We reviewed the use of diversified screening strategies in current China.ResultsPrenatal diagnosis by fetal echocardiography and postnatal detection by pulse oximetry combined with clinical assessment are the useful methods for CHD screening in most areas. The altitude should be taken into account when using pulse oximetry in the middle-western areas of China, where the incidence of CHD maybe higher. Echocardiography is suitable for CHD screening in almost all areas but it could add to financial burden in the developing regions. Genetic analysis could assist clinical doctors to perform more earlier screening and give better counseling regarding the outcome. Due to disparities in economic and medical resources, the screening system should be carried out from multiple perspectives according to the present economic development. Notably, follow-up is an important issue in the screening of CHD, especially for the asymptomatic babies who discharged home. Policies should be formulated to address the epidemiology of CHD in deprived areas to better allocate medical resources and to develop local training programmes to screen and diagnose CHD.ConclusionsDiversified strategies are available in current China. The two-indicator method for CHD screening is recommended to be implemented in routine postnatal care. We can do more in screening for CHD in the future.

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Fetal echocardiography in Lithuania: traditions, significance and problems

Acta medica Lituanica ◽

10.15388/amed.2010.21684 ◽

2010 ◽

Vol 17 (3-4) ◽

pp. 116-122

Author(s):

Ramunė VANKEVIČIENĖ

Keyword(s):

Congenital Heart Defects ◽

Congenital Heart ◽

Heart Diseases ◽

Fetal Echocardiography ◽

Heart Defects ◽

Tertiary Care ◽

Congenital Heart Diseases ◽

Conduction Disturbances ◽

Tertiary Care Centers ◽

Almost All

Background. The discovery of ultrasound has made a revolution in almost all fields of medicine. The past three decades have withessed an intensive development of fetal echocardiography methods and technique. The aim of the paper is to present a review of the results and trends of the last 10 years of fetal echocardiography in Lithuania and to show the spectrum and outcomes of prenatally detected congenital heart diseases. Materials and methods. Fetal echocardiography was performed for 1816 fetuses during the period from 1999 to 2009. Results. Cardiac pathology was diagnosed in 176 (9.7%) fetuses. Heart defects were detected in 112 (63.6%) of them, cardiac rhythm and conduction disturbances in 62 (35.2%), cardiomyopathy in 2 (1.1%) fetuses, and heart rhabdomyoma in 1 (0.6%) fetus. The general rate of the postnatal diagnosis of congenital heart defects in Lithuania was about 10%. Most of fetal cardiac diseases (70.5%) were diagnosed after 22 weeks of gestation. Because most of antenatally diagnosed congenital heart defects (74%) were critical and inconsistent with life, a large part of newborns (40.2%) died in the neonatal period, 10.7% of fetuses died in utero, and 8% of pregnancies were terminated by abortion. The data demonstrate good tendencies: the diagnosis has become earlier, a wider spectrum of diseases have been diagnosed, more newborns have survived. Our survey shows that 41.1% of newborns with prenatally diagnosed congenital heart defects have survived. Conclusions. 10% of severe congenital heart diseases are detected prenatally in Lithuania. The efficacy of antenatal diagnostics depends on the qualification of specialists, the number of tertiary care centers, on a successful collaboration among pediatric cardiologists, obstetricians and geneticists. The main problem is an insufficient preparation of obstetricians, the uncertified favor of pediatric cardiologist. Keywords: congenital heart disease, fetal echocardiography, antenatal diagnostics

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Faculty Opinions recommendation of Pulse oximetry screening for critical congenital heart defects in asymptomatic newborn babies: a systematic review and meta-analysis.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.717697909.793152973 ◽

2012 ◽

Author(s):

Willem Helbing

Keyword(s):

Systematic Review ◽

Pulse Oximetry ◽

Congenital Heart Defects ◽

Congenital Heart ◽

Heart Defects ◽

Meta Analysis ◽

Pulse Oximetry Screening

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Personalized Genetic Diagnosis of Congenital Heart Defects in Newborns

Journal of Personalized Medicine ◽

10.3390/jpm11060562 ◽

2021 ◽

Vol 11 (6) ◽

pp. 562

Author(s):

Olga María Diz ◽

Rocio Toro ◽

Sergi Cesar ◽

Olga Gomez ◽

Georgia Sarquella-Brugada ◽

...

Keyword(s):

Congenital Heart Disease ◽

Heart Disease ◽

Congenital Heart Defects ◽

Congenital Malformations ◽

Congenital Heart ◽

Heart Diseases ◽

Heart Defects ◽

Genetic Diagnosis ◽

Single Nucleotide Variants ◽

Personalized Approach

Congenital heart disease is a group of pathologies characterized by structural malformations of the heart or great vessels. These alterations occur during the embryonic period and are the most frequently observed severe congenital malformations, the main cause of neonatal mortality due to malformation, and the second most frequent congenital malformations overall after malformations of the central nervous system. The severity of different types of congenital heart disease varies depending on the combination of associated anatomical defects. The causes of these malformations are usually considered multifactorial, but genetic variants play a key role. Currently, use of high-throughput genetic technologies allows identification of pathogenic aneuploidies, deletions/duplications of large segments, as well as rare single nucleotide variants. The high incidence of congenital heart disease as well as the associated complications makes it necessary to establish a diagnosis as early as possible to adopt the most appropriate measures in a personalized approach. In this review, we provide an exhaustive update of the genetic bases of the most frequent congenital heart diseases as well as other syndromes associated with congenital heart defects, and how genetic data can be translated to clinical practice in a personalized approach.

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