Prenatal diagnosis of pulmonary atresia with ventricular septal defect

Yang, Shuihua; Luo, Peng-Hui; Tian, Xiaoling; Li, Xinyan; Yang, Zuojian; Li, Shengli

doi:10.1007/s10396-017-0809-2

Cited by 4 publications

(2 citation statements)

References 11 publications

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“…In 1976, Xinhua Hospital pioneered cardiac angiography assessment for children with CHD in China. [54][55][56][57] In 1981, Xinhua Hospital reported a case of percutaneous balloon atriostomy to treat complete transposition of great arteries in neonates, [58] demonstrating a pioneering interventional treatment for CHD in China. Similarly, in 1986, Xinhua Hospital conducted the ultrasonic diagnosis of CHD.…”

Section: Construction Of Xinhua Intrauterine Diagnosis Systemmentioning

confidence: 99%

The Construction of an Intrauterine Diagnosis and Treatment System and Comprehensive Lifecycle Health Service of Congenital Heart Disease: Xinhua Hospital Model

Jiang

Wang

et al. 2023

Cardiology Discovery

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With the growing influence of slow population growth and population aging, China has established the birth policy and issued a series of documents to promote maternal and fetal health and improve the birth rate. With the increase in prevalence of birth defects, timely diagnosis and intervention in utero provide possibilities to reduce unnecessary abortions and offer better prognosis. Congenital heart disease (CHD), as one of the most common congenital birth defects, is the leading cause of mortality in patients aged <5 years, and brings a heavy burden to both the affected families and society. Fetuses with CHD are associated with an increased risk of pregnancy-related complications and premature birth, and children with CHD typically face growth and developmental problems even after the correction of malformation. Therefore, management including diagnosis, treatment, and rehabilitation throughout the fetal period into childhood and even adulthood is essential for children with CHD. Based on the rapid advances in intrauterine and perinatal medicine and an in-depth collaboration among obstetrics and pediatrics, a novel diagnosis and treatment system has been established for the management of CHD in the past 2 decades in Shanghai Xinhua Hospital. This Intrauterine Diagnosis and Treatment System and Comprehensive Lifecycle Health Service of Congenital Heart Disease model provides prenatal diagnosis, intrauterine intervention, delivery room service and neonatal therapies, and postintrauterine rehabilitation for children with CHD. We have developed a four-dimensional spatiotemporal image correlation echocardiography and a three-dimensional cardiac virtual endoscopy system for the intrauterine diagnosis of CHD, dramatically raising the diagnostic utility. Our innovative and independent newborn-intervention technique has effectively reduced the re-intervention rate in patients with pulmonary atresia with intact ventricular septum and critical pulmonary stenosis. In 2018, Xinhua Hospital independently performed the case of fetal aortic valvuloplasty in Asia through a multidepartment collaborative effort. All children treated in this system achieved biventricular circulation and a better long-term postoperative outcome. We also have conducted postoperative rehabilitation therapy to promote the development and health of children with CHD. The practice of Xinhua model has reduced unnecessary abortion of CHD fetuses, reduced the mortality rate associated with critical CHD, and improved the mid- and long-term prognosis in CHD, which is essential to promote the fertility level and children’s health. Furthermore, translational medicine platform and the birth cohort Early Life Plan was constructed to explore the origins of major developmental diseases and establish an early intervention model in CHD. This practice of assessment of the intrauterine system has been expanded to other congenital defects in Xinhua Hospital, and sequential treatment of more than 2,000 cases has been completed to date. Based on practice in intrauterine management of CHD and other diseases, the concept of Intrauterine Pediatrics was proposed as a first to emphasize early prevention and intervention of childhood diseases and promote a comprehensive lifecycle service for children. The development and evolution of this system requires further attention not only from researchers but also from the government and global medical communities.

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Section: Construction Of Xinhua Intrauterine Diagnosis Systemmentioning

confidence: 99%

The Construction of an Intrauterine Diagnosis and Treatment System and Comprehensive Lifecycle Health Service of Congenital Heart Disease: Xinhua Hospital Model

Jiang

Wang

et al. 2023

Cardiology Discovery

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“…During fetal life, the development of prenatal ultrasound technology and a better understanding of the progression of pulmonary atresia have become crucial points for the choice of lifetime medical care, including multiple surgeries or other interventions. However, ultrasound examination could not detect all potentially effected children, especially those with major artery-pulmonary collateral arteries (MAPCAs) [3]. Under normal circumstances, patients do not suffer purely from PA. Usually, PA patients can survive with other heart diseases.…”

Section: Introductionmentioning

confidence: 99%

Whole Exome Sequencing Identifies A Novel Pathogenic Bmpr2 Variant in Pulmonary Atresia

Qi¹,

Lan²,

Li³

et al. 2021

Congenital Heart Disease

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Objective: Pulmonary atresia (PA) is a rare type of complex cyanotic congenital heart defect characterized primarily by an undeveloped pulmonary valve or pulmonary artery. Therefore, defining a disease-causing gene mutation in a pulmonary atresia family is a possible method of genetic counseling, future prenatal diagnosis, and therapeutic approaches for pulmonary atresia. Methods: Blood samples were collected from six PA family members, and genomic DNA was extracted using the QIAamp DNA Blood Mini Kit. Gene detection was performed using a second-generation sequencing gene panel. Results: Genetic testing results indicated that a heterozygous mutation originating from maternal inheritance was detected in the BMPR2 gene of the proband's genomic DNA. The pathogenic gene was c.2804C>T (p. A935V). The mutation was also detected in the genomic DNA of the proband's elder brother (III-1), but not in other family members. Conclusion: To the best of our knowledge, this is the first study to report the BMPR2 variant responsible for pulmonary atresia. The frequency of the c.2804C>T (p. A935V) mutation detected in this family is extremely low in the normal population (1/246048). The mutation was highly conserved among different species. Sorting intolerant from tolerant (SIFT) predicts it to be a harmful mutation.

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Imaging of Pulmonary Atresia With Ventricular Septal Defect

Razek

Al-Marsafawy

Elmansy

2019

J Comput Assist Tomogr

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The aim of this article was to review computed tomography angiography and magnetic resonance angiography of pulmonary atresia with ventricular septal defect. This disorder is a rare complex congenital heart disease. Preoperative imaging of pulmonary atresia with ventricular septal defect with computed tomography angiography and magnetic resonance angiography is important for complete anatomical delineation and planning for treatment. Preoperative imaging used for assessment of the main pulmonary artery (its size, valve, and confluence), aortopulmonary collaterals (its origin, insertion, course, and size), presence of patent ductus arteriosus, other sources of collaterals as bronchial and coronary arteries, and pattern of pulmonary arborization. Imaging can detect associated aortic, pulmonary venous and coronary anomalies, and other congenital heart disease. Postoperative imaging after unifocalization and stent is for assessment of patency, stenosis, and occlusion of stent or perivascular lesions as seroma.

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Prenatal diagnosis of pulmonary atresia with ventricular septal defect

Cited by 4 publications

References 11 publications

The Construction of an Intrauterine Diagnosis and Treatment System and Comprehensive Lifecycle Health Service of Congenital Heart Disease: Xinhua Hospital Model

The Construction of an Intrauterine Diagnosis and Treatment System and Comprehensive Lifecycle Health Service of Congenital Heart Disease: Xinhua Hospital Model

Whole Exome Sequencing Identifies A Novel Pathogenic Bmpr2 Variant in Pulmonary Atresia

Imaging of Pulmonary Atresia With Ventricular Septal Defect

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