[Prenatal diagnosis of congenital heart diseases].

نویسنده

  • D Bonnet
چکیده

Congenital heart disease is the leading cause of birth defect worldwide. Genetic mutation is a major contributor to certain types of congenital heart diseases, such as Tuberous sclerosis (TSC) and Marfan syndrome. Here I introduce a feasible pipeline for prenatal diagnosis of congenital heart diseases. Patients are enrolled due to either familial history of genetic mutation or abnormality during prenatal screening. Invasive and non-invasive methods are employed to analysis fetal genetic variations. Preliminary results have demonstrated the power of our pipeline. We hope our method can be further improved and adopted by clinics in the near future. Date : 3 March 2017 (Friday) Time : 4:00 p.m. Venue : Lecture Theatre C The Hong Kong University of Science & Technology Clear Water Bay, Kowloon (Host faculty : Dr. Angela WU) All are Welcome!!

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Complications of Corrective Surgery in Preterm Neonates with Congenital Heart Defects: What is the Solution?

Mild congenital heart defects require no treatment, while severe forms of these diseases need immediate interventions. There are several limits in preterm neonates on drug interventions, interventional procedures, and even heart surgery due to the prematurity of pulmonary, renal, and central nervous systems. Considering the mentioned points, the collaboration of other medical professions, parti...

متن کامل

Prenatal diagnostic methods

Prenatal Diagnosis is the most reliable way of preventing genetic diseases that has been implicated in many countries and has prevented the birth of newborns with different hereditary, congenital and genetic diseases during the past few years. Prenatal diagnosis is actually the use of various diagnostic methods to check the condition of the fetus during pregnancy, because postnatal genetic diso...

متن کامل

[Complex Congenital Heart Disease: The Influence of Prenatal Diagnosis].

INTRODUCTION Complex congenital heart disease is a group of severe conditions. Prenatal diagnosis has implications on morbidity and mortality for most severe conditions. The purpose of this work was to evaluate the influence of prenatal diagnosis and distance of residence and birth place to a reference center, on immediate morbidity and early mortality of complex congenital heart disease. MAT...

متن کامل

Evolution of foetal echocardiography as a screening tool for prenatal diagnosis of congenital heart disease.

Congenital cardiac anomalies are the most common anomalies, with an estimated incidence of about 4-13 per 1000 live births. Proper perinatal and neonatal management is dependent upon accurate prenatal diagnosis. Approximately 10% of foetuses with cardiac abnormalities have identified risk factors; hence, most of the anomalies occur in pregnancies without prenatal risk factors. Foetal echocardio...

متن کامل

Prenatal diagnosis of structural heart disease: does it make a difference to survival?

There are two potential advantages of mid trimester diagnosis of fetal heart disease. Perinatal management in an environment where the appropriate expertise is available and prepared might result in improved outcomes after intervention in the newborn period in situations where this is required. Alternatively, prenatal diagnosis of congenital heart disease allows consideration of termination of ...

متن کامل

Isolated levocardia: A case report

Introduction: Levocardia with situs inversus, a rare congenital disorder, is usually associated with severe cyanotic congenital heart disease. Thus these patients have adverse prognosis. Case Report: A 2-day-old neonate with mild central cyanosis was admitted to Neonatal Intensive Care Unit (NICU). Prenatal sonographies were normal. Physical exam was normal except for 2/6 heart murmur in left s...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

دوره 16 6  شماره 

صفحات  -

تاریخ انتشار 2009