RxPG News Feed for RxPG News

Medical Research Health Special Topics World
  Home
 
   Health
 Aging
 Asian Health
 Events
 Fitness
 Food & Nutrition
 Happiness
 Men's Health
 Mental Health
 Occupational Health
 Parenting
 Public Health
 Sleep Hygiene
 Women's Health
 
   Healthcare
 Africa
 Australia
 Canada Healthcare
 China Healthcare
 India Healthcare
 New Zealand
 South Africa
 UK
 USA
 World Healthcare
 
 Latest Research
 Aging
 Alternative Medicine
 Anaethesia
 Biochemistry
 Biotechnology
 Cancer
 Cardiology
 Clinical Trials
 Cytology
 Dental
 Dermatology
 Embryology
 Endocrinology
 ENT
 Environment
 Epidemiology
 Gastroenterology
 Genetics
 Gynaecology
 Haematology
 Immunology
 Infectious Diseases
 Medicine
 Metabolism
 Microbiology
 Musculoskeletal
 Nephrology
 Neurosciences
 Obstetrics
 Ophthalmology
 Orthopedics
 Paediatrics
 Pathology
 Pharmacology
 Physiology
 Physiotherapy
 Psychiatry
 Radiology
 Rheumatology
 Sports Medicine
 Surgery
 Toxicology
 Urology
 
   Medical News
 Awards & Prizes
 Epidemics
 Launch
 Opinion
 Professionals
 
   Special Topics
 Ethics
 Euthanasia
 Evolution
 Feature
 Odd Medical News
 Climate

Last Updated: Feb 19, 2013 - 1:22:36 AM
Research Article
Latest Research Channel

subscribe to Latest Research newsletter
Latest Research

   EMAIL   |   PRINT
Genetic heart diseases may be responsible for unexplained stillbirths

Jun 25, 2012 - 4:00:00 AM
We have also identified new candidate genes which may be linked to cardiac channelopathies, and we will investigate them in our follow-up work, says Ms Ghidoni. Our current work shows that nearly 3% of IUFDs may be caused by a genetic variant with a cardiac disease-causing role, and another 5% by a variant that may predispose to disease. We believe that the new candidate genes may enlarge this field yet further. This is vitally important because we can then depict a clear picture of arrhythmic risk in perinatal life, both before and after birth.

 
[RxPG] Nuremberg, Germany: Genetic researchers have made an important step towards resolving the mystery of the causes of intrauterine fetal demise (IUFD), or stillbirth, where a baby dies in the womb after the 14th week of gestation. IUFD is responsible for 60% of perinatal mortality and occurs in about one in every two hundred pregnancies in Europe. Up to half of these stillbirths are unexplained. Now scientists from Italy, Germany, and the US have found that up to 8% [1] of these unexplained deaths may be caused by specific genetic heart conditions.

Ms Alice Ghidoni, a PhD student at the University of Pavia, Italy, will tell the annual conference of the European Society of Human Genetics today (Tuesday) that the group's research shows for the first time that cardiac channelopathies, hereditary diseases in which the heartbeat rhythm is disturbed, were likely to have played a causative role in some IUFD deaths . Since we knew that 10-15% of sudden infant death syndrome cases carry genetic variants associated with long QT syndrome or Brugada syndrome[2], we decided to investigate whether sudden death due to malignant arrhythmias could underlie some cases of IUFD as well, she will explain.

The researchers carried out molecular screening of stillborn fetuses where the cause of death remained unexplained after extensive post-mortem investigation. Informed consent was obtained from the parents. They looked for mutations of three genes, two of them involved in long QT and one in both long QT and Brugada syndromes, and found three disease-causing variants that were present in the IUFD cases, but absent in more than 1000 ethnically-matched controls.

Genetic testing is still quite rare in IUFD, but it is an important tool for uncovering the causes of unexplained death, says Ms Ghidoni. The most common causes of fetal death are chromosomal abnormalities, infections, fetal-maternal haemorrhages, and maternal diseases, she says. Most of these are relatively easy to identify. Since genetic screening is a long, expensive and complicated procedure, currently it is not routinely performed in cases where an autopsy has not shown the cause of death. However, such molecular investigation could be very useful to identify specific genetic defects occurring in the family, so that future pregnancies can be monitored with close clinical follow-up. In some cases, life-saving treatment could be given.

Identification of a fetus with a gene mutation for a cardiac channelopathy allows for treatment for the mother with drugs such as beta-blockers, the same treatment that is given to adults who have been identified with long QT syndrome.

Because the research was carried out by scientists from a number of different centres and countries, it was not possible to systematically collect parental DNA. However, as part of the planned expansion of the investigation, the researchers now intend to enlarge the study population further and to collect DNA from all family members. Cardiac channelopathies run in families, so genetic testing will be able to identify not just those parents who are at risk of an affected pregnancy, but also all family members who may be unaware that they have a potentially fatal heart condition.

We have also identified new candidate genes which may be linked to cardiac channelopathies, and we will investigate them in our follow-up work, says Ms Ghidoni. Our current work shows that nearly 3% of IUFDs may be caused by a genetic variant with a cardiac disease-causing role, and another 5% by a variant that may predispose to disease. We believe that the new candidate genes may enlarge this field yet further. This is vitally important because we can then depict a clear picture of arrhythmic risk in perinatal life, both before and after birth.

We believe that it is very important to increase knowledge of these genetic disorders among paediatric cardiologists and gynaecologists and that genetic testing should be included in post-mortem analysis. Many more lives can be saved if there is sufficient awareness of these devastating conditions among healthcare professionals, as well as among the affected families who in many cases have already suffered enough, Ms Ghidoni will conclude.(ends)



Related Latest Research News
How do consumers see a product when they hear music?
Drug activates virus against cancer
Bone loss associated with increased production of ROS
Sound preconditioning prevents ototoxic drug-induced hearing loss in mice
Crystal methamphetamine use by street youth increases risk of injecting drugs
Johns Hopkins-led study shows increased life expectancy among family caregivers
Moderate to severe psoriasis linked to chronic kidney disease, say experts
Licensing deal marks coming of age for University of Washington, University of Alabama-Birmingham
Simple blood or urine test to identify blinding disease
Physician job satisfaction driven by quality of patient care

Subscribe to Latest Research Newsletter

Enter your email address:


 Feedback
For any corrections of factual information, to contact the editors or to send any medical news or health news press releases, use feedback form

Top of Page

 
Contact us

RxPG Online

Nerve

 

    Full Text RSS

© All rights reserved by RxPG Medical Solutions Private Limited (India)