Featured Research

from universities, journals, and other organizations

Genetic heart diseases may be responsible for unexplained stillbirths

Date:
June 25, 2012
Source:
European Society of Human Genetics (ESHG)
Summary:
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 have found that up to 8% of these unexplained deaths may be caused by specific genetic heart conditions.

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.

Related Articles


Ms Alice Ghidoni, a PhD student at the University of Pavia, Italy, will tell the annual conference of the European Society of Human Genetics June 26 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.

(1) These figures differ from those in the abstract as they have been updated since it was submitted

[2]Long QT and Brugada syndromes are conditions whereby an irregular heartbeat leads to syncopes, cardiac arrest and sudden death due to mutations in cardiac ionic channels able to induce arrhythmias. They are best known for causing sudden unexplained death in young adults. While these syndromes can be identified through complete and accurate clinical evaluation and genetic testing, in most cases it is not until a sudden death has occurred that their existence is suspected.


Story Source:

The above story is based on materials provided by European Society of Human Genetics (ESHG). Note: Materials may be edited for content and length.


Cite This Page:

European Society of Human Genetics (ESHG). "Genetic heart diseases may be responsible for unexplained stillbirths." ScienceDaily. ScienceDaily, 25 June 2012. <www.sciencedaily.com/releases/2012/06/120625202838.htm>.
European Society of Human Genetics (ESHG). (2012, June 25). Genetic heart diseases may be responsible for unexplained stillbirths. ScienceDaily. Retrieved November 26, 2014 from www.sciencedaily.com/releases/2012/06/120625202838.htm
European Society of Human Genetics (ESHG). "Genetic heart diseases may be responsible for unexplained stillbirths." ScienceDaily. www.sciencedaily.com/releases/2012/06/120625202838.htm (accessed November 26, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Wednesday, November 26, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Pet Dogs to Be Used in Anti-Ageing Trial

Pet Dogs to Be Used in Anti-Ageing Trial

Reuters - Innovations Video Online (Nov. 26, 2014) Researchers in the United States are preparing to discover whether a drug commonly used in human organ transplants can extend the lifespan and health quality of pet dogs. Video provided by Reuters
Powered by NewsLook.com
From Popcorn To Vending Snacks: FDA Ups Calorie Count Rules

From Popcorn To Vending Snacks: FDA Ups Calorie Count Rules

Newsy (Nov. 25, 2014) The US FDA is announcing new calorie rules on Tuesday that will require everywhere from theaters to vending machines to include calorie counts. Video provided by Newsy
Powered by NewsLook.com
Daily Serving Of Yogurt Could Reduce Risk Of Type 2 Diabetes

Daily Serving Of Yogurt Could Reduce Risk Of Type 2 Diabetes

Newsy (Nov. 25, 2014) Need another reason to eat yogurt every day? Researchers now say it could reduce a person's risk of developing type 2 diabetes. Video provided by Newsy
Powered by NewsLook.com
Madagascar Working to Contain Plague Outbreak

Madagascar Working to Contain Plague Outbreak

AFP (Nov. 24, 2014) Madagascar said Monday it is trying to contain an outbreak of plague -- similar to the Black Death that swept Medieval Europe -- that has killed 40 people and is spreading to the capital Antananarivo. Duration: 00:42 Video provided by AFP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins