Genetic carrier screening should be recommended for all couples planning a family

November 9, 2017, Murdoch Childrens Research Institute
Genetic carrier screening should be recommended for all couples planning a family
Credit: Murdoch Childrens Research Institute

New research by the Murdoch Children's Research Institute (MCRI) has shown that the combined affected pregnancy rate of cystic fibrosis (CF), fragile X syndrome (FXS) and spinal muscular atrophy (SMA) is comparable to the population risk for Down syndrome – highlighting the need to routinely offer carrier screening.

Testing for Down syndrome has been routinely offered for over twenty years, yet most aren't offering screening for other serious inherited conditions to couples planning a family, even though these tests have been available since 2012. This because there is a common misconception that testing is only relevant to those individuals with a known .

These three genetic conditions – CF, FXS and SMA - have serious health consequences and are some of the most common inherited conditions in the general population. They are the three conditions that meet key criteria for population screening indicated by the relevant professional bodies.

Senior author, Professor David Amor said that professional bodies recommend that all couples considering or in early pregnancy be informed that testing for these conditions is available.

"In fact, offering screening for these conditions is recommended even when there is no family history."

The research, published in Genetics in Medicine, evaluated the 'prepair' genetic screening program and found that 1 in 20 people screened are carriers of at least one of the three conditions.

  • 88% of carriers had no family history of the condition highlighting that screening is relevant to everyone
  • One in 240 couples had an increased risk of having a child with these and approx.
  • Approximately 1 in 1000 pregnant women screened had an affected pregnancy which is comparable to the estimated incidence of Down syndrome

The test offered by the Victorian Clinical Genetics Services (VCGS) is simple and can be performed on a blood or saliva sample, typically beginning with testing the female partner. It can be performed before pregnancy or in (prior to 12 weeks).

Having the test before a woman is pregnant means there is time to consider the options if they are found to be a carrier of CF, FXS or SMA.

Cystic Fibrosis Community Care, the Fragile X Association of Australia and Spinal Muscular Atrophy Australia Inc. support offering carrier screening for CF, FXS and SMA and have endorsed this program.

First author, Dr Alison Archibald, Associate Genetic Counsellor with VCGS said, "It's important that all carriers are given the option of genetic counselling so they can discuss the implications of their results with an expert."

Explore further: ACOG recommends use of carrier screening before pregnancy

Related Stories

ACOG recommends use of carrier screening before pregnancy

February 27, 2017
(HealthDay)—The American College of Obstetricians and Gynecologists (ACOG) recommends use of carrier screening for all women, according to two Committee Opinions published in the March issue of Obstetrics & Gynecology.

What is pre-pregnancy carrier screening and should potential parents consider it?

July 14, 2017
The American College of Obstetricians and Gynecologists recently recommended obstetricians, gynaecologists and other related health care providers offer pre-pregnancy carrier screening for genetic diseases to all patients.

The future in your genes

October 4, 2013
Would be parents are opting for cystic fibrosis (CF) carrier screening tests to assess the chances of having a baby suffering with CF, a life-shortening genetic disorder with no cure.

Opinion: Why we should be worried about gene-carrier screening

August 2, 2017
The ability to cheaply and quickly sequence entire genomes is changing the way diseases are identified and treated. But it is also likely to change the way we make some of the most important and personal decisions of our ...

New DNA antenatal screening for Down's syndrome shown to be a 'transformational advance'

November 8, 2017
Medical scientists at Queen Mary University of London (QMUL) have demonstrated for the first time that it is possible to incorporate DNA analysis into antenatal screening for three serious chromosome disorders, including ...

Recommended for you

Analytical tool predicts genes that can cause disease by producing altered proteins

July 19, 2018
Predicting genes that can cause disease due to the production of truncated or altered proteins that take on a new or different function, rather than those that lose their function, is now possible thanks to an international ...

Childhood stress leaves lasting mark on genes

July 18, 2018
Kids who experience severe stress are more likely to develop a host of physical and mental health problems by the time they reach adulthood, including anxiety, depression and mood disorders. But how does early life stress ...

Study shows DNA methylation related to liver disease among obese patients

July 18, 2018
DNA methylation is a molecular process that helps enable our bodies to repair themselves, fight infection, get rid of environmental toxins, and even to think. But sometimes this process goes awry.

Protein found to be key component in irregularly excited brain cells

July 17, 2018
In a new study in mice, researchers have identified a key protein involved in the irregular brain cell activity seen in autism spectrum disorders and epilepsy. The protein, p53, is well-known in cancer biology as a tumor ...

World's largest study on allergic rhinitis reveals new risk genes

July 17, 2018
An international team of scientists led by Helmholtz Zentrum München and University of Copenhagen has presented the largest study so far on allergic rhinitis in the journal Nature Genetics. The data of nearly 900,000 participants ...

New platform poised to be next generation of genetic medicines

July 16, 2018
A City of Hope scientist has discovered a gene-editing technology that could efficiently and accurately correct the genetic defects that underlie certain diseases, positioning the new tool as the basis for the next generation ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.