Nav: Home

Causes of major birth defects still largely unknown

May 30, 2017

Causes of major birth defects remain largely unknown, say US researchers in The BMJ today, who were able to establish a definite cause in only one in every five infants they studied.

They say their findings "underscore the gaps in our knowledge regarding the causes of birth defects."

And they warn that, "unless progress is made in identifying and preventing the root causes of birth defects, these conditions will continue to have draining effects on the survival and health of individuals, families, and countries."

Major birth defects are common, costly, and critical. Collectively, they occur in one in 33 births, which in 2006 translated into an estimated 7.9 million babies worldwide.

In the US alone, the cost of care during a single year (2004) was estimated at $2.6bn (£2bn, €2.4bn), not accounting for the considerable indirect and lifelong personal and societal costs. In the US, birth defects are also the leading cause of infant mortality and in 2013 were associated with 4,778 deaths, one in every five deaths in the first year of life.

While studies have shown associations between risk factors (such as maternal diabetes, smoking and obesity) and birth defects, translating these associations to actual causes has been difficult.

So a team of researchers based at the University of Utah School of Medicine set out to establish causes (etiology) of major birth defects in children born from 2005 to 2009 using Utah's population based surveillance system.

They identified 5,504 cases among 270,878 births (a prevalence of 2%).

Definite cause was assigned in 20.2% (1,114) of these cases: chromosomal or genetic conditions accounted for 94.4% (1,052), environmental (teratogenic) exposure for 4.1%, and conditions associated with twins for 1.4%

The 79.8% (4,391) remaining were classified as unknown etiology; of these 88.2% (3,875) were isolated birth defects. Family history (similarly affected first degree relative) was documented in 4.8% (266).

These findings underscore the gaps in our knowledge regarding the causes of birth defects, say the authors.

For the causes that are known, such as smoking or diabetes, assigning causation in individual cases remains challenging. Nevertheless, they say the ongoing impact of these exposures on fetal development "highlights the urgency and benefits of population based preventive interventions."

For the causes that are still unknown, they say better strategies are needed, such as greater collaboration between researchers, clinicians, and epidemiologists; and better ways to objectively measure fetal exposures.
-end-


BMJ

Related Birth Defects Articles:

Causes of major birth defects still largely unknown
Causes of major birth defects remain largely unknown, say US researchers in The BMJ today, who were able to establish a definite cause in only one in every five infants they studied.
CRKL in 22q11.2; a key gene that contributes to common birth defects
The research findings imply that patients with genitourinary birth defects due to 22q11.2 changes in gene dosage should also be evaluated for other potential birth defects seen in patients with DiGeorge syndrome that would affect the patient's future health.
Virus study targets infection linked to birth defects
Fresh insights into how a common virus replicates could pave the way for new therapies to stop its spread.
New insight into leading viral cause of congenital birth defects
A study led by Cardiff University has revealed why CMV -- a virus responsible for 1,000 birth defects a year in the UK -- is so adept at evading the immune system.
New data show heightened risk of birth defects with antidepressants
A new Université de Montréal study in the British Medical Journal reveals that antidepressants prescribed to pregnant women could increase the chance of having a baby with birth defects.
Link found between epilepsy drugs and birth defects
A joint study conducted by researchers from the universities of Liverpool and Manchester has found a link between birth defects and certain types of epilepsy medication.
Could assisted reproduction reduce birth defects for older women?
Babies born to women aged 40 and over from assisted reproduction have fewer birth defects compared with those from women who conceive naturally at the same age, according to new research from the University of Adelaide.
Scientists uncover new facets of Zika-related birth defects
In a study that could one day help eliminate the tragic birth defects caused by Zika virus, scientists from the Florida campus of The Scripps Research Institute (TSRI) have elucidated how the virus attacks the brains of newborns, information that could accelerate the development of treatments.
Study examines use of antipsychotics early in pregnancy, risk of birth defects
A study of 1.3 million pregnant women suggests antipsychotic medication early in pregnancy was not associated with a meaningful increase in the risk of birth defects when other mitigating factors were considered, although the medication risperidone needs further research, according to a study published online by JAMA Psychiatry.
World first discovery gets to the heart of birth defects
For the first time, scientists believe they've discovered a cause of multiple types of birth defects triggered by environmental stresses.

Related Birth Defects Reading:

Best Science Podcasts 2019

We have hand picked the best science podcasts for 2019. Sit back and enjoy new science podcasts updated daily from your favorite science news services and scientists.
Now Playing: TED Radio Hour

Moving Forward
When the life you've built slips out of your grasp, you're often told it's best to move on. But is that true? Instead of forgetting the past, TED speakers describe how we can move forward with it. Guests include writers Nora McInerny and Suleika Jaouad, and human rights advocate Lindy Lou Isonhood.
Now Playing: Science for the People

#527 Honey I CRISPR'd the Kids
This week we're coming to you from Awesome Con in Washington, D.C. There, host Bethany Brookshire led a panel of three amazing guests to talk about the promise and perils of CRISPR, and what happens now that CRISPR babies have (maybe?) been born. Featuring science writer Tina Saey, molecular biologist Anne Simon, and bioethicist Alan Regenberg. A Nobel Prize winner argues banning CRISPR babies won’t work Geneticists push for a 5-year global ban on gene-edited babies A CRISPR spin-off causes unintended typos in DNA News of the first gene-edited babies ignited a firestorm The researcher who created CRISPR twins defends...