Causes of major birth defects still largely unknown

May 30, 2017, British Medical Journal

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 ."

And they warn that, "unless progress is made in identifying and preventing the root causes of 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 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 (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 "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.

Explore further: Risk of death due to birth defects higher if baby covered by Medicaid

More information: Etiology and clinical presentation of birth defects: population based study, The BMJ, www.bmj.com/content/357/bmj.j2249

Related Stories

Risk of death due to birth defects higher if baby covered by Medicaid

January 26, 2017
(HealthDay)—Severe birth defects cause about one in every five infant deaths in the United States. Now, new research finds that the odds for one of these tragic events rise if a newborn is covered by Medicaid rather than ...

Birth asphyxia tied to fewer than 10 percent of cerebral palsy cases

September 4, 2015
(HealthDay)—Cerebral palsy is likely due to multiple prenatal factors, with the contribution of birth defects exceeding that of other major factors, according to a review published in the Sept. 3 issue of the New England ...

Birth defects jump twentyfold in Zika-hit mothers: study

March 3, 2017
Pregnant women infected with the Zika virus last year were 20 times more likely to bear children with birth defects than those who gave birth prior to the epidemic, US health officials said Thursday.

Florida reports 3 Zika cases in Miami as CDC says virus increased birth defects

March 3, 2017
On the heels of a new study from the Centers for Disease Control and Prevention showing that Zika has increased the rate of birth defects in the United States, Florida health officials on Thursday reported three more cases ...

Preeclampsia associated with increased risk of heart defects in infants

October 20, 2015
An analysis of more than 1.9 million mother and infant pairs finds that preeclampsia was significantly associated with noncritical heart defects in offspring, and preeclampsia with onset before 34 weeks was associated with ...

Recommended for you

Scientists make significant discovery in the fight against drug-resistant tuberculosis

September 20, 2018
A team of scientists have identified a naturally occurring antibiotic that may help in the fight against drug-resistant Tuberculosis.

Anti-cancer drugs may hold key to overcoming antimalarial drug resistance

September 20, 2018
Scientists have found a way to boost the efficacy of the world's most powerful antimalarial drug with the help of chemotherapy medicines, according to new research published in the journal Nature Communications.

Researchers discover influenza virus doesn't replicate equally in all cells

September 19, 2018
The seasonal flu is caused by different subtypes of Influenza A virus and typically leads to the death of half a million people each year. In order to better understand this virus and how it spreads, University of Minnesota ...

Flu season forecasts could be more accurate with access to health care companies' data

September 19, 2018
In an era when for-profit companies collect a wealth of data about us, new research from The University of Texas at Austin shows that data collected by health care companies could—if made available to researchers and public ...

Drugs that stop mosquitoes catching malaria could help eradicate the disease

September 18, 2018
Researchers have identified compounds that could prevent malaria parasites from being able to infect mosquitoes, halting the spread of disease.

Vaccine opt-outs dropped slightly when California added more hurdles

September 18, 2018
In response to spiking rates of parents opting their children out of vaccinations that are required to enroll in school—and just before a huge outbreak of measles at Disneyland in 2014—California passed AB-2109. The law ...

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.