Genetic Screening May Be Just the Answer Scientists Have Been Hoping For.

 

Sudden Infant Death Syndrome “SIDS” is tragic and devastating for any parent. Parents are left wondering if they could have done anything to prevent their child’s death. Yet the sad reality is, there is very little anyone could have done to prevent the child’s death. That is until now.

February-ChartSpan-Social-Media-Creative-Patrick-Sids-and-Genetics-FacebookSIDS is defined by medical professionals as the sudden, unexpected death of an infant less than one year of age that is otherwise healthy. According to the Center for Disease Control and Prevention, over 4000 infants die suddenly and unexpectedly each year in the United States. While medical research into SIDS has identified certain risk factors that can lead to a SIDS death, the majority of deaths go unexplained.

 

Currently identified SIDS risk factors:

– Soft bedding and sleeping on baby’s stomach, which can increase the risk of suffocation.

– Baby getting wedged between the side rails of cribs, bedding, or wall which can cause strangulation.

– Bed sharing  (an individual accidentally rolls over on top of the infant).

– Low birth weight.

– Inadequate prenatal care.

– Maternal smoking during pregnancy.

– Anemia.

– Male sex (50% higher risk than females).

– Soft bedding and sleeping on baby’s stomach, which can increase the risk of suffocation.

– Baby getting wedged between the side rails of cribs, bedding, or wall which can cause strangulation.

But the list doesn’t represent all risk factors. Researchers now believe a child’s genetics may also be a factor. hanks to the decoding of the human genome in 2003, medical researchers are able to screen for specific genetic mutations in infants and determine if the child is at risk for a SIDS related death.

Medical researchers warn that SIDS is far too complex and research into this area is far too new to be able to identify a simple screening test that will determine if your infant is at risk for SIDS. They do know that there are certain identifiable defective genes that drastically increase the risk for SIDS. Medical researchers also warn that it is not only the defective gene but also the infant’s environment that will ultimately determine whether the child will succumb to SIDS.

The National Institute of Health is spending $25 million on a five year research project to further identify the impact newborn genetic screening can have on illnesses such as SIDS. What we know so far is that only 1% of the human genome is responsible for making proteins or “exomes.” It is the mutated exome that can cause disease and illness. The cost of sequencing that 1% has dropped to under $1000, which is now making it practical for pediatricians to screen all infants at birth to determine the presence or absence of genetic risk factors that could lead to premature death and other illnesses in newborns. The NIH is looking at various ways to efficiently screen and evaluate newborn genomes to identify new links to illness and death in infants.

Researchers also stress that there are numerous possible gene mutations in all parts of the body that could increase a newborn’s risk for SIDS.  Each year scientists are discovering more genetic defects that play a role in SIDS such as: immune system defects which can predispose infants to infections, metabolic defects which prevent normal function, neurotransmitters in the brain that lead to hypoventilation, and cardiac arrhythmias.

At this point you may be more confused than when you started reading this article. To be quite honest, that is how most of the medical researchers are feeling right now as well. The more they discover, the more questions arise.

What medical researchers are sure of is  they are continuing to find genetic mutations in newborn genomes that have a direct or indirect link to death within the first year of life. This information will eventually lead to better screening tools and treatments to help decrease the over 4000 infants who die each year in the United States.

With the costs of genetic screening dropping exponentially each year, many parents and numerous medical providers are requesting full genetic screening of newborns shortly after birth, especially if another infant in the family has died from SIDS. This early screening and intervention is beginning to save lives.  While the science of genetic mutations and SIDS is still in the very early stages, it has the potential to drastically reduce the 4,000 SIDS related deaths which occur each year in the United States.

Patrick-white-150x150-circleAbout the Author: Patrick Carter is an 18 year medical provider, administrator and university professor with extensive national and international experience. He served as Program Director for East Carolina University’s Physician Assistant Program and a Physician Assistant at Vidant Duplin Hospital.

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