Expert Reviewed By: Dr. Brandon Colby MD
Small for gestational age (SGA) is a condition where a baby is born with a birth weight or length that is significantly below the average for their gestational age. While many children born SGA catch up in growth during their first few years, some continue to experience growth issues throughout their lives. Understanding, diagnosing, and managing SGA can be challenging, but recent advances in genetic testing have shed light on this complex condition.
Understanding Small for Gestational Age
SGA is often associated with various health issues, such as increased risk for obesity, type 2 diabetes, and cardiovascular diseases later in life. In some cases, SGA can be attributed to environmental factors, such as maternal smoking or poor nutrition during pregnancy. However, in many instances, the cause of SGA remains unknown. Recent studies have focused on the role of genetic factors in the development of SGA and the potential benefits of growth hormone treatment.[4]
Diagnosing Small for Gestational Age
Diagnosing SGA typically involves comparing a child's birth weight or length to established growth charts. However, identifying the underlying cause of SGA can be more complicated. Genetic testing has emerged as a powerful tool for uncovering the root causes of SGA and guiding appropriate treatment strategies.
Monogenic Growth Failure in Idiopathic Short Stature and Familial Short Stature
One study investigated monogenic growth failure in patients with idiopathic short stature (ISS) and familial short stature (FSS), both of which can be associated with SGA. The study analyzed the response of these patients to growth hormone therapy and found that those with monogenic growth failure showed a better response to treatment.[1] This finding highlights the importance of genetic testing in identifying the cause of growth failure and determining the most effective treatment options.
(Epi)genetic Causes in Syndromic Short Children Born Small for Gestational Age
Another study examined the presence of (epi)genetic causes in children born SGA and manifesting clinically undiagnosed syndromic short stature. The researchers found that (epi)genetic factors played a significant role in the development of SGA in these children, emphasizing the need for genetic testing in the diagnostic process.[2]
Targeted-Exome Sequencing and Whole-Exome Sequencing in Small for Gestational Age Infants
A study evaluating the genetic causes and diagnostic effectiveness of targeted-panel sequencing (TES) or whole-exome sequencing (WES) in SGA infants without a known cause found that these methods were effective in identifying the underlying genetic factors contributing to SGA. This information can be invaluable in guiding treatment strategies and improving outcomes for affected children.[3]
Using Genetic Testing for Small for Gestational Age Management
Genetic testing can play a crucial role in the management of SGA by providing insights into the underlying cause of the condition. This information can help healthcare providers develop personalized treatment plans, such as growth hormone therapy, that are tailored to the specific needs of each child. Additionally, understanding the genetic basis of SGA can help families make informed decisions about future pregnancies and provide valuable information for genetic counseling.
Benefits of Growth Hormone Treatment
For children with SGA caused by genetic factors, growth hormone treatment can be an effective option for promoting catch-up growth and improving long-term outcomes. Research has shown that children with monogenic growth failure respond particularly well to growth hormone therapy, highlighting the importance of genetic testing in guiding treatment decisions.[1]
In conclusion, genetic testing is an essential tool in understanding, diagnosing, and managing small for gestational age. By identifying the underlying genetic factors contributing to SGA, healthcare providers can develop personalized treatment plans and improve outcomes for affected children. As our understanding of the genetic basis of SGA continues to grow, so too will the potential for more effective and targeted therapies.
About The Expert Reviewer
Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of and the author of Outsmart Your Genes.
Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC)