Genetic Testing for Baby

By ⁠Dr. Brandon Colby MD, an expert in genetic testing and personalized medicine.

As parents, you want the best for your children. You want them to be healthy and successful in life. Everything you do as you raise them is meant to help them reach those two goals. 

Most parents know that taking their baby to the doctor, making healthy foods available, and protecting them from dangers can lead to health, wellness, and a good life. What many parents don’t know is that they can do more in protecting their children through genetic testing. 

Genetic Testing for Baby: Disease Prevention for a Lifetime

Genetic testing can be performed from before conception to adulthood. Knowing the risks of rare diseases early in life can help a baby avoid them. 

The following are different types of ⁠genetic testing for diseases that can be identified before and after conception. 

Carrier Screening (Preconception Genetic Screening)

⁠Carrier screening, which is also known as preconception genetic screening, can be performed before two people decide to have a baby. With a comprehensive DNA test, such as with whole-genome sequencing, risks for genetic diseases can be identified. This not only helps people gain insight into what they may suffer from later in life but also the genetic problems they may pass on to their future children. 

Preimplantation Genetic Screening 

Preimplantation genetic screening (PGS) is also called embryo screening. This screening involves genetic screening with in vitro fertilization (IVF). IVF involves fertilizing the egg outside of the womb. When the embryos are five days old, PGS is performed. 

This procedure removes one cell from each of the embryos. It is then screened for debilitating or life-threatening diseases. By knowing which embryos have a higher risk of disease, the doctor can only implant the ones that do not have that risk. 

Prenatal Screening

Prenatal screening (⁠genetic testing during pregnancy) involves performing ⁠genetic testing during pregnancy on a developing fetus. The goal is to identify the risk the fetus may suffer from Down syndrome or Tay-Sachs disease. The screening is performed with a procedure called amniocentesis or chorionic villus sampling (CVS). It consists of inserting a needle through the pregnant woman’s abdomen into the womb. The needle extracts cells from the fetus. The cells are tested to reveal information about their genetic makeup. 

Unfortunately, the above procedures carry risks such as miscarriage. This is an important consideration when parents decide if they would like prenatal screening. 

New technology has made it possible to perform noninvasive genetic testing on a fetus through a blood draw. The mother’s blood is drawn, purified, and then used to determine the fetus’s genetic makeup. 

Newborn Genetic Testing

Sudden Infant Death Syndrome (SIDS) is the leading cause of death for infants. Genetic testing can identify the risk of SIDS, which means preventative measures can be deployed. For example, infants who die of SIDS have a disease called long QT syndrome. Genetic screening can identify genetic variants that can cause long QT syndrome - a condition that affects heartbeat rhythm (arrhythmia). With this knowledge, a doctor can prescribe a beta-blocker which has been shown to decrease the risk of death from long QT syndrome. 

⁠Genetic Testing for SIDS - Analyze your baby’s DNA. 

SIDS isn’t the only risk genetic testing can identify. Genetic testing for a baby can identify risks for:

• Autism
• Cancer
• Heart Disease
• Learn Disabilities
• Multiple Sclerosis
• Attention-Deficit/Hyperactivity Disorder (ADHD)
• Diabetes
• Obesity
• …and much more. 

Genetic testing for a baby can provide insight into the risk of hundreds (even thousands) of diseases. The test results can be reviewed by a genetic counselor and health care provider who can then create a plan for prevention. 

Genetic Testing for Autism

Studies have found that genetics is the main cause of autism. Early diagnosis and intervention significantly decrease autism symptoms, which improves the child’s quality of life into adulthood. 

About 25% of children diagnosed with autism by age 3 improve and most of them are ready for school by age 7. The remaining 75 percent do not improve and may need special care throughout their life. As you can see, children diagnosed before age 3 have the best outcomes with their condition, which is why it’s imperative that it is identified and treated early.

⁠Genetic testing for autism can identify risk as soon as birth. This way, health care professionals can quickly intervene with medications and therapies during development to mitigate the long-term effects. 

Genetic Testing for Down Syndrome

⁠Genetic testing for Down syndrome can only be performed through a blood test during pregnancy. Maternal blood can identify whether the fetus may have the extra chromosome causing Down syndrome or Trisomy 21.

It is important to understand that the results do not mean that the baby has Down syndrome - it simply indicates there is a high risk of it. Diagnostic testing after birth can confirm whether the child has the chromosomal disorder. 

How to Perform Genetic Testing on a Baby

Genetic testing on a baby can be performed easily with a cheek swab in the comfort of your home. Babies do not produce enough saliva to fill a test tube that is required by many DNA testing companies, which is why it is best to find a DNA test that offers cheek swabs for genetic testing. 

Sequencing.com’s ⁠Ultimate Genome Sequencing kit includes a stick with cotton at the end of it. This can be inserted into the baby’s mouth and the cotton just needs to rub against the inside of the cheek to obtain a DNA sample. The DNA sample can be obtained from a baby as young as one day old. 

Ultimate Genome Sequencing (⁠whole-genome sequencing) tests 100% of the genome. It is clinical grade and tests for over 5,000 diseases and traits. This is the most comprehensive genetic testing available and can be used for an entire lifetime. 

After submitting the DNA sample, you will receive a notification when your results are ready for review. We recommend reaching out to the genetic counselor we have available with questions and concerns. You can also share the results with your baby’s pediatrician, as it can help shed light on any concerns as your baby grows up. 

Genetic Disorders in Children

⁠Genetic disorders in children affect their development and livelihood. Identifying an inherited disorder early can decrease the severity of symptoms, helping children live a much healthier and successful life. One way to know the risk that a child may have a genetic disease is through genetic testing. 

⁠Genetic testing for diseases can identify gene mutations in either parent that could be passed on to a child. It’s also possible to DNA test a baby soon after birth, as you can learn about in How Soon Can You DNA Test a Baby After Birth. 

Protecting Your Baby Now and Forever

Most parents shy away from genetic testing for their baby because they fear the knowledge that may come from it. Instead of perceiving genetic testing as something that can bring bad news, try to look at it as a tool to help your baby stay healthy and happy in life. Knowing about elevated risks of rare diseases can set you, your child, and your doctor on a path of prevention vs. on a path of treatment and recovery later in life. 

About The Author

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 Sequencing.com 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).