Taipei -- In recent years, sudden infant death has been ranked as one of the ten leading causes of infant death. How to prevent sudden infant death has become a pressing issue for parents. Genetic testing, which has continued to evolve over the years, might be of help. A latest Dutch study discovered that cardiac arrhythmia that causes sudden infant death is likely to be associated with gene mutation. As symptoms of congenital metabolic disorders during the infant stage are often less obvious, genetic testing can help parents monitor their newborns’ health in advance. With the advancement in medical science, next-generation sequencing (NGS), along with genetic testing on newborns and drug allergy, can be used to test as many as 208 genes and 200 types of diseases with a simple blood draw.
Congenital cardiac arrhythmia is associated with gene mutation and difficult to be detected through fetal heart scan
Studies from Europe found that 10 percent of sudden infant death cases are associated with congenital cardiac arrhythmia. Many cases showed that mutation in genes causes cardiac channelopathies, which in turn causes cardiac arrhythmia and leads to sudden infant death. A latest Dutch study, published in the premier journal in the field of forensic genetics Forensic Science International: Genetics in February, conducted genetic testing for 102 sudden infant death cases in the Netherlands, and found that 58.8 percent of the cases demonstrated mutation in genes that causes cardiac arrhythmia. Three of the genes were discovered for the first time and seven genes were confirmed to be associated with the diseases for the first time in the study.
Taiwan’s Health Promotion Administration statistics showed that 6‰ to 10‰ of newborns in Taiwan have congenital heart disease, equaling to 2,000 babies born with heart defects every year. Director of Dianthus Pediatric Clinic Jun-Ho Wu (吳俊厚) said currently fetal heart scan and neonatal electrocardiogram can detect some congenital arrhythmias. However, each test has its limitation and minor heart defect might not be spotted immediately. Genetic testing for newborns will help parents discover such anomaly in the early stage and prevent heart palpitation or sudden death through medication or surgery.
Genetic testing enables early detection and intervention
Children with congenital heart defect now have a chance to live a normal life
Dr. Chia-Cheng Hung (洪加政), who received a doctoral degree from Graduate Institute of Medical Genomics and Proteomics of National Taiwan University, said the Dutch study advised that people who have such risks to do genetic testing. For those whose other family members also have the same symptoms, it might indicate the illness is an inherited disease running in the family. In 2017, the American Heart Association (AHA), the American College of Cardiology (ACC) and the Heart Rhythm Society (HRS) suggested in a report that arrhythmia patients could consider having genetic testing and use genotyping to identify the appropriate treatment methods.
Dr. Wu added that not all newborns with heart defects need to be treated. For those with mild symptoms, regular follow-up would suffice. Some others, however, have more obvious symptoms or more complex and severe heart problems and are advised to have treatment after being assessed. In recent years, there is advancement in diagnosis and surgery in Taiwan. Now infants with heart problems have a chance to live a normal life whether through medication, use of cardiac catheter or surgery.
A simple blood draw to test 208 genes, learn about allergic response to drugs and keep babies healthy
Dr. Wu pointed out that currently a number of allergy-related genes have been identified. For those with the RYR1 gene and the CACNA1S gene, they might be prone to have allergic reaction to isoflurane, a common general anesthetic used during surgery. The severe reaction might cause malignant hyperthermia, or even lead to death. Currently, doctors in Taiwan are required to conduct certain genetic testing before prescribing drugs that might trigger allergic reaction. However, most genetic testing for drug response is not regularly required and has to be referred to laboratory or other medical facilities. Parents will have a better chance of preventing relevant complications if they could learn about potential allergic response to certain drugs of their newborns.
Dr. Hung also added that currently most genetic testing for newborns can only test hearing impairment and central nervous system disorders. Now, there are companies that combine NGS technology and genetic testing for newborns and allergic drug reaction through blood samples to test as many as 208 genes, 200 diseases and learn about reaction to medicine in advance. The tests will prevent allergic drug reaction and provide as many as 12 categories of genetic testing for diseases, allowing parents to learn more about the health of their babies. Genetic testing for newborns is unlike regular health checks in that you only need to do it once. Learn about the health risks for your children in advance will make your babies healthy and help parents become better prepared.
Newborn genetic testing Q&A
Due to social and economic changes, people now tend to marry and have children later than previous generations. Ministry of the Interior statistics showed that 25.14 percent of pregnant women were over 35 years old, and faced issues such as decrease in egg quality for older mothers, chromosome mutation, etc. The health of babies is of paramount importance for first-time parents. With the variety of genetic testing products on the market, do you know what genetic testing is? What should you be paying extra attention to? Dr. Wu has the following suggestions for parents:
Q1: Does my baby need newborn genetic testing?
A: It’s just like risk management. Doctors cannot predict whether a newborn has inherited diseases. When in doubt, just do a genetic testing. Your baby only need to do it once and the test will make you more reassured.
Q2: Does my child need newborn genetic testing even if I’ve already have my antenatal checks?
A: Antenatal checks look at the growth of your baby and do not overlap with what are done during newborn genetic testing. We suggest you to do both if you have concerns.
Q3: What to consider when choosing genetic testing products?
A: First of all, choose the product you can afford. Next, a couple of indicators to look at when choosing the company to have the tests: comprehensive genetic database; leading research and development; comprehensive tests; follow-up counseling after reports are provided; companies accredited with ISO 17025 and have the entire process done in Taiwan; companies that are regularly accredited through a third party on its services to make the process more transparent, ensure strict quality control is adhered to and lower human error and negligence.