Raising a healthy child to adulthood is of the utmost priority to parents looking to start a family. Getting preconception genetic screening is a vital step towards achieving that goal. By getting tested, parents who are carriers of genetic diseases can prevent passing on these life-threatening conditions to their children.
Spinal Muscular Atrophy (SMA) is a genetic disease affecting 1 in 10,000 live births with a carrier frequency of 1 in 50. Most carriers display no symptoms. Therefore, it is vital that couples learn more about the disease and take the necessary steps toward screening and prevention.
Able to search for more than 600 recessive genes and identify as many as 200 genetic disorders with up to 90% detection rate, Preconception Genetic Screening is an application of Precision Medicine that is a vital family planning tool that helps prospective parents make informed decisions about their future.
Spinal Muscular Atrophy or SMA is a severe neuromuscular disease which degenerates the neurons in the spinal cord. This leads to extreme muscle weakness and paralysis. After cystic fibrosis, SMA is the second most common recessive disorder found in infants. The condition is passed down to infants through genetics.
Most infants affected with SMA do not display any unusual symptoms after birth. Symptoms usually surface around three months of age when the baby begins to display symptoms of the “floppy child” syndrome, meaning that the infant will not be able to move, cough or breathe normally. This condition then leads to chest infections and respiratory failure. In most cases, the child dies during the first year of life. Other symptoms of SMA include:
Here are the three types of SMA:
SMA affects all populations regardless of ethnicity or race. Most carriers of SMA are silent carriers; they do not display any unusual symptoms and have no family history of SMA. However, there is a 25 percent chance that a child born from carrier parents will be affected with the disease. Therefore, SMA carrier testing is highly recommended. Getting tested before pregnancy or during early pregnancy can help couples make informed choices going forward.
The carrier test requires only a tiny sample of blood from the patient. The test result is returned within the week. You can ask for the carrier test from your OB/GYN. If you have further questions, you might want to meet and consult with genetic counselors or geneticists at the hospital.
If the test reveals that you or your partner are carriers for SMA, discuss with your doctor how to proceed. Being carriers for SMA does not necessarily mean an end to your dream of having children. Here are the options your doctor might present you with:
For each option, the doctor will provide you with information on what you should expect.
In the current environment, one in 550 pregnancies carries a risk of severe genetic disorders, with as many as 80% of all the babies born with genetic disorders having no known family history of their condition. While genetic disorders have always been an unknown risk, recent breakthroughs mean that this no longer needs to be the case. Preconception genetic screening delivers a detection rate of up to 90% in identifying up to 200 genetic disorders in over 600 recessive genes carried unknowingly by couples planning to start a family.
Preconception Genetic Screening is now available at Samitivej Sukhumvit. To find out more, click here>>>
The First Class Honors M.D. ,Faculty of Medicine Ramathibodi Hospital, Mahidol University. Faculty of Medicine Ramathibodi Hospital, Mahidol University , 2000