Even with proper nutrition and prenatal check-ups, some babies are born with unfortunate illnesses parents are ill-equipped to deal with. No one wants their child to suffer from any disease, but early detection will help ease the burden for both the child and the parents.
What are the common genetic disorders?
1. Down Syndrome
Down syndrome is characterized by weak muscle tone, intellectual disability and a facial appearance common among those with this condition. Some babies with Down syndrome might also have heart defects. It can be detected during pregnancy using the multiple marker test at 15 to 20 weeks of gestation.
2. Muscular Dystrophy
This is a group of diseases characterized by the progressive weakening and loss of muscle mass. The body cannot form enough proteins to make muscle. There is no known cure, but the symptoms are managed through massage and physical therapy.
3. Thalassaemia
This is the most common single gene disorder in Singapore. In this condition, the body creates an abnormal form of hemoglobin, which is made up of two proteins responsible for carrying oxygen. The most common symptom is anemia.
4. Congenital Heart Disease
This a term for a group of heart defects and abnormality during the development of the organ in the womb. This can be determined through physical examinations and tests like heart scans, electrocardiograph and chest X-ray on the baby.
5. Haemophilia
Children with this disorder have slow blood clotting processes so they experience continuous bleeding. This is caused by missing or defective clotting proteins called factors. A blood test can be done to determine if the child has haemophilia. Bleeding episodes and wounds should be treated to prevent infection and other diseases.
6. Autistic Spectrum Disorder
The symptoms are usually seen in the baby’s first 18 months. The symptoms include: social and communication impairment, repetitive activities, intolerance to some stimuli and developmental delay.
How are genetic disorders tested?
Most genetic disorders are detected only after the baby is born. A few single-gene disorders however can be detected during pregnancy to help you prepare. Any of the following tests may be performed: fetal blood sampling from the umbilical cord at 18 months of pregnancy, chorionic villus sampling from the placenta at 10 weeks, amniocentesis at 16 weeks, noninvasive prenatal test on the chromosomes at 10 weeks, and multiple marker test at 15 weeks.
What is newborn screening?
Newborn screening is recommended as an early detection and prevention step. A blood test is performed to determine the baby’s health. You can also ask for supplemental screening especially if you have a family history of some diseases. You should also have your baby checked regularly not just for genetic disorders, but other problems such as hearing defects.
Can these diseases be cured?
Most genetic diseases cannot be cured but treated through early prevention, intervention and continuous treatment that will help the child live a less painful life.
