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Giving birth to a baby is a long journey. Even if the pregnancy is successful, the soon-to-be parents have to worry about various changes and risks in the pregnancy process, such as genetic diseases. In medicine, a genetic disease refers to a disease caused by abnormalities in the genetic material of germ cells or fertilized eggs. The mutated gene causes the disease to be passed on from generation to generation. Most people think of the more commonly heard thalassemia, Down syndrome, and G6PD deficiency (commonly known as favism). Some urban diseases may also be passed on to the next generation. For example, the childhood asthma and eczema mentioned in this column are mostly related to family inheritance, and the chances of children getting the disease are higher than ordinary people.<\/p>\n\n\n\n
Some diseases will not develop until the patient grows up, including diabetes, high blood pressure and high blood fat, which are all related to genes. Take diabetes as an example, there are about 537 million diabetics in the world. In Hong Kong alone, one out of every 10 adults suffers from diabetes, and about 90% of them have type 2 diabetes, which is mainly caused by congenital genetic factors, acquired obesity, poor eating habits, lack of exercise and other factors. If parents have type 2 diabetes, the risk of their children's disease is also greatly increased.<\/p>\n\n\n\n
In fact, genetic diseases are not limited to congenital diseases, but can also be non-rare diseases, plus acquired environmental factors to induce lesions. Familial hereditary cancer is common, and close relatives have a common cancer gene, and the risk of cancer is also higher. A more familiar example is the Hollywood actress Angelina Jolie. Because her grandmother and mother both died of gynecological cancer, she was found to be a carrier of the BRCA1 gene mutation after undergoing genetic testing, and her risk of breast cancer and ovarian cancer is extremely high.<\/p>\n\n\n\n
Therefore, if close relatives have relevant medical history, family members should be vigilant, and communicate with family doctors in detail and arrange follow-up, such as whether to undergo appropriate physical examination (such as cancer genetic risk test), pre-pregnancy examination before planning to have children, etc. In addition, umbilical cord blood is drawn for newborn babies for screening, which will help early screening of common genetic diseases including favism, growth hormone deficiency and congenital hypothyroidism, so that more appropriate care arrangements can be made.<\/p>\n\n\n\n
Readers should also be aware that not every family with a genetic disease has a precedent. For example, the parents of patients with thalassemia, Down syndrome, and achondroplasia (commonly known as dwarfism), or even the entire family, have never had the disease or related symptoms, but their child has become the first case in the family. This situation is either caused by a mutation in the genetic material during the genetic process, or the parents are recessive patients with genetic diseases.<\/p>\n\n\n\n
In any case, although genetic factors do increase the health risks of their children, parents should not be too negative, and should actively start with their children's daily habits to reduce the risk of disease. For example, if the family has a history of diabetes, parents should train their children to develop a low-sugar diet and regular exercise habits from an early age to help control blood sugar levels and prevent them from exceeding the standard.<\/p>\n\n\n\n
Dr. Yongbai Su, Fellow of the Royal College of General Practitioners<\/p>\n\n\n\n