The newlyweds are in good health.

"Our husband and wife are very healthy, and the baby born must be very healthy!" Are you sure? A newly married young couple, healthy, family members have no history of rare diseases. However, in order to understand the risk of giving birth to a child with a rare genetic disease, both sides decided to draw blood for screening for various diseases. Unexpectedly, the result surprised them all!

Huang Pinjia, a genetic counselor, said that after genetic screening, the newlyweds found that the boy had recessive genetic diseases of Pendely's syndrome and spinal muscular dystrophy, while the woman was a carrier of recessive diseases with congenital insensitivity to pain and anhidrosis. Fortunately, both men and women have different mutation positions and are not carriers of the same disease, so the risk of the next generation is also low, which makes them breathe a sigh of relief!

There are few children at home, and both children and parents are in great pain and have great care pressure.

Everyone expects perfection, but no one is absolutely perfect. Even if it looks healthy, it may be the cause of recessive genetic disease. The pea genetic experiment in biology class as a child tells us that human genes can be divided into dominant genes and recessive genes. Even if both husband and wife are healthy in appearance, as long as they each carry a recessive gene, the next generation has a 1/4 chance of inheriting a certain disease.

Huang Pinjia said that recessive genes have a wide range of influences, covering the brain, nervous system, respiratory system, hearing, endocrine and appearance. Rare diseases that people often hear, such as thalassemia, spinal muscular dystrophy, phenylketonuria and maple syrup diabetes, are recessive genetic diseases. As long as there is such a child at home, it is not only difficult for the child and parents, but also a huge care pressure for parents and the whole family.

Genetic testing is helpful, and recessive genetic diseases have long been known.

However, due to the progress of modern biomedical technology, there are many screening tools for diseases. No matter before the husband and wife get married or before the woman gets pregnant, we can detect a variety of recessive genetic diseases caused by single gene abnormalities at one time through blood drawing, and confirm whether we are carriers of recessive genetic diseases and whether our children are high-risk groups of some recessive diseases.