Pre-marriage, pre-pregnancy, prenatal and three-stage eugenics health care examination should not be omitted, which can greatly reduce the risk of genetic diseases.
Nowadays, young people have long been out of the "appropriate" system when talking about feelings. As long as it is two of a kind, you don't need to care about each other's background. However, marriage is not only a matter for two people, but also a matter for two families. If nothing else, just talk about the birth of the family. From the genetic point of view, the direct blood relatives of husband and wife, uncles and aunts, their brothers and sisters, and even the children born to brothers and sisters are closely related to the children of the young couple.
The key to mastering genetic diseases lies in detailed genealogy. A complete family tree, preferably covering at least three generations of family members of both husband and wife, including age, health status, illness, etc.; And whether family members have miscarried or died prematurely when giving birth. The health status of relatives can be used as a reference for diagnosing genetic diseases, analyzing genetic risks and preventing genetic diseases.
Pre-marital health examination, combing the family health map
"One thousand dollars is hard to buy. Before lovers become lovers, it is best to have a premarital health check-up in order to understand their health status and screen out genetic diseases that may be hidden in the family. This is the most substantial commitment and guarantee to each other. If problems are found, medical solutions can be sought with the help of genetic counseling.
Pre-marital health check-up, the contents of the health check-up list include basic personal information, living habits, special medical history, physical and mental status, examination of various organs and systems, as well as genealogy and family history, etc.
After analyzing the health status of individuals and families, it is suggested to carry out other examinations according to personal conditions; For example, genetic disease examination, infectious disease examination and mental illness examination. After the health examination report comes out, the hospital will provide suggestions or refer it to various departments for corresponding medical treatment as needed. Through premarital health examination and premarital genetic counseling, we can comprehensively examine the family health map; Sometimes, it is inevitable that there are cruel realities that must be faced.
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Once a couple who talked about marriage came to my clinic for genetic counseling, and the results showed that the woman had recessive genetic disease. The reason why the couple sought medical treatment was that the woman's brother had mental retardation, and the man's parents were worried that it was caused by genetic factors, so the young couple came to consult. Because the woman's uncle is also mentally retarded, I drew the genealogy of the woman's family and the health status of her relatives, and concluded that if it is a genetic factor, it belongs to X-linked inheritance (maternal inheritance to boys), that is, the mother passes it on to the next generation, and only the son will get sick.
Later, the woman's younger brother was invited to the clinic to confirm that the inference of sexual partner was established, and the woman's mother had recessive genes that led to mental retardation. There are no patients with the same disease in the woman's father's family. Therefore, it can be inferred that the woman has half of the same recessive genes as the mother. If the daughter also has a cause, and she is pregnant with a boy after marriage, there will be a 50% chance of mental retardation. It is best to have a genetic test before pregnancy (whether it is the cause of chromosome fragility).
This premarital consultation found that the woman had doubts about genetic diseases. Although the result of the woman's family is regrettable, thanks to the development of reproductive medicine, there are still ways to avoid bad inheritance. First of all, genetic tests can be used to confirm whether the woman is a carrier. If she is a carrier, the artificial reproduction law should be applied. In the future, if she wants to get pregnant, she can use IVF embryo implantation to choose preimplantation genetic diagnosis technology (PGD), select normal chromosomes and embryos without family genetic factors, and then implant them into the uterus to give birth to healthy babies.
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Giving priority to prevention can avoid regret, and it is also the best scheme to achieve prenatal and postnatal care. In addition to premarital health check-ups, counseling is also needed before pregnancy. There are several common situations in outpatient consultation, including experiences of pregnancy, abortion or stillbirth; Or genetic diseases were discovered after the birth of previous children; Some members also know that there are suspected genetic diseases in the family after marriage or before pregnancy.