Both husbands and wives are healthy and will have children with genetic diseases!Intersection

Conception is a process of intersection, with joy, expectations, and excitement; there are also confusion, worry, and anxiety.Here, there is a "golden key" to provide solutions for your auxiliary reproductive problems.

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Mr. Zhang and Ms. Wang are a young couple. They are very smooth from acquaintance, falling in love to marriage and having children. The process of inspection is also green. They have ushered in the crystallization of love in a logical manner -a cute baby.When the baby was 1 year old, Ms. Wang saw that the children of the same age slowly learned to walk. Her baby still only sat, could not stand alone, and could not walk.What is the reason?Clear diagnosis: spinal muscle atrophy!As a result, the couple took the children to the pediatrics to conduct a systematic inspection.After completing a series of examinations such as physical examination and blood drawing, and muscle chart, the doctor told them that the baby is likely to be a child with SMA.Maybe you feel strange about the term "spinal muscle atrophy (SMA)", but maybe you will remember the winter of 2021, causing heated discussion and savvy medicine.It has been reduced to 33,000/support, which has re -ignited the hope of many SMA patients and families.In order to clarify the genetic diagnosis, the husband and wife took blood to conduct genetic testing.While waiting for the genetic report, they consulted the doctors of SMA, and checked a lot of information on the Internet, and learned that the following information: -What is SMA?The full name of SMA is spinal muscle atrophy. It is the most common neuromuscular system disease in children. The main clinical features are muscle weakness and muscle atrophy. There are about one of about 10,000 people.The number one killer ".-Why is SMA?SMA is a recessive genetic disease of ingot. If both husband and wife are carriers of SMN1 gene pathogenic variables, 25%of possibly children with SMA are theoretically.Because both husband and wife are carried by hidden pathogenic variations, I am not sick.Among the crowd, one person is carried on average, and one person is carried on average.The predicament of the next fertility: Will you get sick again?When the results of the genetic test came out, the doctor told them that both the couple carried a pathogenic variation of a SMN1 gene. Unfortunately, these two pathogenic variations were passed on to the children, and the child became a child with SMA.For the next fertility, 25%of theoretically, 25%may still be children, 50%may be the same carrier as the husband and wife, and 25%of the possibility is SMN1 normal genotype.They can choose to get pregnant naturally. When 3-5 months of pregnancy, they can detect the fetal genotypes through velvet biopsy or amniotic fluid puncture to detect the fetal genotypes. They can also choose to use the "three-generation test tube" technology to 5-7 days of in vitro cultivation.The size of the blastocyst is detected by chromosomes and SMN1 genotypes. The normal embryo is transplanted into the uterus, and the inheritance of SMA is blocked from the source, and a healthy baby has a healthy baby.The story is here, maybe we can answer the question ahead.Even if both husband and wife are healthy, if they are carried on the same genes, they may have a child with a genetic disease.In fact, more than 80%of genetic disease patients do not have a family history of genetic diseases.

Maybe someone asks if the probability of carrying hidden pathogenic variations is very low?In fact, it is not uncommon to carry SMA and deafness such as SMA and deafness.Some surveys show that only 437 genes are detected, and the average person will carry 2.8 gene pathogenic variations.When both husbands and wives carry hidden pathogenic variations on the same gene, the risk of children with genetic genetic diseases will be as high as 25%. These genetic patients usually do not have a good treatment method, bringing a heavy economic and economic and heavy economy and the family.Social psychological burden.

Gene screening: help health and good pregnancy!Genetic screening of genetic diseases is suitable for all pregnancy and early pregnancy couples, especially those with the next generation and people in high incidence of genetic diseases through auxiliary reproductive methods.The carrier screening is designed to discover families with high fertility risks of common hidden genetic diseases, so that timely and effective reproductive intervention can be obtained before pregnancy.For the auxiliary reproductive pregnancy population, we provide "comprehensive carrier screening" of 455 genes, involving 457 hidden genetic diseases.It is hoped that the preparation friends who choose and choose to screen for the carrier can be formulated by the "reproductive genetic outpatient clinic" before the testing and testing plan.Generally, both the husband and wife can be tested at the same time, or the woman can be tested first.For Mr. Zhang and Ms. Wang, it is unfortunate to have a child with a SMA, but it is a blessing to get clinical diagnosis and genetic diagnosis in time.No matter how they choose in the future, the "third -generation IVF" technology and prenatal diagnostic technology of a woman and baby will be their bright lights, good pregnancy, and accompany the whole process.New Project of the Ministry of Medicine

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Expert team



Teng Xiaoming teng xiaoming chief physician auxiliary reproductive medicine director and director ofrology

I have been engaged in reproductive medicine for nearly 30 years.Late clinical experience, proficient in assisted reproductive laboratory technology.Difficult disease treatment of supplementary reproductive therapy, such as repeated planting failures, no sperm disease, etc.He presided over more than 10 topics such as the National Key Fund.He is currently a executive member of the Reproductive Medicine Branch of the Chinese Medical Association, deputy chairman of the Reproductive Medicine and Ethics Branch of the Chinese Equipment Science Association, deputy chairman of the Chinese Society of Women’s Reproductive Medicine Professional Committee, and deputy chairman of the Cross -Strait Medical and Health Exchange Association., Chairman of the Shanghai Traditional Chinese and Western Medicine Society of Combination Medical Medical Professional Committee, deputy chairman of the Shanghai Medical Association Reproductive Medicine Professional Committee, and experts from the National Health and Health Commission auxiliary reproductive technology review experts.The editorial board of China Reproductive and contraception, editorial board of the "Chinese Men’s Science" magazine, and editorial board of "Reproductive Medicine" magazine.

Li Kunming Li Kunming

Chief Physician Assistance Reproductive Medicine Director Director Auxiliary Reproductive Center Clinical Leader

He has been engaged in clinical clinical work of obstetrics and has been focusing on infertility for more than 20 years. It has very rich clinical experience in infertility and repeated planting in the elderly women’s pregnancy, polycystic ovary syndrome, and endometriosis.In terms of artificial insemination, IVF and other supplementary reproductive technologies, medicine and surgical operations are experienced.

He is currently a member of the Professional Committee of the Chinese Medical Association, a member of the Female Reproductive Medicine Branch of the Chinese Society, a member of the Shanghai Medical Association Reproductive Medicine Branch, a member and secretary and secretary of the Shanghai Medical Association Reproductive Medicine Branch, and a member of the Shanghai Municipal Committee of the Shanghai Municipal Committee of the Shanghai Municipal Committee.Wait.

Ai Ai AI

Director of Chief Physicians Auxiliary Reproductive Medicine Director

Professional diagnosis and treatment of IVF, female reproductive endocrine, infertility.Has rich clinical experience and superb assisted reproductive surgery operation technology.It can be proficient in various individualized ovulation solutions for different patients, and has extensive experience in low ovarian reserves, repeated planting failures, elderly women, and polycystic ovary syndrome.

He currently serves as a member of the Shanghai Medical Association Reproductive Medicine Branch, a member of the Reproductive Medicine and Reproductive Ethics Branch of the China Eugenics Science Association, and a member of the Gynecology Branch of the Shanghai Medical Association.

The director of the three subjects of Fu Yonglun Fu Yonglun auxiliary reproductive medicine began to engage in diagnosis and treatment of infertility in 1994, clinical research and application of IVF related technologies.In 1998, he went to the United States for IVF technology.Internationally, the progesterone scheme of ovarian stimulation is designed for the first time, and on the basis of this solution, the late ovarian stimulation scheme that does not require exogenous pituitary regulators;The concept of argazole resistance "also designed multi -step strategies for polycystic ovary syndrome to induce ovulation.According to the relationship between the "seed-soil", the concepts of the quality of endometrium and embryo are advocated, and the fertility problems of thousands of repeated embryo transplant losers have been solved.

He is currently served as a member of the China Eugenics Association for pregnancy and the Gongsheng Professional Committee, a member of the Shanghai Medical Association’s Pregnancy Immunohistan Branch, and an executive member of the Shanghai Traditional Chinese and Western Medicine Society.

Chen Zhiqin Chen ZHIQIN Chief Physician Xiyuan Reproductive Center’s main person in charge

He graduated from Shanghai Jiaotong University School of Medicine Clinical Medicine in 2000; he graduated from the University of Hong Kong Medical College in 2005.Master from Yang Shubiao and Professor Wu Hongyu.He is good at diagnosis and treatment of patients with test tube baby technology and infertility, and repeated failure patients.Establish an individualized ovulation plan for patients, especially in regulating ovulation -promoting, and has rich experience in the use of antagonists.At the same time, it is good at fresh embryo transplantation, improves diagnosis and treatment efficiency, and saves time costs and medical expenses for patients.

He is currently a member of the Shanghai Medical Association Reproductive Medicine Branch, a member of the Reproductive Medicine Branch of the Shanghai Traditional Chinese Medicine Association, an editorial committee member of the Chinese Reproductive and contraceptive magazine, and a manuscript of the Asia Pacific region of Human REPRODUTION Magazine in 2020.In recent years, he has published more than 50 papers in Human Reproduction, Frtility and Sterility, RBE, Human Fertility, and Chinese reproductive and contraceptives.

Gaoke Fairview Changle Weiyang

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"Golden Key" No. 6

Knowhow Vol.6

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