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IVF: How to avoid having children with genetic diseases?

The article is reproduced from: Fertility Center of Yichang Central Hospital

Do you know? On the mainland, the total incidence of birth defects is about 5.6%, which means that about 900,000 defective children are born each year.

These children with birth defects bring great suffering to the family and also increase the burden on society.

For families with a family history of inherited diseases, the probability of having a child with birth defects is much higher than that of ordinary families without manual intervention.

What are genetic disorders?

Genetic diseases refer to diseases caused by changes in genetic material in germ cells or controlled by disease-causing genes, which are often congenital or acquired.

IVF: How to avoid having children with genetic diseases?

Common genetic diseases in mainland China include thalassemia, congenital neural tube malformations, Down syndrome, albinism, hemophilia, congenital deafness, color blindness, hypoplasia of cartilage, mucopolysaccharide storage, etc.

How can we avoid having children with genetic diseases?

In fact, genetic diseases can be prevented.

Couples preparing to have children, especially those with a family history of genetic disorders, should undergo genetics-related tests before pregnancy to determine whether there is a risk of having a child with a genetic disorder.

If a risk of having a child with a genetic disorder is found, third-generation IVF techniques can be chosen to reduce the risk of miscarriage, stillbirth, and fetal abnormalities.

What is IVF 3?

The third generation of IVF technology is a preimplantation genetic diagnosis and screening technology that expands on the basis of the first generation of conventional IVF and the second generation of single sperm injection technology, which can help families with a family history of genetic diseases and infertility to produce healthier children.

Preimplantation genetic diagnosis is genetic testing before the fertilized egg is implanted in the uterus to check whether the embryo carries a genetically defective disease-causing gene, thus avoiding some genetic diseases.

At present, preimplantation genetic diagnosis can effectively avoid diseases caused by single gene defects such as hemophilia and thalassemia.

Preimplantation genetic screening is to test the number of chromosomes and structural abnormalities of the early embryo before the embryo implantation is implanted, analyze whether the embryo has genetic material abnormalities, and select normal embryos to implant in the uterus in order to obtain a normal pregnancy.

Who is 3rd Generation IVF for?

Pre-transplant genetic diagnosis is indicated for people with:

Chromosomal abnormalities, including equilibrium translocations, Roche translocations, inversions, pathogenic microdeletions or micro-repetitions.

Single-gene genetic diseases, with clear diagnosis or clear link markers of pathogenic genes, such as thalassemia, hemophilia, polycystic kidneys, hereditary deafness, etc.

Serious diseases with genetic predisposition, such as BRCA1 and BRCA2 pathogenic mutations in hereditary breast cancer.

Human leukocyte antigenic matching.

Preimplantation genetic screening is indicated for people who:

The woman is of advanced age, that is, 38 years of age and older.

Spontaneous abortion ≥ 3 or 2 spontaneous abortions with at least 1 of them confirming a pathologically significant chromosomal or genetic abnormality.

Repeated implantation failures, i.e. transfer of quality embryos 3 or more times, or transfer of no less than 10 transferable embryos.

Severe teratosis.

In short, unprepared pregnancy testing is a great risk for families with familial genetic diseases.

The third generation of IVF technology combines reproductive medicine with genetics, which is to conduct genetic analysis before the embryo has implanted, which advances the prevention of genetic diseases to the pre-pregnancy stage and avoids the occurrence of genetic diseases from the source.

Expert introduction

IVF: How to avoid having children with genetic diseases?

Professor Ye Hong

Grade II Chief Physician, Master Supervisor, Visiting Scholar in the United States

Director of the Department of Obstetrics and Gynecology, Director of the Department of Obstetrics and Gynecology, Director of the Department of Obstetrics and Gynecology, director of the Reproductive Center of the First Clinical Medical College of China Three Gorges University & Yichang Central People's Hospital. Member of the Standing Committee of the Obstetrics and Gynecology Branch of the Chinese Endoscopic Association, Vice Chairman of the Reproductive Medicine Branch of the Hubei Medical Association, and Vice Chairman of the Hubei Women Physicians Association. The current chairman of the Obstetrics and Gynecology Branch of Yichang Medical Association is the director of Yichang Obstetrics and Gynecology Quality Control Center. He was awarded the title of "Ye Hong Famous Doctor Studio" by Yichang Municipal Government and "Municipal Management Expert" by Yichang Municipal Government.

He has extensive experience in the diagnosis and treatment of obstetrics and gynecology diseases, female reproductive endocrine diseases and infertility, and specializes in uterine and laparoscopic surgery and various assisted reproductive fertility techniques. He has successively led the departments of obstetrics, reproductive medicine and gynecology of the hospital to obtain the "Hubei Provincial Clinical Key Specialties", and led the department to obtain the 48th place in the national scientific and technological volume and value in 2018. He has published more than 60 academic papers in authoritative journals at home and abroad, including many SCI records. As the first person in charge, he has won a number of provincial and municipal scientific and technological progress awards, won a number of national and provincial scientific research projects, and edited two professional papers in Chinese and English.

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