Common gene defects and related diseases in test tube infants
IVF technology is an assisted reproductive technology, which helps infertile couples successfully conceive through in vitro fertilization, embryo transfer and other methods. Although IVF technology has made gratifying achievements, some genetic defects and genetic diseases still exist. This article will elaborate on the common genetic defects and related diseases of IVF from four aspects.
Chromosomal abnormality
Chromosome abnormality is one of the common genetic defects in IVF. Chromosome abnormalities can be divided into two types: numerical and structural abnormalities. Common chromosome diseases with abnormal numbers include Down syndrome, Edwards syndrome and Patterson syndrome. In addition, there are some common structural abnormal chromosome diseases, such as Kriegler syndrome and Wolf Hirschhorn syndrome. These chromosomal abnormalities will have an important impact on the physical and intellectual development of children.
In order to reduce the risk of chromosomal abnormalities, IVF technology is usually tested by embryonic chromosome screening (PGS). PGS can detect whether the chromosome number and structure of embryos are normal, which is helpful to select healthy embryos for transplantation.
Monogenic disease
Single gene disease is a genetic disease caused by single gene mutation. The common single gene diseases in IVF include blastocyst fibrosis, hereditary deafness and hereditary retinopathy. These diseases usually have a clear genetic pattern, and parents with abnormal genes have a higher risk of transmission.
For couples with single gene disease, the risk can be assessed through genetic counseling and genetic testing, and healthy gene embryos can be selected for transplantation. This can greatly reduce the risk of disease and improve the success rate of IVF.
Mitochondrial disease
Mitochondria are a kind of organ in cells, responsible for generating energy for cells to use. Mitochondrial diseases are a kind of genetic diseases caused by mitochondrial DNA mutations. Mitochondrial diseases usually lead to insufficient energy supply and affect the normal function of cells.
In IVF, women with mitochondrial diseases may pass on disease genes to the next generation. To avoid this situation, scientists developed a method called three person baby technology. This technology can reduce the risk of disease by combining the nuclear gene of the patient's mother with the mitochondrial DNA of healthy women.
Sex chromosome abnormality
Sex chromosome abnormality is a kind of gender related gene defect. The most common sex chromosome abnormalities are Klinefelter syndrome and Turner syndrome. Klinefelter syndrome is a male patient who carries an extra X chromosome, while Turner syndrome is a female patient who lacks an X chromosome.
For couples with abnormal sex chromosomes, IVF technology can help them achieve their reproductive aspirations and reduce the risk of genetic diseases. Scientists can select healthy embryos for transplantation through embryo gene testing.
To sum up, although IVF technology has brought good news to infertile couples, there are also risks of genetic defects and genetic diseases. Chromosome abnormalities, single gene diseases, mitochondrial diseases and sex chromosome abnormalities are common types of gene defects. The use of genetic counseling, gene testing and screening methods can greatly reduce the risk of disease and improve the success rate of IVF.
