Preimplantation Genetic Testing (PGT)

Key points of PGT

  • Preimplantation genetic testing (PGT) can detect gene problems before pregnancy by using advanced technology to test an embryo during IVF.
  • Single-gene disorder can’t be detected by the routine pregnancy test. However, genetic tests conducted before pregnancy may detect pathogenic genes on time.
  • Preimplantation genetic testing applied in the third-generation IVF technology provide double guarantees for good childbearing and sound childrearing.

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Genetic testing overview

Humans have 23 pairs of chromosomes for a total number of 46. There are 22 pairs of autosomal chromosomes. The other two chromosomes, X and Y, are sex chromosomes. A mutation that affects genes on chromosomes may cause diseases. Genes are characterized into dominant genes and recessive genes. Pathogenic genes on different chromosomes have different inheritance patterns.

Based on this, we can divide the monogenic disease into the following types: autosomal recessive inheritable disease, autosomal dominant inheritable disease, X-linked dominant inheritable disease, X-linked recessive inheritable disease and Y-linked inheritable disease.

What is genetic testing?

Preimplantation genetic testing (PGT) is a technology that uses specific equipment to detect DNA or RNA sequence in the drawing blood, extracting saliva or other body fluids, genetic material DNA or RNA of the body cells or body components. It analyzes various sequential differences and mutated genetic conditions, making it possible to understand our genetic information.

At present, the genetic test is the foundation of personalized precision medication, mainly used in the disease and health-care industry. It includes complete procedures, from pre-conception preparation, pregnancy tests to disease risk prediction, diagnosis, medicine-taking and treatment, closely related to our daily lives.

For example, it is necessary to do a genetic test to guarantee good childbearing and sound childrearing. Those with a disease like thalassemia, muscular dystrophy or hemophilia might carry recessive pathogenic genes. This kind of disease carrier may not get sick himself, but he has the potential to pass on the pathogenic gene to the next generation. If his partner also carries the same pathogenic gene, their child will have a higher risk of suffering from the genetic disease. Thus, a genetic test can help the disease carrier better understand the risk and make corresponding treatment decisions earlier.

A genetic test can predict the potential risk and access preventive treatment of disease. It has been discovered that sudden conditions at many binding sites in the genome will affect disease risk. It can detect whether you have a high-risk genetic mutation. After you have a comprehensive understanding of your disease, you can try to take precautions against the disease as early as possible.

The current whole genome test covers all genes in more than 30 million binding sites of 10 major body systems and involves 14 common diseases and 3000 rare diseases.

Genetic test procedures

  1. Taking samples
  2. DNA extraction
  3. Detecting in the laboratory
  4. Data analysis
  5. Reporting and interpretation