Genetic screening

The gene screening of the carriers of Hezuo biological genetic disease is to detect the single gene genetic disease before pregnancy, find out the carrying situation of the pathogenic mutation in time, and indicate the risk of childbearing. It can avoid the birth of the sick children through prenatal diagnosis or the third generation of in vitro baby technology (PGD).

Background

At present, more than 7000 kinds of single gene genetic diseases have been known. Each person in the population carries about 5-6 genes that cause recessive genetic diseases. Single gene genetic diseases account for 10 / 1000 of the global neonatal morbidity.

Detection significance

The parents of children with recessive genetic disease often have no symptoms, and can not detect abnormalities in the routine birth test, until the disease appears after birth. The vast majority of single gene genetic diseases have no effective treatment, only 1% have effective treatment drugs, but the cost is expensive. The American Association of Obstetricians and Gynaecologists (ACOG) and the American Society of medical genetics and genomics (ACMG) and other relevant international industry associations have issued guidelines and statement suggestions on the screening of genetic disease carriers before / in the early pregnancy.