Home - Reproductive Genetics - General Edition - Carrier Screening - Plus for Monogenic Inherited Diseases (442 types, CSKB)
Detection of 442 single-gene inherited diseases in 13 major systems to avoid the birth with single-gene recessive inherited diseases.
Recessive genetic disease refers to a genetic disorder that need 2 non-working copies on the same locus. People who have only 1 recessive gene is called "carrier" for the trait or disease, thus they don’t have any health problems.
Two carriers have a 25% chance of having an affected child with two recessive genes.
On average, each normal person carries 2.8 pathogenic variants of recessive genetic diseases
About 2% of families have a high risk of having children with recessive genetic diseases
Most of the patients have serious symptoms and are difficult to cure, which brings great pain and heavy burden to the family
80% of patients with recessive genetic diseases do not have any family history
1 Couples with abnormal chromosomes
2 Sperm/egg donors
3 Couples who need assisted reproductive technology to achieve eugenics
4 Couples who have a child inheriting a monogenic disease or have familial genetic diseases
5 Couples with abnormal reproductive history (recurrent miscarriage, repeated failure of IVF implantation, early abortion)
6 Women who are concerned about recessive inherited diseases during pregnancy (gestational week <8, both fetal bud and fetal heart developmental level should meet the gestational week)
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