Why Get Tested
For Your Child’s Health
80% of children born with genetic disease have no family history of the condition. These genetic disorders may cause babies to have physical disability, cognitive impairment, and other severe health problems. Although individually uncommon, inherited diseases collectively account for approximately 20% of infant mortality and hospitalizations (PubMed:22872815).
How It Works
Carrier screening is a genetic test used to identify carrier couples and individuals at risk for passing genetic disorders onto their children. Expanded carrier screening can help to identify a couple's carrier status before or during pregnancy to enable informed decision-making and to better prepare for what lies ahead.
China has a high birth defect rate, about 3 times that of US. Getting your genes tested before giving birth gives you a peace of mind and ensures the genetic health of your children.
In 2017, the American College of Obstetrics and Gynecology(ACOG) recognized expanded carrier screening as an acceptable screening strategy.
The severity of single-gene disorders in China
More than 8,000 known single-gene disorders
Single-gene disorders are collectively common
Severe and Profound
Most single-gene disorders cause early child deaths, or significant reduction in life quality
Only 5% of conditions can be medically treated
In China, there are 900,000 newborns with birth defects each year
Single-gene disorders contribute to 22.3% of total birth defects
Data source:  http://www.omim.org/statistics/entry  http://www.who.int/  Orphan Drug Report 2014  China Birth Defects Prevention Report 2012  March of Dimes Global Birth Defects Report 2006
What We Screen For
In the Pure Genetics test, we screen for over 300 of the most common and severe inherited diseases. These disorders can either significantly shorten the baby's life span, or severely impact quality of life. Getting tested before welcoming the new life has been shown to reduce the incidence of inherited disease by over 90% for specific conditions.
Spinal Muscular Atrophy(SMA)
What If I’m A Carrier?
If you are tested to be a carrier, don't panic because there are more options available to you than you think. Our experts will handhold you through the process so you can enjoy a healthy family. We have 46 chromosomes that come in pairs (23 pairs). One of each pair is inherited from you mother and the other from your father. The last set of chromosomes are called sex chromosomes and are paired as XX (female) or XY(male). The single-gene diseases we screen for are autosomal recessive, and X-linked recessive.
Autosomal Recessive: Both copies of a gene has a mutation/change for an individual to be affected with the genetic condition. Parents are usually unaffected but each “carry” a mutation in one of their two copies of the gene. If both parents are carriers of the same genetic condition, there is a 1 in 4 or 25% chance to have an affected child.
X-linked Recessive: A mutation/change is located on the X chromosome. Typically, only males are affected if they have the mutation since they have only one x-chromosome. Females with the mutation are typically unaffected because they have two x-chromosomes, but are considered “carriers”. If a woman is a carrier for an X-linked condition, there is a 50% chance to her son to be affected, and a 50% chance for her daughters to be carriers. If a male is affected then ALL his daughters will be carriers and ALL of his sons will be healthy and not carriers.
Rarely, females can inherit an X-linked recessive disorder. If both parents are affected, ALL of their children will be affected. If the father is affected and the mother is a carrier, 50% of their children will be affected (boys or girls), while the other 50% will be healthy boys or carrier girls.
A test for every couple who are pregnant or planning to get pregnant
This test is suitable for couples with fertility needs, including:
- No known family history of genetic diseases
- Couples who had babies with birth defects
- Couples who are related
- Couples who intend to go through IVF
Most conditions assessed with carrier screening are inherited recessively. If both parents are carriers of the same condition, every pregnancy has a 1 in 4 (25%) chance of being affected.
The Step By Step Process
We Are With You The Whole Way
Register your kit through Pure Genetic's WeChat service account. Tie the barcode on your kit to your WeChat account so you receive your report timely.
Provide a sample
Collect a saliva sample and ship to us.
Get your results
You will receive a notification in WeChat when results are ready. You can read and download your results in Pure Genetic's WeChat account.
Talk to a genetic counselor
A consultation with one of our genetic counselors is included in our carrier screening. Counseling is available by appointment.