Carrier Screening (recessive diseases)

Single-Gene Genetic Disorders

The overall incidence rate for single-gene disorders is as high as 1%, higher than that of Down syndrome. Some representative examples of single-gene genetic disorders include: such as Thalassemia, Hereditary hearing loss, Phenylketonuria, and Spinal muscular atrophy (SMA). These disorders often have severe symptoms, yet the majority lack effective treatment options. Affected children can experience significantly impaired survival and quality of life. Carrier screening is an effective means of preventing single-gene genetic disorders. By identifying individuals who carry disease-causing mutations before or during pregnancy, couples can take proactive measures to avoid the birth of a child with a single-gene disorder, such as preimplantation genetic testing (PGT) and prenatal diagnosis.        

What is Expanded Carrier Screening-CS200？

Expanded Carrier Screening (ECS) is a genetic test designed to identify asymptomatic carriers of pathogenic variants associated with inherited disorders. By simultaneously analyzing multiple genes, ECS empowers couples to assess their risk of transmitting monogenic conditions to their offspring.

Inheritance Patterns & Risks:

1.Autosomal recessive disorders: If both parents are carriers, there is a 25% chance of having an affected child.  

2.X-linked recessive disorders: If the mother is a carrier, male offspring have a 50% risk of being affected.  

ECS is recommended for all individuals of reproductive age (pregnant or planning pregnancy) to:  

1. Support informed family planning.

2. Enable early prenatal risk management.

3. Optimize preparedness for potential genetic conditions.

Clinical Indications

1.Understand Carrier Status： 

• Clarify personal and partner carrier risks through clinical genetic counseling.

2.Plan for a Healthy Pregnancy (High-Risk Families)： 

• Preimplantation Genetic Testing (PGT): Utilize PGT-M with IVF to select embryos without targeted genetic disorders.

• Prenatal Diagnosis:Confirm fetal status via chorionic villus sampling (CVS), amniocentesis, or non-invasive prenatal testing (NIPT).  

• Alternative Pathways: Explore donor gametes, adoption, or natural conception with enhanced prenatal monitoring based on risk stratification.

3.Coordinate Specialized Care：

• Ensure access to maternal-fetal medicine specialists and neonatal critical care resources.

4.Develop Management Plans：   

• Prepare condition-specific interventions, including available therapies or clinical trials for affected children.