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-CS16？

Expanded Carrier Screening (ECS) is a genetic test that checks if you carry mutations in genes associated with certain inherited conditions, even if you don’t have symptoms. This test can look for many conditions at once and helps prospective parents understand the risk of passing these conditions to their children. ECS helps couples make informed family planning decisions and explore options to manage potential genetic risks, and is recommended for all individuals who are pregnant or planning a pregnancy. By identifying carriers early, ECS supports better prenatal care and helps prepare for possible genetic conditions. This test screens for 16 of the most common and severe inherited diseases.

Clinical Indications

Understand Carrier Status: Gain insight into whether you or your partner carry pathogenic variants associated with inherited disorders.

Plan for a Healthy Pregnancy: Use Pre-Implantation Genetic Testing (PGT) alongside IVF to help ensure a healthy pregnancy by reducing the risk of passing on genetic conditions.

Explore Alternative Options: Consider using a sperm or egg donor, or explore adoption as alternative family-building options.

Prenatal Diagnosis: Conduct detailed prenatal testing during pregnancy to identify potential genetic conditions early.

Arrange Specialist Care: Ensure specialized medical care is available during pregnancy and delivery if necessary.

Prepare for Management and Treatment: Plan for the management and, where available, treatment of any affected child.

Target Population

ECS is recommended for individuals in early pregnancy (<14 weeks) or healthy couples planning a pregnancy who have no personal history and no family history of genetic disorders.