Carrier Screening is a type of genetic test that can tell you whether you carry a gene for certain genetic disorders. When it is done before or during pregnancy, it allows you to assess your chances of having a child with a genetic disorder. Consanguineous couples are at increased risk of being heterozygous for the same autosomal recessive (AR) disorder(s), with a 25% risk of having an affected off spring as a consequence. For a person to get AR disorder, two genes one inherited from father and one from mother is required.If a person has only one gene for a disorder, he or she is known as a carrier. Carriers often do not know that they have a gene for a disorder. They usually do not have symptoms or have only mild symptoms.
Before pregnancy gives you a greater range of options and more time to make decisions
All women who are thinking about getting pregnant or who are already pregnant are offered carrier screening for cystic fibrosis, haemoglobinopathies Spinal muscular atrophy, Fragile X syndrome , Tay-Sachs disease, Canavan disease, Familial dysautonomia, Alpha-thalassemia, Beta-thalassemia, & Sickle cell disease.
There are two approaches to carrier screening for additional disorders.
In targeted carrier screening, you are tested for disorders based on your ethnicity or family history In expanded carrier screening, many disorders are screened using a single sample.
If both you and your partner are carriers of the same gene mutation then
Next-Generation Sequencing