Carrier screening is a genetic test that can help determine if you carry a mutation for specific inherited genetic conditions that could be passed on to your child. Many individuals are carriers of various genetic conditions, often without experiencing any symptoms or affecting their own health. However, when two carriers for the same genetic condition have children together, there is a 25% chance that the child will inherit two mutated genes and develop the genetic condition. These conditions, which can be detected through carrier screening, are typically severe and can result in death or serious disability during early childhood. Therefore, carrier screening plays a crucial role in reducing this risk.
Examples of genetic conditions range from relatively mild ones like Deafness to more debilitating conditions such as Sickle Cell Disease (1), which can significantly impact a child's quality of life and decrease life expectancy.
At Circle, we believe in the empowerment of individuals to take control of their health by providing them with knowledge about their genetic makeup. Using advanced next-generation sequencing technology, our Circle Family Planning test analyzes DNA samples to identify genetic risks for over 160 inherited genetic conditions. By knowing your and your partner's risk profiles before pregnancy, you have the opportunity to consider your options and make informed choices. Your healthcare provider can guide you through the available options.
(1) Sickle Cell Disease is an inherited blood disorder that affects a crucial component of red blood cells called hemoglobin, resulting in the cells taking on a stiff crescent shape resembling a sickle. Sufficient levels of red blood cells and hemoglobin are necessary for effectively delivering oxygen to all the cells in the body. As the sickled blood cells die prematurely, inadequate oxygen delivery can cause weakness and fatigue. These sickled cells can become lodged in small blood vessels, blocking blood flow and causing serious medical complications such as tissue deterioration.