The American College of Obstetricians and Gynecologists, recommends that carrier screening be offered to all women who are pregnant or planning to become pregnant. Carrier screening can provide information for your risk assessment if you and your partner may carry certain genes which may cause medical conditions to your baby, such as cystic fibrosis or spinal muscular atrophy.

What does it mean to be a carrier?

    A carrier is a person who has genetic change (variant) which can be passed to next generations. Carriers do not typically have symptoms but do have risk of passing the condition to their children. Even if there is no one in the family who has a condition, parents can still be a carrier to rare genetic diseases in babies.

Key Genetic Condition Screening

● Alpha thalassemia: an inherited blood disorder that causes anemia and prevent your body of getting enough oxygen

● Cystic fibrosis: an inherited genetic condition, which can cause abnormal mucus production leading to lung disease and nutritional deficiencies

● Spinal muscular atrophy: an inherited neuromuscular disorder that causes severe muscle weakness and progressive loss of voluntary muscle control. The most common type of spinal muscular atrophy (SMA) is type 1, which begins in the first few months of life and children with this type typically pass away before the age of two

● Congenital adrenal hyperplasia: a genetic condition characterized by an imbalance in the hormones produced by adrenal glands, such as aldosterone, cortisol, and androgens leading to variety of potential clinical symptoms.

● Fragile X: a family of inherited genetic conditions caused by changes in the gene FMR1, which is located on the X chromosome. FMR1 has a set of three letters of DNA “CGG” that repeat over and over and the number of repeats determine whether a person will have a fragile X disorder. Premutation (55-200 repeats) may associate with neurodegenerative disorder after age 50 including tremors, memory loss dementia, lower limb weakness, and mental or behavioral changes or reproductive condition causing early menopause. Full expansion (200+ repeats) may affect nervous systems and those affected may display intellectual disability, behavioral, and learning challenges, and various facial characteristics.