Before Marriage

Issues to be considered by Couples:

·      Chronic diseases like diabetes, renal impairment, hypertension, cardiac problems, hormonal disorders should be diagnosed, resolved or controlled.

·      There are many disorders appear without any symptoms at preliminary stage. Therefore, full body checkup is recommended for both partners before any relationship.

·      Screening/testing of both partners for sexually transmitted infectious disease (STI) like HIV, hepatitis (B & C), syphilis, gonorrhea etc. must be performed before any relationship.

·      Assessment of reproductive capability (fertility testing) of both partners is required to ensure successful pregnancy.

·      Genetic disorders like thalassemia, sickle cell disease, hemophilia, cystic fibrosis, Huntington's disease, Fragile X syndrome, Marfan syndrome etc. may pass down to offspring. Carriers of genetic defect (mutation) may remain asymptomatic and the mutation may be inherited by offspring. Genetic testing/screening is useful to identify such silent carriers to avoid birth of babies with genetic defect.

·      Thalassemia: A thalassemia carrier has one mutated gene for hemoglobin but generally does not have the disease and lives a normal, healthy life. They are usually asymptomatic, though they may have mild anemia. While not a disease, it is crucial to know carrier status for family planning, as two carriers run a 25% risk per pregnancy of having a child with severe thalassemia. Therefore, it is wise to avoid relationship between blood related couple.

·      Sickle cell disease: Sickle cell carriers inherit one sickle cell gene and one normal hemoglobin gene. Carriers generally do not experience symptoms of sickle cell disease (SCD) and live normal lives, but they can pass the gene to their children. If both parents are carriers, there is a 1 in 4 chance of having a child with SCD in each pregnancy.

·      Hemophilia: A hemophilia carrier is a female who inherits a gene mutation for hemophilia A or B on one of her two X chromosomes. While typically not having severe hemophilia, carriers can experience mild to moderate bleeding symptoms due to low clotting factor levels. They have a 50/50 chance of passing the gene to each child, potentially leading to hemophilia in sons or carrier status in daughters. 

·      Cystic fibrosis: A cystic fibrosis (CF) carrier has one mutated gene and one normal gene, meaning they do not have the disease but can pass the mutation to children. Carriers are generally healthy and asymptomatic, though they may have a slightly higher risk for mild symptoms like sinus issues. If both parents are carriers, there is a 25% (1 in 4) chance their child will have CF.

·      Huntington's disease (HD): It is an inherited neurodegenerative disorder. A child has a 50% chance of inheriting the mutated gene if one parent is a carrier. The disease causes progressive breakdown of nerve cells in the brain, typically manifesting between the ages of 30 and 50. If one parent has the gene, each child has a 50% chance of inheriting it, regardless of gender. If both parents carry the gene, the risk increases to a 75% chance for each child. If a parent has two copies of the gene, all their children will inherit the gene and develop the disease. When the mutated gene is passed from the father, the disease appears earlier and become more severe in successive generations. Almost all cases of juvenile-onset Huntington's disease (symptoms before age 10) are inherited from the father. While less likely to show extreme early-onset, children of affected mothers may have a more similar age of onset to their mother.

·      Fragile X syndrome: carriers possess an altered gene but generally do not exhibit all of the symptoms. Carriers (often found in 1 in 250 women and 1 in 800 men) may experience conditions like early menopause or tremor/ataxia syndrome, and can pass the gene to offspring, where it may expand to cause the full syndrome. Female carriers have up to a 50% chance of passing the gene, which may expand to the full mutation in a child. Male carriers pass the gene to all their daughters, but none of their sons. Genetic testing (blood test) can determine if someone is a carrier, recommended for those with family histories of intellectual disabilities or autism.

·      Marfan syndrome: symptoms may appear at any age, from infancy to adulthood. While it is a congenital condition (present at birth), many of its characteristic traits are progressive, meaning they become more noticeable or severe as a person grows. Some individuals have very mild features and may not realize they have the condition until they experience an adult-onset complication, such as aortic enlargement or sudden vision changes due to a dislocated lens. A person only needs to inherit one mutated gene to have the condition. Therefore, there are no true "carriers" who hold the gene without symptoms. Each child of an affected parent has a 50% chance of inheriting the condition.