What is premarital genetic counselling?
Why is premarital genetic consultation important?
- Assessing genetic risks:
Premarital genetic counselling allows couples to assess their genetic risks and understand the likelihood of passing on genetic disorders to their children. By identifying if both partners are carriers of the same genetic condition, couples can make informed decisions about their reproductive options.
- Family planning
Genetic counselling helps couples plan their family in a way that minimises the risk of genetic disorders. Couples can explore various reproductive options, such as assisted reproductive technologies, prenatal testing, or even adoption, to ensure the health and well-being of their future children.
- Knowledge and awareness
Premarital genetic counselling raises awareness about genetic disorders and their frequency within specific populations. It provides individuals and couples with the knowledge to understand the potential risks and take appropriate steps to prevent or manage the impact of genetic disorders on their future children.
- Early detection and treatment
Identifying genetic risks through screening allows for early detection and appropriate medical management. Couples can opt for procedures like preimplantation genetic diagnosis (PGD) or prenatal testing to reduce the risk of passing on genetic conditions. It can also enable healthcare providers to provide tailored care and support to individuals and families affected by these conditions.
What are genetic disorders?
How are genetic disorders linked to marriages within families?
Which genetic disorders can occur as a result of marrying close relatives?
- Cystic Fibrosis: Impacts both the respiratory and digestive systems.
- Sickle Cell Anaemia: affects the shape of red blood cells and breaks down.
- Thalassemia: A group of blood disorders affecting haemoglobin production.
- Huntington’s Disease: Affects the nervous system, leading to progressive motor and cognitive decline.
- Neurofibromatosis which causes tumours to form on nerve tissue.
- Huntington’s Disease that affects the nervous system, leading to progressive motor and cognitive decline.
- Duchenne Muscular Dystrophy which affects muscle function and causes progressive weakness.
- Haemophilia that impairs the blood’s ability to clot.
At what stage should one think about genetic counselling?
Can premarital genetic consultation prevent all genetic risks?
Is premarital genetic consultation only for couples with known genetic conditions?
Is there any risk of genetic disorder if married out of relation?
What should I expect during premarital genetic counselling?
- Carrier Screening: This test checks if individuals carry gene mutations for certain genetic disorders, even if they do not show symptoms.
- Cytogenetic Testing: This test may be recommended to assess the structure and number of chromosomes. This type of testing is often used in prenatal care to screen for conditions such as Down syndrome.
- Hemoglobinopathy Testing: This test examines haemoglobin abnormalities, especially for individuals in populations with a higher incidence of haemoglobin disorders.
- Molecular Genetic Testing: Molecular genetic testing analyses genes for mutations or variations using techniques such as DNA sequencing or targeted testing for specific conditions.
- Preimplantation Genetic Testing (PGT): For couples undergoing assisted reproductive technologies like in vitro fertilisation (IVF), preimplantation genetic testing may be recommended. This involves screening embryos for genetic abnormalities before implantation.
What is preimplantation genetic testing (PGT) ?
How can we prevent genetic disorders?
- Genetic Counselling: Seek guidance before starting a family, especially with a family history of hereditary conditions.
- Preconception Planning: If you are aware of specific hereditary conditions in your family, consider preconception planning. Discuss family planning goals with your healthcare providers and genetic counsellors before pregnancy.
- Lifestyle Modifications: Adopt a healthy lifestyle with a balanced diet, regular exercise, and the avoidance of harmful substances.
- Education and Awareness: Stay informed about hereditary disorders and genetic advancements for informed family planning.
How much does a premarital genetic consultation cost?
Gulani A, Weiler T. Genetics, Autosomal Recessive. 2023 May 1. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan–. PMID: 31536227.
Lashwood A. Preimplantation genetic diagnosis to prevent disorders in children. Br J Nurs. 2005 Jan 27-Feb 9;14(2):64-70. doi: 10.12968/bjon.2005.14.2.17433. PMID: 15750505.