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Premarital Genetic Consultation: A Preventive Measure for Genetic Risks

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Beginning the journey of marriage and family planning is an exciting phase in one’s life, full of hopes and desires. However, it is crucial to consider potential genetic risks and take necessary precautions to ensure the health and well-being of future children. This is where premarital genetic counselling plays a vital role.
Premarital genetic counselling is a process that involves assessing the genetic risks of couples and providing them with the necessary information and support to make informed decisions about family planning. Read to learn more!

What is premarital genetic counselling?

Premarital genetic counselling is assistance provided by the medical geneticist to individuals or couples who are planning to get married or are planning to have a baby. It aims to educate couples about the potential risk of passing on genetic disorders to their children, such as cystic fibrosis and sickle cell anaemia.

Why is premarital genetic consultation important?

Premarital genetic consultation provides valuable information and support that can help couples make informed decisions about family planning and reproductive options. It is important for the following main reasons:
  • 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?

Genetic disorders are conditions caused by abnormalities in an individual’s DNA, the genetic material that carries the instructions for the development, functioning, and maintenance of living organisms. These disorders can result from mutations, deletions, or duplications in genes, which may be inherited from one or both parents.

How are genetic disorders linked to marriages within families?

Marriage between close relatives, such as first cousins, increases the risk of genetic disorders in their children. This condition is known as consanguinity. When close relatives reproduce, there is a higher likelihood of inheriting genetic mutations or disorders that are present in both parents’ family backgrounds.
Many genetic disorders are recessive, meaning that an individual needs to inherit a mutated gene from both parents to express the disorder. If both parents are carriers (meaning they have one normal and one mutated gene), there is a 25% chance with each pregnancy that their child will get two mutated genes and develop the disorder.
Not everyone who is closely related and gets married will have children with health problems;it just increases the chances. Sometimes, children may inherit health issues, and sometimes they won’t.
If you are thinking about marrying a relative or if you and your partner are relatives and planning to have children, it is advisable to consult with a genetic counsellor. Seeking their advice can help you prevent future complications.

Which genetic disorders can occur as a result of marrying close relatives?

Certain genetic disorders may be more commonly found in the children of couples who are closely related:
Autosomal recessive disorders:
  • 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.
Autosomal dominant disorders:
  • Neurofibromatosis which causes tumours to form on nerve tissue.
  • Huntington’s Disease that affects the nervous system, leading to progressive motor and cognitive decline.
X-Linked disorders:
  • 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?

Genetic counselling should be considered at various stages, including before marriage, during the planning of pregnancy, and even in the absence of known genetic conditions.

Can premarital genetic consultation prevent all genetic risks?

No, premarital genetic consultation can not prevent all genetic risks, but it serves as a valuable tool to identify and manage the risks associated with genetic conditions. It helps to provide individuals and couples with information about their genetic makeup and family history, allowing them to make informed decisions.

Is premarital genetic consultation only for couples with known genetic conditions?

No, premarital genetic consultation is not only for couples with known genetic conditions. It is beneficial for all couples, regardless of whether they have a history of genetic disorders in their families.
Even if there is no known genetic condition in the family, individuals may still carry recessive genetic variants that, when combined with a partner carrying a similar variant, could pose a risk to their child.

Is there any risk of genetic disorder if married out of relation?

Marrying someone outside of close blood relations generally lowers the risk of genetic disorders, as it introduces greater genetic diversity. While it does not eliminate all risks, non-consanguineous marriages are associated with reduced chances of both partners carrying the same recessive genetic mutations, compared to marrying close relatives.

What should I expect during premarital genetic counselling?

Your genetic counsellor will inquire about you and your partners medical history and family history of genetic disorders. You will also be asked to do some genetic tests such as:
  • 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) ?

Preimplantation genetic testing is suitable for individuals or couples who are undergoing assisted reproductive technologies (ART), such as in vitro fertilisation (IVF) and have specific concerns or risk factors related to genetic conditions.
It is a reproductive technology that involves the examination of embryos for genetic abnormalities or specific genetic conditions before they are implanted into the uterus during in vitro fertilisation (IVF). PGT helps identify embryos with chromosomal abnormalities, genetic disorders, or specific gene mutations, allowing for the selection of embryos that are more likely to result in a successful pregnancy and the birth of a healthy child.

How can we prevent genetic disorders?

Individuals and couples can take the following steps to lower their risk of 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?

The cost of premarital genetic consultation can vary widely depending on factors such as location, the specific services provided, and whether any genetic testing is included.

References:

Gulani A, Weiler T. Genetics, Autosomal Recessive. 2023 May 1. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Janā€“. 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.

Written By:

Ashvini Bhalekar

Ashvini Bhalekar

A medical writer with a Bachelor's degree in Pharmacy who eloquently explores various aspects of medicine and science. Discover her insightful contributions and writings covering a spectrum of healthcare topics.

Dr. Anup Rawool
WRITTEN BY

Dr. Anup Rawool

An Associate Director at SRL & medical geneticist.
Dr. Anup Rawool shares insights on medical genetics, including diagnosis and prevention. Talks about the importance of genetic counseling for couples facing genetic disorders.

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One thought on “Premarital Genetic Consultation: A Preventive Measure for Genetic Risks

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