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The information provided in this article is for educational purposes only and is based on NHS recommendations. It is not a substitute for professional medical advice. Always consult your doctor or a qualified healthcare provider for advice on medical conditions or treatments.

what is Genetic Counselling?

Pre-pregnancy genetic counselling provides information and support to individuals and couples planning a pregnancy. Our genetic counsellors help you understand your genetic health, the implications of genetic testing, and the potential impact on your future children. This personalised approach ensures you are fully informed and supported throughout the planning process.

At Spital Clinic, our pre-pregnancy genetic counselling services include pre-test counselling, post-test counselling, and ongoing support. Our experienced genetic counsellors work closely with you to develop a personalised plan that addresses your specific concerns and needs. Whether you're planning a first pregnancy, have a family history of genetic conditions, or want to assess your genetic health, we are here to help.

Why Choose pre-pregnancy Genetic Counselling?

  • Planning for a healthy pregnancy
  • Understanding hereditary conditions
  • Evaluating the need for further testing
  • Making informed decisions about your health
  • Avoiding unnecessary tests
  • Ensuring the best care for your family
  • How is Genetic Counselling Conducted?

    Pre-pregnancy genetic counselling at Spital Clinic involves an initial appointment where your genetic counsellor will ask about your medical history and review any relevant medical records. They will then recommend a personalised plan, which may include genetic testing or a treatment plan. Once any tests are completed, your genetic counsellor will discuss the results with you and develop a comprehensive plan to manage your genetic health.

    How Does Pre-pregnancy genetic counselling Affect Your Life?

    Pre-pregnancy genetic counselling can have a profound impact on your life. It provides clarity and understanding about your genetic health, helping you make informed decisions about your future. With the support of our genetic counsellors, you can manage potential risks, plan for a healthy family, and feel confident in your health choices. This proactive approach leads to better health outcomes and peace of mind.

    Spital Clinic Genetic Tests.

    1. Non-Invasive Prenatal Testing (NIPT): Screens for common chromosomal conditions in the fetus.
    2. Carrier Screening: Identifies if you carry genes for certain hereditary conditions.

    what is a Carrier Genetic Testing?

    Carrier Genetic Testing is a medical screening process designed to identify individuals who carry genetic mutations associated with inherited disorders. This type of testing is particularly important for couples planning to have children, as it can reveal if they are at risk of passing on certain genetic conditions to their offspring. The test focuses on recessive genetic disorders, where an individual can carry a mutated gene without showing symptoms of the condition.

    By detecting these 'silent' genetic variations, Carrier Genetic Testing empowers individuals and couples with valuable information about their reproductive risks. It allows for informed decision-making regarding family planning and potential preventive measures. The test typically screens for a range of conditions, from relatively common disorders like cystic fibrosis to rarer genetic syndromes, depending on the specific panel used.

    What are the most common inherited genetic conditions?

    Genetic counselling can help diagnose a range of genetic conditions. Through a thorough review of your personal and family medical history, our genetic counsellors can identify potential hereditary conditions. Common conditions include Down syndrome, cystic fibrosis, and hereditary cancers. We use advanced genetic testing to confirm diagnoses and provide detailed information on the condition.

    1. Cystic Fibrosis: A condition affecting the lungs and digestive system.
    2. Sickle Cell Anaemia: A blood disorder affecting red blood cells.
    3. Thalassaemia: Another group of blood disorders affecting haemoglobin production.
    4. Spinal Muscular Atrophy (SMA): A condition causing muscle weakness and wasting.
    5. Fragile X Syndrome: A genetic condition causing intellectual disabilities.
    6. Tay-Sachs Disease: A rare disorder that destroys nerve cells in the brain and spinal cord.
    7. Haemophilia: A group of disorders affecting blood clotting.
    8. Duchenne Muscular Dystrophy: A condition causing progressive muscle degeneration.
    9. Huntington's Disease: A progressive brain disorder affecting movement, mood, and thinking skills.
    10. Phenylketonuria (PKU): A metabolic disorder affecting the body's ability to process certain amino acids.

    Carrier Genetic Testing screens for these and many other conditions.

    Why Choose us?

    We provide a comprehensive range of services, from private GP consultations and specialised men's and women's health care to advanced ultrasound scans and proactive health screenings, all within a reassuring and state-of-the-art environment.

    Spital Clinic - Ultrasound Scans, Specialists in MSK, Cardiovascular and Gynae Ultrasounds.

    Holistic healthcare

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    Frequently Asked Questions

    You have a question? We have an answer.

    What is the difference between Carrier Genetic Testing and other genetic tests?

    Carrier Genetic Testing specifically focuses on identifying individuals who carry genetic mutations associated with recessive inherited disorders. Unlike diagnostic genetic tests, which look for genetic changes in people who already show symptoms of a condition, carrier testing is typically performed on healthy individuals who want to understand their risk of passing on genetic disorders to their children.

    This type of testing is particularly valuable for family planning, as it can reveal hidden genetic risks before pregnancy occurs. In contrast, other genetic tests like predictive testing or pharmacogenomics focus on an individual's own health risks or medication responses. Carrier testing is unique in its emphasis on reproductive risks and its potential to inform decisions about future pregnancies.

    How accurate is Carrier Genetic Testing?

    Carrier Genetic Testing is generally highly accurate, with most tests having sensitivity and specificity rates above 99%. However, it's important to understand that no genetic test is 100% accurate. The precision of the test can vary depending on the specific condition being screened for and the testing method used.

    Factors that can affect accuracy include the rarity of the condition, the number of known mutations associated with the disorder, and the quality of the DNA sample provided. It's also crucial to note that a negative result doesn't completely eliminate the risk of being a carrier, as some rare mutations might not be included in the test panel. This is why genetic counselling is an essential part of the testing process, helping individuals and couples understand the implications and limitations of their results.

    Can Carrier Genetic Testing detect all genetic disorders?

    While Carrier Genetic Testing can screen for a wide range of genetic disorders, it cannot detect all possible genetic conditions. Most carrier screening panels focus on the most common and severe recessive disorders, but the exact conditions tested for can vary depending on the specific panel used and the testing laboratory.

    It's important to understand that new genetic mutations are continually being discovered, and some rare conditions may not be included in standard screening panels. Additionally, some genetic disorders are caused by complex interactions between multiple genes and environmental factors, which may not be detectable through carrier screening. This is why it's crucial to discuss family history and any specific concerns with a genetic counsellor, who can recommend appropriate testing based on individual risk factors.

    When is the best time to get Carrier Genetic Testing?

    The ideal time for Carrier Genetic Testing is before pregnancy, as part of preconception planning. This timing allows couples to understand their genetic risks and make informed decisions about family planning before conception occurs. Testing before pregnancy provides the widest range of options if both partners are found to be carriers of the same condition.
    However, carrier screening can also be performed during early pregnancy. While this limits some options, it can still provide valuable information for prenatal care and future pregnancy planning. Some healthcare providers recommend carrier screening for certain conditions as part of routine prenatal care. Ultimately, the best time for testing depends on individual circumstances and should be discussed with a healthcare provider or genetic counsellor.

    Does a positive carrier test result mean my child will have the genetic disorder?

    A positive carrier test result does not necessarily mean that your child will have the genetic disorder. If only one partner is a carrier for a recessive condition, the risk of having an affected child is very low. In this case, the child would need to inherit the mutated gene from both parents to develop the condition.

    If both partners are carriers of the same recessive disorder, there is a 25% chance with each pregnancy that the child will inherit the mutated gene from both parents and be affected by the condition. There's also a 50% chance the child will be a carrier like the parents, and a 25% chance the child will not inherit the mutation at all. It's important to discuss positive results with a genetic counsellor to fully understand the implications and explore available options.

    Is Carrier Genetic Testing covered by the NHS?

    The NHS does offer some Carrier Genetic Testing, but coverage is not universal and depends on various factors. Generally, the NHS provides carrier screening for certain conditions if there's a known family history or if an individual belongs to a high-risk ethnic group. For example, screening for sickle cell and thalassaemia is routinely offered to all pregnant women in England.

    For more comprehensive carrier screening or testing for rarer conditions, individuals may need to seek private healthcare options. Some NHS trusts may offer expanded carrier screening, but availability can vary by region. It's advisable to discuss your specific situation with your GP or a genetic counsellor to understand what testing options are available to you through the NHS and what might require private funding.

    Can Carrier Genetic Testing results affect my insurance or employment?

    In the UK, there are strong protections in place to prevent genetic discrimination in insurance and employment. The Concordat and Moratorium on Genetics and Insurance, agreed upon by the government and the Association of British Insurers, prohibits insurers from asking for or using predictive genetic test results for most insurance products, including life insurance up to £500,000. Regarding employment, the Equality Act 2010 protects individuals from discrimination based on genetic information. Employers are not allowed to request genetic test results as a condition of employment. However, it's important to note that if a genetic condition manifests and affects your ability to do your job, normal rules regarding illness and capability would apply. Overall, the results of Carrier Genetic Testing should not negatively impact your insurance or employment prospects in the UK.

    word around the street...

    According to verified reviews from platforms such as Doctify, TrustPilot and Google - 99% patients have a positive experience at Spital Clinic.

    Spital Clinic 5 Star Services in City of London. Reliable healthcare provider.

    "Great experience. Frustratingly we had 3 NIPTs come back with no result so had to do 3 blood redraws but thanks to LPC’s persistence we finally got a result on the 4th draw. After the 3rd no result they also kindly offered us a free anomaly scan."

    TL

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    Spital Clinic 5 Star Services in City of London. Reliable healthcare provider.

    "I had a surprisingly positive experience. The most friendly and helpful staff, clean and beautiful premises. The visit was smooth and quick but never felt rushed and I was able to ask all the questions I had. Thanks so much!"

    Anonymous

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    Spital Clinic 5 Star Services in City of London. Reliable healthcare provider.

    "The service was exceptional from the moment we booked to the moment we left the building post our appointment. The lovely colleagues at the main desk were great and approachable. They made the whole process very comforting."

    Rikesh Kerai

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    Spital Clinic 5 Star Services in City of London. Reliable healthcare provider.

    "I really recommend this clinic, everything was smooth and perfect. All staff are helpful and our sonographer Miss Shaz is an expert on her job, she is very kind and explained everything that we asked. I am glad to choose LPC."

    Damla Kuvet

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