Genetic Counselling

Perinatal Genetics is a comprehensive clinical service that focuses on the evaluation, diagnosis, management, and treatment of defects before birth. These may involve chromosomal abnormalities, hereditary disorders, and metabolic conditions before and during pregnancy, as well as structural anatomical defects during pregnancy. Genetic counselling is often sought by individuals or couples planning a pregnancy, those with a family history of genetic conditions, or individuals with concerns about their own genetic health.

Genetic Counselling
FAQs

  • Our experts who are experienced in both genetics and in counselling will talk to you about your genetic condition. These genetic conditions may be inherited (carried down) from one or both parents, sometimes these conditions are caused by changes or mistakes in genes. Genetic counselling can help us to understand more about an inherited condition and what causes it. Our genetic counselling experts can walk you through genetic testing which helps us to identify a best lifestyle and to figure out future plans. Cystic fibrosis, Fragile X syndrome, Neural tube defects, Haemochromatosis, Haemophilia, Muscular dystrophy, Huntington’s disease are some of the common hereditary genetic conditions (passed down/ carried down from your parents). If you have symptoms or a family history of a genetic condition, our experts may recommend genetic testing. Genetic testing can also tell you about the chance of passing a genetic condition on to your children. This type of testing is called reproductive genetic carrier screening.

  • Genetic Counselling helps us to diagnose your genetic condition and to understand that condition better. This leads our experts to plan and manage your pregnancy, lifestyle and your future as well. Genetic counselling can also be helpful for some hereditary forms of conditions like cancer, diabetes and epilepsy.

    Prenatal testing

    Our fetal medicine experts recommend a pregnancy check-ups and scans, including prenatal screening and testing to check the health of your baby during pregnancy. Sometimes the screening tests find an increased risk of a health problem. If the tests detect an increased risk of a chromosomal condition, such as Down syndrome, further testing may be recommended. The tests may include:

    • amniocentesis
    • chorionic villus sampling (CVS)
    • If you have a genetic condition.
    • If there is a chance you have an genetic condition because it runs in your family.
    • If you have a family history of young-onset cancers like bowel, breast, or ovarian cancer.
    • If you have a child that is showing signs of a genetic disorder.
    • If you are planning a pregnancy and you want to understand the likelihood of your baby having an inherited condition.
    • If you are pregnant and have a prenatal test that shows an abnormality or risk of a health problem with your baby.
    • If you are thinking of having a child with a blood relative
    • Family history of a suspected genetic disorder
    • Planning a marriage in consanguinity (i.e. in relation)
    • Bad obstetric history/ recurrent pregnancy loss
    • Neonatal or infant or fetal deaths/previous children with metabolic disorder, neurological issues, growth and development abnormalities, cardiac anomalies, etc.
    • Children and Adults with hearing and visual impairment
    • Infertility
    • Carrier Screening positive for thalassemia/ other hemoglobinopathies
    • Chromosomal rearrangements in blood karyotyping report
    • Family history of chromosomal/ genetic disorder
    • Consanguineous marriage – to determine if carriers of any potential genetic condition
    • Post fetal-autopsy counselling
    • Screening test positive for Down syndrome.
    • Prenatal Diagnosis
    • Non-invasive prenatal screening test
    • Congenital anomalies identified on ultrasound
    • Exposure to drug/ teratogens in pregnancy
    • Pre and post-test counselling for invasive procedures
    • Child born with
      • Suspected metabolic disorder
      • Chromosomal abnormality (eg. Down Syndrome)
      • Development delay
      • Dysmorphism
      • Failure to thrive
    • Skeletal abnormality eg: Osteogenesis Imperfecta, Achondroplasia
    • Intellectual disability
    • Neurological and neuromuscular disorders in the family
    • Autism spectrum disorders
    • Suspected single gene disorder
    • Post natal follow up of children with antenatally diagnosed anomalies
    • Detailed history and pedigree.
    • Thorough examination of the index child/ patient by the geneticist
    • Reviewing the reports
    • Plan testing accordingly

    Further counseling session may be required according to case complexities.

    • Enzyme replacement therapy for selective Lysosomal storage disorders.
    • Dietary management for Inborn errors of Metabolism
    • Facilitating therapies like Bone marrow transplant and Liver transplant
    • Therapy for Spinal Muscular Atrophy

  • MediScan is one of Asia’s premier fetal medicine centre known for its advanced fetal care services. They have more than four decades of experience in diagnostic and interventional ultrasound, They are most sought after by patients for their unparalled standard of care and quality. They are also a teaching institution attracting students all over the globe. You can be rest assured that you and your baby are in safe and expert hands during this exciting journey.