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About Clinical Genetics & Genetic Counselling

Clinical Genetics & Genetic Counselling

Our genetic counselling is a health service that provides information and support for people who either have or are at a high risk of developing a genetic disorder. The most common reasons for genetic investigations are congenital abnormalities, psychomotor and physical retardation, autism and reproductive problems.

During genetic counselling, our geneticist specialist will meet with the patient and/or their family to discuss their genetic risks, as well as any diagnoses. Each genetic counselling session will include a detailed medical history, a detailed family history, and a thorough physical examination of the patient and possibly his/her relatives.

 

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Clinical Genetics & Genetic Counselling GHB

Clinical indications that warrant genetic evaluations and/or counselling include:

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  • Family history of chromosomal abnormalities, monogenic disease, congenital abnormalities, syndromes, mental retardation, multifactorial diseases, etc.
     

  • Reproduction problems such as infertility and multiple miscarriages.
     

  • Exposure of the foetus to teratogenic factors such as medications, harmful chemicals, ionising radiation, infections, etc.
     

  • Ultrasound findings in the foetus during pregnancy such as congenital abnormalities, diminished growth, etc.

Image by Greg Rosenke
Genetics Department

About our Genetics Services

The genetics department of our hospitals include the following sectors:

Non-Invasive Prenatal Testing, Prenatal Screening and Prenatal Diagnostic Tests, Genetic Investigation of Infertility and Miscarriage, Genetic Diseases/Syndrome Testing, Genetic Testing for Hereditary Cancer and Solid Tumours

Non-Invasive Prenatal Testing

Non-Invasive Prenatal Testing (NIPT) is a new, innovative approach that estimates the risk of the presence of Down syndrome, Edwards’ syndrome, and Patau’s syndrome with greater reliability than previously used conventional methods. NIPT is done through blood tests that are offered to women who are carrying children who have been identified as potentially at risk of having genetic disorders.

This test can be performed on single or twin pregnancies over 9 weeks without harming the mother or child. Screening is usually unsuccessful when the testing is done on pregnancies of less than 9 weeks, as well as women who have had a bone marrow transplant.

Is the test conclusive?

Although the tests are not 100% conclusive, they are highly accurate. The accuracy for detecting sex chromosome anomalies varies by condition. In singleton pregnancies, the test identifies : more than 99% of foetuses with Trisomy 21, 98% of foetuses with Trisomy 18 and Trisomy 13, and 95% of foetuses with Turner Syndrome.

How is NIPT different from other prenatal tests?

NIPT has several advantages to other prenatal testing including:

  • Much higher accuracy compared to other tests

  • Provides a greater peace of mind

  • Totally non-invasive, posing minimal risk to mother and baby

  • Can be carried out as early as 10 weeks

  • Can test much more than Down Syndrome

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