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Genetic testing in early pregnancy

pregnant lady

For many years parents have been able to have tests performed in early pregnancy to help detect high risk pregnancies for chromosomal and genetic issues such as Down’s Syndrome. This typically consists of a blood test and an ultrasound scan being performed at the 12 week stage.

This method of testing isn’t always precise, only giving an indication if a pregnancy appears higher risk than usual. To give a completely accurate result, tests such as Chorionic Villus Sampling or Amniocentesis can be used, but these carry a risk of miscarriage as they involve obtaining the baby’s own DNA by passing a needle into the mother’s abdomen.

The good news is a new type of test, Non-Invasive Prenatal Testing (NIPT) is now available, right here on site.

This involves taking a small blood sample from the mother’s arm from as early as 10 weeks pregnant. In the initial stages of pregnancy a small amount of the baby’s DNA crosses the placenta and can be analysed from the mother’s blood. In rare cases that not enough foetal DNA will be found, the test is then repeated. If still not enough DNA is found, the laboratory will refund the cost of the test.

NIPT can screen for the most common chromosomal abnormalities such as Down syndrome, Edwards Syndrome and Patau Syndrome. Sometimes, for an additional fee, Di George Syndrome can also be screened for.

NIPT is very accurate. The chances of the above abnormalities being missed are extremely low; much lower than conventional early pregnancy testing. Should NIPT indicate a positive result that the foetus appears to be affected by a chromosomal abnormality, confirmatory testing with amniocentesis or chorionic villus sampling would still be recommended before contemplating treatment such as medical termination of pregnancy.

NIPT can even be used in the situations of twin pregnancies or IVF pregnancies.

The cost of NIPT does vary from lab to lab, but is usually around $500. It can be requested by your GP after an appropriate consultation. It is of course in no way compulsory, and we recommend careful thought and consideration is given to how you might manage a non-normal result, should that occur.

If you are pregnant, or thinking about starting a family, the friendly and professional doctors at Azure Medical would be delighted to discuss NIPT and other genetic testing options in early pregnancy that are available to you, in a relaxed and informative setting.

Richard Newton

Dr Richard Newton grew up in Warwickshire, England and went to University in Southampton, qualifying in medicine in 1991. Richard’s medical career has taken him around the world in a wide range of roles, from a ship’s Medical Officer on a frigate during the Balkans War, to rural General Practice on King Island, Tasmania. Richard has completed further Professional Development in Laser and Cosmetic Medicine, Skin Cancer Management, Sports Medicine and Internal Medicine.

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