The Harmony Test

Non-invasive prenatal testing (NIPT) analyses cell-free DNA circulating in the pregnant mother’s blood. It is a new option in prenatal screening for Down syndrome (trisomy 21) and other common fetal chromosomal conditions (trisomies 18 and 13).

The test involves taking a sample of maternal blood and is safe and non invasive with a high detection rate for the following 4 chromosomal abnormalities:

  • Down’s Syndrome – 99%
  • Edwards Syndrome – 97%
  • Patau’s Syndrome – 94%
  • Turners Syndrome – 96%

NIPT can be undertaken from 10 weeks of pregnancy alongside a dating scan to accurately confirm gestation and the result will be available after 14 days

It can also be used at any gestation throughout the pregnancy for instance if you have missed your 12/40 nuchal scan or have had a positive result and would like more information before deciding to go ahead with an invasive procedure.

NIPT does not replace invasive tests such an amniocentesis of chorionic villus sampling (CVS). If the results of NIPT are positive an invasive test is required to confirm the diagnosis. NIPT will not detect any structural abnormalities with the baby and ultrasound scans are therefore recommended at 12/40 & 20/40.

The Harmony test can now be ordered for all in vitro fertilization (IVF) singleton pregnancies, including those with egg donors. Samples from pregnant women with twins naturally conceived, or those conceived using the patient’s own egg, are also accepted.

There needs to be enough fetal DNA in the maternal blood to be able to provide a result. If there is insufficient fetal DNA in the sample, another blood sample from the mother may be required and this occurs in 3 to 5 % of cases. This will be processed in the laboratory at no extra charge.

Non-InvasivePrenatalTesting.pdf

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