Pregnant women undergoing unnecessary invasive procedures

UNDER EMBARGO FOR 8AM 29 JANUARY 2022: The latest research reveals that approximately 5% of pregnant women are having unnecessary invasive Chorionic Villus Sampling (CVS) or Amniocentesis procedures, increasing their risk of pregnancy loss.

Submitted to the Australian Journal of Obstetricians and Gynecologists, the study involved 1000 pregnant women and is the largest clinical trial of its type in Australia. All women were offered GeneSyte, Genea’s Non-Invasive Prenatal Screening (NIPS) and results were compared to the traditional method of combined first trimester screening.

Dr Cheryl Phua, Genea Fertility Specialist says, “traditionally, to assess the chromosomal health of a fetus in the early stages of a pregnancy women had a 12-week ultrasound and a blood test to review the morphology of the baby and the hormone profile of the pregnancy. However, NIPS enables scientists to analyze the actual chromosomes of the fetus, providing more accuracy.”

When a woman is pregnant, some of the baby’s DNA crosses the placenta into the mother’s bloodstream. GeneSyte involves taking a blood sample from the mother at 10 weeks and screening for the baby’s DNA. Scientists can then look at the baby’s DNA for changes in chromosome numbers, checking for conditions which are caused by extra or missing chromosomes.

The clinical trial uncovered that of the 1000 patients, 42 women would have been incorrectly classified as high risk and referred for CVS or Amniocentesis. GeneSyte revealed this was unnecessary and all 40 babies were chromosomally normal and avoided having the more risky CVS or Amniocentesis. Only 5 women actually needed to proceed to invasive diagnostic testing.

CVS and Amniocentesis involves taking a sample from the placenta or amniotic fluid using a needle inserted through the abdomen, and the sample is then examined in a laboratory. The risk of miscarriage following CVS is one in 100. Amniocentesis involves taking a sample of the fluid surrounding the baby, risk of miscarriage is <0.5 in 100.

Genea Scientific Director, Steven McArthur says, “this is one of the most definitive studies conducted into prenatal genetic testing and has significant implications on the long-term management and care of pregnancies.”

Emily Hurst underwent IVF at Genea Fertility in 2021 and after two cycles fell pregnant with Baby Hudson. The couple chose to have NIPS at 10 weeks and said they were relieved they didn’t require more invasive testing, “early pregnancy is a very anxious time for most women, hopeful they will maintain a healthy pregnancy, women just want reassuring information as early as possible and personally I was grateful for the NIPS test to reduce risking an invasive procedure later in my pregnancy.”

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