It was the biggest needle Mary (not her real name), had ever seen.Mary was pregnant and 35 years old. Doctors recommend genetic testing of the foetus for pregnant mothers 35 years old or older as the risk of the baby developing chromosomal abnormalities such as Down Syndrome increases with maternal age. Mary and her husband particularly wanted to go through with the testing because Mary’s husband was adopted and they had no medical history for him.In amniocentesis a long needle is inserted through the mother’s abdomen into the uterus to collect a sample of amniotic fluid surrounding the foetus. The fluid is put through a battery of tests to determine if the baby is developing normally.“The thinking was that, if it showed something was ‘really wrong’ we would terminate,” said Mary. “We didn’t really have a preconceived definition of ‘really wrong’. We just figured that it would be clear if it was. We didn’t really start widely broadcasting the pregnancy until after I got the results. The test was done in conjunction with the 16 week ultrasound, where they do all the measurements that are also a strong indicator of the health of the pregnancy.“It was the biggest needle I have ever seen. I’m not really bothered by needles. I get acupuncture regularly, but I couldn’t quite bring myself to look at it as it was going into my belly. It didn’t really hurt though — it felt more like someone pressing really hard with a pointed finger. It was quick. They ran the standard tests and, thankfully, they all came back clear.”The down side of amniocentesis is that there is a very slight risk of miscarriage from the procedure and a very slight risk of injury to the foetus, not to mention the very long needle used in the procedure. In the last couple of months, King Edward VII Memorial Hospital has begun offering women another, less invasive, genetic testing option called the Harmony Test.This is a simple blood test where the baby’s DNA carried in the mother’s blood stream is checked for chromosomal abnormalities including Down, Trisomy 21, 13 and 18. Trisomy disorders can result in stillbirth, severe disfigurement, brain damage, heart defects and other problems. Eighty percent of babies with Trisomy 13 die within the first year.“The Harmony Test is still new,” said Dr Dale Wilmot who is Chief of Obstetrics at King Edward VII Memorial Hospital. “It is not available in Bermuda, but we can run the test by sending the bloods overseas and then getting the results.”“The results of the Harmony test are almost as accurate as amniocentesis which is 99.9 percent accurate,” said Dr Wilmot. “Many women in Bermuda are taking advantage of it. With the direction we are heading in, it is more than likely that all pregnant women will be getting the Harmony testing routinely in the future.”One of the advantages of the Harmony Test is that it can be done from ten weeks into pregnancy onward whereas amniocenteses cannot be done until the pregnancy is between 15 and 20 weeks along. If the test shows an abnormality and the parents chose to abort it would be theoretically easier to do so, on an emotional level, earlier in the pregnancy than later.One of the limitations of the Harmony Test is that, unlike amniocenteses, it does not test for neural tube defects, some of the most common birth defects. If your obstetrician does run the Harmony test then a pregnant woman might still want to be tested for a neural tube defect in the second trimester. This is usually done with the Maternal Serum Alpha-fetoprotein test.However, the test can now be done on twins and babies produced through in vitro fertilisation, provided the pregnancy is from the mother’s egg.Genetic testing is somewhat controversial with some pro-life advocates arguing that some doctors are pressuring parents to abort foetuses diagnosed with genetic abnormalities. Those in favour of genetic testing argue that it gives parents an alternative to going through the emotional agony of giving birth to a stillborn or very sick baby, and also helps them avoid the resulting financial hardship of caring for a severely mentally or physically disabled child. Ninety percent of expecting parents faced with a diagnosis of Down Syndrome choose abortion.“All these tests are a woman’s choice,” said Dr Wilmot. “Before we do anything we counsel all our pregnant women. If they are not going to use the information to make a management plan then they have the option of not testing at all. A couple might tell me whatever the test result shows we are not aborting because we do not believe in that. In that case, there is no point because it won’t effect the outcome at all. People choose what suits them.”One extra benefit of the Harmony Test is that it also tests the baby’s gender with 99 percent accuracy. “This can be seen as a good thing or it can be seen as a bad thing,” said Dr Wilmot. “I do worry about people choosing to terminate a pregnancy because of the gender of the baby, but thankfully, I have not encountered that in Bermuda.”The Harmony Test is covered by insurance.