Pre Pregnancy Planning

The second is the use of pre-conceptual folate or folic acid at a dose of 500 mcg daily. This dose is present in all reputable pregnancy vitamins. Folic acid is given before pregnancy and in the first twelve weeks of pregnancy to reduce the risk of Spina Bifida or Open Neural Tube defect.

The third discussion before you get pregnant is what tests would you and your partner like to do to see which autosomal recessive genes you carry. The VCGS (Victorian Clinical Genetic Service) has been running a service looking at Cystic Fibrosis, Spinal Muscular Atrophy and Fragile X Syndrome which are the three most common recessive genes in Australia. However, over the recent year extended autosomal recessive genes are available from three companies. These look at between 280 and 300 recessive genes. If a couple performs this extended screen there is a 70% chance you will be told you carry a recessive gene and an approximate 6% chance you carry a gene that crosses over with your partner. This requires further discussion with your practitioner.

Once you are pregnant the discussion about what chromosomal screening will be available to you (i.e testing for Down Syndrome) can happen. The most commonly used test in Australia is a non-invasive prenatal test (NIPS) done between 10 and 11 weeks where a blood test on the mother finds fetal DNA and will tell you with a 99% certainty whether your baby has Down Syndrome or not (along with a few other conditions). This test also will inform you what sex your baby is (you can choose to be informed or not). The other option for Down Syndrome screening is a blood test at 10 weeks looking at two hormones, an ultrasound of your babies’ neck at 12 weeks called the nuchal translucency scan which combined will give you a risk assessment of Down Syndrome. In 2019 the majority of patient’s would be doing a non-invasive prenatal test as this is more accurate.

Many patients’ in pregnancy ask me about probiotics and omega 3 during pregnancy. The evidence for these is poor and the only reason I tell patient’s that I am happy for them to take these products is because they are completely safe. There is some evidence to suggest but not conclusive that probiotics may reduce the risk of carrying Group B Strep in late pregnancy and Omega 3 may reduce the risk of premature births.