I couldn鈥檛 help trembling slightly as I collected DNA from my mouth to send away for testing. My husband and I want to know our chances of having children with fragile X syndrome, which is passed on by the聽mother, so I was doing the test to see if I am a carrier.
The test also screens for cystic fibrosis and spinal muscular atrophy聽鈥� if I am a carrier for either of those, my husband will get tested too. We don鈥檛 have any of these conditions ourselves, and we don鈥檛 know of any affected relatives, but recent research shows this is true of of carriers. Most people only learn they are carrying gene variants for a genetic condition when they couple up with another carrier and have a child with the condition.
This is why obstetricians in Australia and the want all couples 鈥� not just those with family histories 鈥� to be offered pre-pregnancy screening to check their risk of passing on some specific genetic disorders to their children.
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Late-night googling
Before I took the test, the Victorian Clinical Genetic Services in Melbourne organised a phone call for me with a genetic counsellor, who explained the options if we test positive. These include opting for IVF and screening for unaffected embryos, or getting pregnant naturally and using a first-trimester DNA test to decide whether to proceed.
Just thinking about the options was difficult, and neither of us was sure what we would choose. The test itself, however, was simple 鈥� I just rubbed a cotton swab inside my cheeks, put it in a tube of liquid, screwed on the cap, tipped it upside down a few times and sent it back in a return envelope.
I was more anxious than I thought I would be while I waited for my results. I found myself late-night googling what it is like to have a child with these conditions.
Fortunately, I got the all-clear. Any聽children we have could be at risk聽of other disorders, but it is a relief to know we can rule out three common ones.
Read more: We can now read the whole genome of a fetus in the womb
This article appeared in print under the headline 鈥淭esting myself鈥�
