For many families, the decision to have another child is straightforward. For Jess and John Buchelin, parents of two, it came with an unexpected and life changing discovery. During genetic carrier screening ahead of their third pregnancy, the couple learned they both carried the cystic fibrosis gene mutation, giving any future child a one in four chance of being born with the condition.
Rather than leave that to chance, Jess and John chose to pursue IVF with preimplantation genetic testing, a process that allows embryos to be screened for specific genetic conditions before transfer. Of five embryos created, only one, their son Finn, was found to be free of the cystic fibrosis mutation. Finn was transferred and is now a healthy addition to their family.
Genea fertility specialist Associate Professor Lionel Reyftmann highlighted the significance of Medicare covering the cost of genetic carrier screening, noting that without this support, many couples at elevated risk would simply not know. Approximately 1 in 240 Australian couples face an increased risk of having a child with a serious genetic condition, and for many, awareness only comes when they proactively seek testing.
For couples who discover they are both carriers, there are several pathways available. These include continuing with a natural pregnancy and traditional diagnostic testing, pursuing IVF with preimplantation genetic testing to screen embryos prior to transfer, or exploring donor options. The right path is deeply personal and depends on individual circumstances, values, and medical history.
Genetic carrier screening is now recommended for all couples planning a pregnancy in Australia, regardless of family history. Early testing means more informed choices and more time to consider all available options.
A/Prof Lionel Reyftmann
Assoc Prof. Lionel Reyftmann has an integrated vision of fertility practice. The treatment options he offers patients are gradual steps beginning with simple medical and lifestyle management, up to advanced laparoscopic surgery or assisted reproductive technologies (IVF, ICSI) depending on the individual case and the patient’s wishes. Lionel also provides hysteroscopic surgery including the management of the Asherman syndrome as well as fertiloscopy surgery.
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