22 July 2026
When his young nephew, Otis, was born with a rare genetic condition, congenital adrenal hyperplasia (CAH), Darcy and his fiancée Adriana witnessed firsthand the impact a genetic condition can have on an entire family.
CAH is an incurable genetic condition affecting the adrenal glands, which make hormones that control the body’s stress response, sexual development, metabolism, and blood pressure, among other functions. Current treatment involves lifelong steroid hormone replacement therapy, which can have significant side effects.
The diagnosis prompted Darcy and Adriana to consider genetic testing.
The couple's path to IVF had begun several years earlier, after Adriana was diagnosed with endometriosis.
"We were told then by doctors that we might have trouble conceiving, so we were really open to IVF," Darcy said.
Together with Adriana's endometriosis diagnosis and Darcy’s family history of genetic conditions, the couple decided to undergo genetic carrier screening before starting their family.
The testing revealed that Darcy and Adriana were both carriers for certain genetic conditions.
"It was really important to go down the path of genetic testing to know that we had options out there," Darcy said.
Genetic carrier screening is a type of genetic test that can identify whether an individual is at increased risk of having a child with certain inherited genetic conditions.
Monash IVF Fertility Specialist Dr Luke Larmour, who treated the couple, said that anyone planning for pregnancy should consider genetic testing, regardless of their family history.
"Genetic testing is important for everyone to consider as they're going forward with family planning," Dr Larmour said. "People may decide not to do it, but I think everyone should consider it."
Monash IVF's reproductive genetics program offers a range of genetic testing options, including genetic carrier screening and embryo testing.
Dr Larmour said Monash IVF's in-house team of genetic counsellors and clinicians provide invaluable support to patients in what can be a complex decision.
Adriana encourages other couples to feel empowered by their genetic testing results.
"I think it's a positive thing to know what you carry, and there's so many things you can do about it as well,” Adriana said.
Darcy and Adriana welcomed their baby girl Bruna in June this year.
To learn more about genetic testing options click here.
Wherever you are on your journey, one of our supportive nurse enquiry team members can help you understand your options and take the next step. These conversations are free and informative.