Sydney Couple’s Genetic Screening Reveals Daughter Has OCA1

Georgina Trousas, 40, and Adam Lagus, 39, both of Sydney, underwent expanded genetic carrier screening for approximately 800 conditions while expecting their first child. Newsweek reported that the couple was told the chance both carried the same condition was around 2 percent.

One week after their baby's gender reveal, Trousas received a call from her obstetrician stating both parents carried genes linked to oculocutaneous albinism type 1.

OCA1 affects melanin production in the skin, hair and eyes. Their daughter had a one-in-four chance of inheriting both variants. The couple underwent amniocentesis, which carries a small risk of miscarriage, to confirm the diagnosis.

Results showed the child had inherited both genetic variants. Trousas told Newsweek the initial news was devastating but her perspective changed after connecting with the National Organization for Albinism and Hypopigmentation, the Albinism Fellowship of Australia and Vision Australia.

She learned there are seven recognized forms of albinism and that children with OCA1 often require lifelong eye care and sun protection.

Around 80 percent of children born with genetic conditions come from families with no known history, Trousas noted. The couple installed UV-protective shades and arranged specialist medical care. Trousas said she wishes she had known about expanded carrier screening before becoming pregnant.

As of the Newsweek report, Trousas was days from giving birth. She stated the diagnosis no longer defines how she sees her child and that she and Lagus are excited to meet their baby.