Patient's question:
Main symptoms: White hair, vision loss, photophobiaOnset time: At birth
Laboratory test results: Albinism
Doctor's answer:
Albinism is a genetic disorder caused by autosomal recessive inheritance. The future health of your child will depend on the genes of your partner. However, regardless of your partner's genes, your child will definitely be at least a carrier of the albinism gene. But don't worry, unless your child's future partner carries the albinism gene, the chance of developing the condition is very small.It is recommended that you go to a regular hospital to undergo the following procedures:
(1) Amniotic villus sampling for direct or cultured chromosome testing, preferably during the early pregnancy period (6-12 weeks).
(2) Amniocentesis to collect amniotic fluid for chromosome testing, preferably during the 4-5th month of pregnancy.
Wishing you all the best in your life and work.