Overview
Wilson’s disease is a rare inherited disorder of copper metabolism caused by mutations in the ATP7B gene located on chromosome 13. It follows an autosomal recessive pattern and leads to impaired biliary excretion of copper, resulting in progressive accumulation of copper in the liver, brain, cornea, and other organs.
Prenatal checkup in Wilson’s disease is considered in high-risk pregnancies where there is a known family history or previously affected child. Prenatal diagnosis allows early identification of affected fetuses and supports informed reproductive decision-making.
Symptoms
Prenatal checkup itself does not involve fetal symptoms, but it aims to prevent the birth of an affected child who may later develop serious manifestations. Postnatally, Wilson’s disease commonly presents in childhood or adolescence with hepatic symptoms such as jaundice, hepatomegaly, hepatitis, or cirrhosis. Neurological features include tremors, rigidity, dystonia, poor coordination, slurred speech, and swallowing difficulty. Psychiatric symptoms such as mood changes, depression, personality changes, and cognitive decline may also occur. Ocular involvement typically includes Kayser–Fleischer rings and, rarely, sunflower cataracts.
Causes
Wilson’s disease occurs due to defective copper transport caused by ATP7B gene mutations. This defect prevents normal incorporation of copper into ceruloplasmin and impairs copper excretion into bile. As a result, free copper accumulates in tissues and causes cellular damage. Prenatal diagnosis focuses on detecting ATP7B mutations in fetal cells obtained through chorionic villus sampling or amniocentesis.
Measurement of copper-related markers in amniotic fluid may support diagnosis, but genetic analysis remains the definitive approach.
Risk Factors
Major risk factors include a positive family history of Wilson’s disease, consanguinity, and parents who are known carriers of ATP7B mutations. Pregnancies in families with a previously affected child are considered high risk. The invasive nature of prenatal diagnostic procedures carries a small risk of miscarriage. Limited mutation detection, high cost, emotional stress, and ethical concerns regarding pregnancy termination are additional risk considerations.
Prevention
Wilson’s disease cannot be prevented genetically, but prenatal checkup helps prevent the birth of an affected child in high-risk families. Genetic counseling before and during pregnancy is essential to explain inheritance patterns, risks, and available diagnostic options. Early prenatal diagnosis allows timely decision-making within legal and ethical frameworks. Screening of family members, carrier detection, and planned pregnancies with prior counseling significantly reduce the long-term medical, emotional, and financial burden associated with Wilson’s disease.
