Patient's question:
The first child has PKU. Currently, at 17 weeks of pregnancy, I had an amniocentesis at Shanghai Xinhua Hospital. The test results are as follows: The fetus carries a paternally derived mutation but does not carry a maternally derived mutation, indicating a heterozygous fetus. It is recommended to conduct newborn screening after birth to verify the result. Due to the lack of a positive proband sample, the results are for reference only. I just want to ask the doctor if this result is good or not?Doctor's answer:
Disease Analysis: If the first child has PKU, the second child may also be at risk. Advice: Based on the clinical description, this could be a heterozygote. PKU is an autosomal recessive disorder, meaning that an individual must be a homozygous recessive carrier to have PKU. It is possible for the child to be normal.