If a pregnancy is known to be at an increased risk of having Niemann-Pick disease type C (NPC), prenatal testing can be done. This is usually done when there is a family history of the condition and genetic testing has already identified the specific changes in the NPC1 or NPC2 gene in the family. Prenatal testing can be done on a placental sample (from a procedure called a chorionic villus sampling) or a sample of the amniotic fluid (from a procedure called an amniocentesis). Preimplantation genetic diagnosis (PGD) in which embryos can be genetically tested is also available.
To find a genetic counselor near you who can discuss prenatal and preconceptual testing, visit the National Society of Genetic Counselors Find a Genetic Counselor website.
Other Questions About Niemann-pick type c
- Who else in my family should I test for Niemann-Pick disease type C?
- Which Niemann-Pick disease type C is more common, type C1 or type C2?
- Where do I find other people with Niemann-Pick disease type C?
- When should a doctor suspect that a person has Niemann-Pick disease type C?
- What is the usual abbreviation for Niemann-Pick disease type C?
