children s health issues
Niemann Pick Disease
Diagnosis of Niemann Pick Disease
Prenatal screening tests Newborn screening tests and/or biopsy of the liver Blood and sometimes DNA tests Before birth, Niemann-Pick disease types A and B can be diagnosed in the fetus by using the prenatal screening tests Chorionic Villus Sampling or After birth, the diagnosis of Niemann-Pick disease types A and B may be diagnosed in some states by routine Newborn Screening Tests . Newborn screening tests cannot be done for type C. Doctors also measure levels of sphingomyelinase in white blood cells for types A and B. Genetic Screening Before Pregnancy , which is used to determine whether a couple is at increased risk of having a baby with a hereditary genetic disorder, is also available for all three types. Tests of DNA (the building blocks of genes) may be done to identify carriers. Carrier Screening are people who have an abnormal gene for a disorder but who do not have symptoms or visible evidence of the disorder. 