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Prenatal Diagnosis and Testing
Prenatal Diagnosis or Carrier Detection Testing
Without a family history of MPS, we do not have the indication to detect the missing enzyme associated with MPS during pregnancy or at childbirth. With a family history and appropriate testing for an individual with MPS, prenatal testing options are available for a family in a future pregnancy. For most MPS conditions, amniocentesis can be performed between 14 and 17 weeks gestation to determine if the unborn child is affected. Alternatively, chorionic villus sampling (CVS), a procedure in which a small piece of placental tissue (chorionic villi) are taken from the uterus in the early stages of pregnancy to check for the presence of genetic defects in the fetus, can be performed between eight and ten weeks of pregnancy. Tests also are available to determine whether individuals are carriers of an MPS disorder.
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