New molecular diagnostic methods could reduce risk of miscarriage in prenatal testing for genetic diseases

摘要

EARLY DIAGNOSIS AND TREATMENT ARE CRUCIAL TO IMPROVING PATIENT PROGNOSIS FOR 22Q11 DELETION SYNDROME AND WILSON'S DISEASE, TWO POTENTIALLY LIFE-THREATENING GENETIC CONDITIONS. Breaking research in the "Molecular Diagnostics" issue of Clinical Chemistry, the journal of AACC, shows for the first time that a more precise technology for quantifying DNA could enable all newborns to be tested for 22q11 deletion syndrome; and that a new method known as cSMART can diagnose a fetus with Wilson's disease without the risk of miscarriage that comes with traditional prenatal tests. 22q11 deletion syndrome is considered one of the most common chromosomal deletions associated with birth defects and leads to a wide range of health problems, from heart defects to behavioral disorders.